Variant report

Variant	rs12141613
Chromosome Location	chr1:170044163-170044164
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr1:170043352-170044382	HEK293	kidney:	n/a	n/a
2	SMC3	chr1:170043572-170044545	GM12878	blood:	n/a	n/a
3	RAD21	chr1:170043621-170044222	Hela-S3	cervix:	n/a	chr1:170043991-170044010 chr1:170043993-170044005
4	NRF1	chr1:170043301-170044177	SK-N-SH	brain:	n/a	chr1:170043852-170043863 chr1:170043854-170043863 chr1:170043882-170043896 chr1:170043881-170043892
5	CTCF	chr1:170043447-170044359	K562	blood:	n/a	chr1:170043995-170044008 chr1:170043993-170044011
6	TBL1XR1	chr1:170043418-170044306	K562	blood:	n/a	n/a
7	MYC	chr1:170043396-170044174	K562	blood:	n/a	n/a
8	SIN3AK20	chr1:170043439-170044198	PANC-1	pancreas:	n/a	n/a
9	TBL1XR1	chr1:170043535-170044541	K562	blood:	n/a	n/a
10	CCNT2	chr1:170043424-170044211	K562	blood:	n/a	n/a
11	MXI1	chr1:170043002-170044283	IMR90	lung:	n/a	n/a
12	CREB1	chr1:170043451-170044223	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr1:170043038-170044623	GM12878	blood:	n/a	n/a
14	NRF1	chr1:170043456-170044286	GM12878	blood:	n/a	chr1:170043852-170043863 chr1:170043854-170043863 chr1:170043882-170043896 chr1:170043881-170043892
15	MYBL2	chr1:170043522-170044243	HepG2	liver:	n/a	chr1:170044056-170044069
16	ARID3A	chr1:170043890-170044163	K562	blood:	n/a	n/a
17	MAX	chr1:170043405-170044188	MCF-7	breast:	n/a	n/a
18	CTCF	chr1:170043556-170044278	K562	blood:	n/a	chr1:170043995-170044008 chr1:170043993-170044011
19	POLR2A	chr1:170042533-170044483	GM12891	blood:	n/a	n/a
20	RAD21	chr1:170043687-170044295	A549	lung:	n/a	chr1:170043991-170044010 chr1:170043993-170044005
21	RFX5	chr1:170043500-170044265	Hela-S3	cervix:	n/a	n/a
22	RAD21	chr1:170043579-170044197	IMR90	lung:	n/a	chr1:170043991-170044010 chr1:170043993-170044005
23	MAX	chr1:170043370-170044202	SK-N-SH	brain:	n/a	n/a
24	STAT3	chr1:170043603-170044481	GM12878	blood:	n/a	n/a
25	CUX1	chr1:170043835-170044977	GM12878	blood:	n/a	chr1:170044699-170044713 chr1:170044698-170044707
26	CTCF	chr1:170043462-170044396	GM12878	blood:	n/a	chr1:170043995-170044008 chr1:170043993-170044011
27	CTCF	chr1:170044020-170044170	A549	lung:	n/a	n/a
28	CTCF	chr1:170044020-170044170	WI-38	lung:	n/a	n/a
29	CTCF	chr1:170043433-170044542	A549	lung:	n/a	chr1:170043995-170044008 chr1:170043993-170044011
30	POLR2A	chr1:170043400-170044205	GM15510	blood:	n/a	n/a
31	MAZ	chr1:170042977-170044235	IMR90	lung:	n/a	n/a
32	CREB1	chr1:170043414-170044243	HepG2	liver:	n/a	n/a
33	TCF7L2	chr1:170043897-170044288	MCF-7	breast:	n/a	chr1:170044221-170044230 chr1:170044222-170044232 chr1:170044218-170044234 chr1:170044218-170044234 chr1:170044222-170044231 chr1:170044219-170044233
34	MAX	chr1:170043226-170044380	GM12878	blood:	n/a	n/a
35	EP300	chr1:170043392-170044504	GM12878	blood:	n/a	n/a
36	HCFC1	chr1:170042827-170044890	Hela-S3	cervix:	n/a	n/a
37	POU2F2	chr1:170043290-170044169	GM12878	blood:	n/a	n/a
38	IRF1	chr1:170043581-170044275	K562	blood:	n/a	chr1:170043989-170044003
39	ATF1	chr1:170043550-170044175	K562	blood:	n/a	n/a
40	CTCF	chr1:170043274-170044455	SK-N-SH	brain:	n/a	chr1:170043995-170044008 chr1:170043993-170044011
41	MAZ	chr1:170043134-170044238	K562	blood:	n/a	n/a
42	RCOR1	chr1:170043227-170044263	GM12878	blood:	n/a	n/a
43	E2F4	chr1:170043606-170044259	MCF10A-Er-Src	breast:	n/a	chr1:170043853-170043862
44	STAT3	chr1:170044059-170044434	MCF10A-Er-Src	breast:	n/a	n/a
45	CHD2	chr1:170043568-170044423	K562	blood:	n/a	n/a
46	ARID3A	chr1:170043720-170044272	HepG2	liver:	n/a	n/a
47	GATA3	chr1:170043657-170044182	T-47D	breast:	n/a	n/a
48	MAX	chr1:170043428-170044256	NB4	blood:	n/a	n/a
49	RAD21	chr1:170043811-170044219	SK-N-SH_RA	brain:	n/a	chr1:170043991-170044010 chr1:170043993-170044005
50	MYC	chr1:170043555-170044174	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169861326..169864449-chr1:170043806..170046469,4	K562	blood:
2	chr1:170037649..170040302-chr1:170043918..170046865,2	K562	blood:

