Variant report

Variant	rs1468270
Chromosome Location	chr17:46125191-46125192
allele	C/T
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	EP300	chr17:46124915-46125422	GM12878	blood:	n/a	n/a
2	EP300	chr17:46125115-46125425	K562	blood:	n/a	n/a
3	ELF1	chr17:46124903-46126424	MCF-7	breast:	n/a	chr17:46125628-46125640 chr17:46125756-46125765 chr17:46125751-46125763 chr17:46125225-46125237
4	USF2	chr17:46124512-46125667	Hela-S3	cervix:	n/a	n/a
5	SIN3A	chr17:46124524-46126657	H1-hESC	embryonic stem cell:	n/a	chr17:46125164-46125177 chr17:46125047-46125061
6	POLR2A	chr17:46124277-46126855	GM12892	blood:	n/a	n/a
7	MYC	chr17:46124582-46126769	A549	lung:	n/a	chr17:46125917-46125927 chr17:46125705-46125715 chr17:46125209-46125219 chr17:46125627-46125637
8	MXI1	chr17:46124653-46126572	Hela-S3	cervix:	n/a	n/a
9	TAF7	chr17:46124874-46125641	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr17:46124297-46126790	A549	lung:	n/a	chr17:46125917-46125927 chr17:46125705-46125715 chr17:46125209-46125219 chr17:46125627-46125637
11	POLR2A	chr17:46124898-46126618	HCT-116	colon:	n/a	n/a
12	SPI1	chr17:46124931-46125319	GM12891	blood:	n/a	n/a
13	WRNIP1	chr17:46124610-46125591	GM12878	blood:	n/a	n/a
14	E2F6	chr17:46124520-46126346	A549	lung:	n/a	chr17:46125707-46125716 chr17:46125707-46125719 chr17:46125916-46125925
15	POLR2A	chr17:46124467-46126786	K562	blood:	n/a	n/a
16	SIN3AK20	chr17:46124501-46125758	A549	lung:	n/a	n/a
17	SP1	chr17:46124920-46126177	H1-hESC	embryonic stem cell:	n/a	chr17:46126094-46126106 chr17:46125469-46125490 chr17:46125499-46125511 chr17:46125912-46125926 chr17:46126095-46126104 chr17:46125915-46125927 chr17:46125965-46125977 chr17:46126094-46126106 chr17:46125501-46125510 chr17:46125703-46125717 chr17:46125708-46125717 chr17:46126096-46126105 chr17:46125707-46125716 chr17:46126075-46126084 chr17:46125915-46125927 chr17:46125708-46125717 chr17:46125706-46125718 chr17:46126095-46126105 chr17:46125916-46125925 chr17:46125706-46125718
18	FOXA2	chr17:46124927-46125916	A549	lung:	n/a	n/a
19	MAX	chr17:46124675-46126630	GM12878	blood:	n/a	chr17:46125917-46125927 chr17:46125705-46125715 chr17:46125209-46125219 chr17:46125627-46125637
20	MYC	chr17:46124943-46125707	K562	blood:	n/a	chr17:46125209-46125219 chr17:46125627-46125637
21	BCL11A	chr17:46124903-46125428	GM12878	blood:	n/a	n/a
22	PAX5	chr17:46124881-46125524	GM12878	blood:	n/a	n/a
23	EP300	chr17:46124874-46126598	ECC-1	luminal epithelium:	n/a	chr17:46125913-46125929 chr17:46125920-46125929 chr17:46126393-46126403 chr17:46125747-46125763 chr17:46126369-46126378 chr17:46125864-46125880
24	ELF1	chr17:46124686-46126195	A549	lung:	n/a	chr17:46125628-46125640 chr17:46125756-46125765 chr17:46125751-46125763 chr17:46125225-46125237
25	TAF1	chr17:46124745-46126490	ECC-1	luminal epithelium:	n/a	n/a
26	TAF1	chr17:46124607-46126505	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr17:46124597-46126549	H1-hESC	embryonic stem cell:	n/a	n/a
28	FOXA2	chr17:46125002-46126764	A549	lung:	n/a	n/a
29	MXI1	chr17:46124943-46126595	HepG2	liver:	n/a	n/a
30	E2F6	chr17:46124767-46126152	A549	lung:	n/a	chr17:46125707-46125716 chr17:46125707-46125719 chr17:46125916-46125925
31	TBP	chr17:46125177-46126657	HepG2	liver:	n/a	n/a
32	POLR2A	chr17:46124552-46126631	K562	blood:	n/a	n/a
33	RELA	chr17:46124707-46126736	GM15510	blood:	n/a	n/a
34	PBX3	chr17:46124939-46125200	GM12878	blood:	n/a	n/a
35	CEBPB	chr17:46124943-46125732	IMR90	lung:	n/a	chr17:46125254-46125271
36	POLR2A	chr17:46124715-46126831	GM12892	blood:	n/a	n/a
37	PAX5	chr17:46124864-46125288	GM12878	blood:	n/a	n/a
38	MAFK	chr17:46125070-46126730	Hela-S3	cervix:	n/a	chr17:46125227-46125242 chr17:46125139-46125154
39	USF1	chr17:46124878-46125715	A549	lung:	n/a	n/a
40	CBX3	chr17:46124720-46126164	K562	blood:	n/a	n/a
41	POLR2A	chr17:46124024-46126770	PFSK-1	brain:	n/a	n/a
42	YY1	chr17:46124759-46126694	GM12891	blood:	n/a	chr17:46125747-46125761 chr17:46125178-46125186 chr17:46125179-46125189 chr17:46125674-46125685 chr17:46125180-46125188 chr17:46125167-46125189 chr17:46125756-46125765 chr17:46125172-46125191 chr17:46125913-46125927 chr17:46125626-46125640 chr17:46125744-46125758 chr17:46125974-46125988 chr17:46125975-46125989 chr17:46125707-46125716 chr17:46125171-46125191
43	IRF4	chr17:46124886-46125487	GM12878	blood:	n/a	n/a
44	USF1	chr17:46124932-46125611	H1-hESC	embryonic stem cell:	n/a	n/a
45	GABPA	chr17:46124399-46126523	MCF-7	breast:	n/a	chr17:46125707-46125716
46	TFAP2C	chr17:46125018-46126617	Hela-S3	cervix:	n/a	chr17:46126244-46126259
47	RFX5	chr17:46125158-46125739	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr17:46124390-46126614	A549	lung:	n/a	chr17:46125747-46125761 chr17:46125178-46125186 chr17:46125179-46125189 chr17:46125674-46125685 chr17:46125180-46125188 chr17:46125167-46125189 chr17:46125756-46125765 chr17:46125172-