Variant related genes	Relation type
KIFAP3	TF binding region
ENSG00000075945	Chromatin interaction
ENSG00000000457	Chromatin interaction

Extended variants
information (count: 251 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:249)

rs_ID	r²[population]
rs10494479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800489	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12116524	0.85[AMR][1000 genomes]
rs12116601	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12117794	0.90[AMR][1000 genomes]
rs12118080	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118739	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119368	0.85[AMR][1000 genomes]
rs12119447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119473	0.81[AMR][1000 genomes]
rs12119665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121045	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12121371	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121614	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12121797	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122419	0.85[AMR][1000 genomes]
rs12122606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123483	0.85[AMR][1000 genomes]
rs12123686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123806	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12123835	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12123865	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124032	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12124384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124561	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12124750	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12124907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125595	1.00[CEU][hapmap];0.89[TSI][hapmap]
rs12125679	1.00[CEU][hapmap];0.89[TSI][hapmap]
rs12127120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127211	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12127500	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12127911	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128126	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128308	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12129164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129951	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12130150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131192	1.00[CEU][hapmap];0.86[GIH][hapmap];0.89[TSI][hapmap]
rs12131206	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131357	1.00[CEU][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs12131603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132173	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133108	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12133115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133369	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12134837	0.85[AMR][1000 genomes]
rs12134886	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12135355	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135559	0.85[AMR][1000 genomes]
rs12135642	0.85[AMR][1000 genomes]
rs12136425	0.85[AMR][1000 genomes]
rs12136554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138083	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139141	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140134	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12140984	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12141317	0.85[AMR][1000 genomes]
rs12141377	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142093	0.85[AMR][1000 genomes]
rs12142355	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12142459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143057	0.85[AMR][1000 genomes]
rs12143204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143260	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12143739	0.82[AMR][1000 genomes]
rs12143781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144122	0.81[EUR][1000 genomes]
rs12144207	0.85[AMR][1000 genomes]
rs12144599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144624	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12144683	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12145295	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145458	0.85[AMR][1000 genomes]
rs12145562	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146043	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1321657	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496	0.85[AMR][1000 genomes]
rs16828222	1.00[CEU][hapmap];0.89[TSI][hapmap]
rs16862751	0.91[CEU][hapmap]
rs16862919	1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16862956	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16862968	1.00[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17345663	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17349740	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17543370	0.85[AMR][1000 genomes]
rs17543611	0.85[AMR][1000 genomes]
rs17543730	0.85[AMR][1000 genomes]
rs17544586	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17544823	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17602701	0.85[AMR][1000 genomes]
rs17603570	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17603666	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2057249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093050	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2145046	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2183418	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474697	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2474701	0.91[AMR][1000 genomes]
rs2474704	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2474705	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2474706	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2750018	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2750019	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806384	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806385	0.89[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806387	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806389	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806390	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806392	1.00[CEU][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs28652825	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3766152	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4385776	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4519	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs476485	0.83[EUR][1000 genomes]
rs478116	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs483103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486431	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs490469	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs490776	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs495092	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs495642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs505336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506196	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs510127	0.83[AMR][1000 genomes]
rs510681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517649	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs518928	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs520990	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521165	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522017	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs536080	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536358	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537976	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541711	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs544008	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs545284	0.83[EUR][1000 genomes]
rs545954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545963	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549537	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs553209	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs554060	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs557475	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558540	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs558782	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs559969	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560414	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs562054	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562837	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565397	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs565626	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs571806	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs575147	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs576225	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs578916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579553	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs582900	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs583604	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590181	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs591202	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs591559	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs593406	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs595984	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598763	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs601355	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs602556	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs606047	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs606409	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs606689	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606695	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612548	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs615485	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs615915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618149	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs618692	0.83[CEU][hapmap]
rs629408	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs629593	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs630179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642352	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6427231	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs644834	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646730	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647113	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs648502	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs654664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655133	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs655474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656334	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs656848	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs657254	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs659363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661516	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664598	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs664962	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs665774	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs671921	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs672843	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs673656	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs673789	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs674896	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675394	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676020	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs677630	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680269	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685155	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs686519	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs686911	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs687195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7411424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74122419	0.81[EUR][1000 genomes]
rs7549000	0.91[CEU][hapmap];1.00[EUR][1000 genomes]
rs850771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9426888	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs12141613	METTL18	cis	Adipose Subcutaneous	GTEx
rs12141613	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs12141613	METTL18	cis	Thyroid	GTEx
rs12141613	C1orf156	cis	uninvolved skin	skin_eQTL
rs12141613	C1orf112	cis	multi-tissue	Pritchard
rs12141613	METTL18	cis	Artery Aorta	GTEx
rs12141613	C1orf156	cis	parietal	SCAN
rs12141613	SFT2D2	cis	cerebellum	SCAN
rs12141613	C1orf156	cis	multi-tissue	Pritchard
rs12141613	C1orf156	cis	cerebellum	SCAN
rs12141613	C1orf112	cis	cerebellum	SCAN
rs12141613	METTL18	cis	Esophagus Mucosa	GTEx
rs12141613	C1orf156	cis	lymphoblastoid	seeQTL
rs12141613	C1orf156	cis	lesional skin	skin_eQTL
rs12141613	METTL18	cis	Nerve Tibial	GTEx
rs12141613	METTL18	cis	Heart Left Ventricle	GTEx
rs12141613	METTL18	cis	Stomach	GTEx
rs12141613	MGC9084	cis	multi-tissue	Pritchard
rs12141613	KIFAP3	cis	parietal	SCAN
rs12141613	POGK	cis	cerebellum	SCAN
rs12141613	METTL18	cis	lung	GTEx
rs12141613	METTL18	cis	Esophagus Muscularis	GTEx
rs12141613	METTL18	cis	Muscle Skeletal	GTEx
rs12141613	METTL18	cis	Artery Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170041000-170044200	Active TSS	GM12878-XiMat	blood
2	chr1:170041400-170044200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:170042000-170044200	Active TSS	HMEC	breast
4	chr1:170042000-170044200	Active TSS	K562	blood
5	chr1:170042000-170044400	Active TSS	NHLF	lung
6	chr1:170042000-170044600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:170042400-170044200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:170042400-170044200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:170042400-170044200	Active TSS	Fetal Lung	lung
10	chr1:170042400-170044200	Active TSS	NHDF-Ad	bronchial
11	chr1:170042400-170044600	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr1:170042600-170044200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:170042600-170044200	Active TSS	Brain Germinal Matrix	brain
14	chr1:170042600-170044200	Active TSS	Stomach Smooth Muscle	stomach
15	chr1:170042600-170044400	Active TSS	Aorta	Aorta
16	chr1:170042600-170044400	Active TSS	Brain Substantia Nigra	brain
17	chr1:170042600-170044400	Active TSS	Fetal Brain Male	brain
18	chr1:170042600-170044400	Active TSS	Fetal Brain Female	brain
19	chr1:170042600-170044400	Active TSS	Fetal Intestine Large	intestine
20	chr1:170042600-170044400	Active TSS	Ovary	ovary
21	chr1:170042600-170044400	Active TSS	Psoas Muscle	Psoas
22	chr1:170042600-170044400	Active TSS	Stomach Mucosa	stomach
23	chr1:170042600-170044400	Active TSS	A549	lung
24	chr1:170042600-170044600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:170042600-170044600	Active TSS	Right Ventricle	heart
26	chr1:170042800-170044200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:170042800-170044200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:170042800-170044200	Active TSS	Fetal Stomach	stomach
29	chr1:170042800-170044200	Active TSS	NH-A	brain
30	chr1:170042800-170044400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:170042800-170044400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:170042800-170044400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:170042800-170044400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:170042800-170044400	Active TSS	Brain Anterior Caudate	brain
35	chr1:170042800-170044400	Active TSS	Brain Cingulate Gyrus	brain
36	chr1:170042800-170044600	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr1:170042800-170044600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:170042800-170044600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr1:170042800-170044600	Active TSS	Right Atrium	heart
40	chr1:170043000-170044200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:170043000-170044200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:170043000-170044200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:170043000-170044200	Active TSS	Brain Hippocampus Middle	brain
44	chr1:170043000-170044200	Active TSS	Colon Smooth Muscle	Colon
45	chr1:170043000-170044200	Active TSS	Esophagus	oesophagus
46	chr1:170043000-170044200	Active TSS	Fetal Intestine Small	intestine
47	chr1:170043000-170044200	Active TSS	Pancreas	Pancrea
48	chr1:170043000-170044200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:170043000-170044400	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr1:170043000-170044400	Active TSS	H1 Cell Line	embryonic stem cell

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Variant report

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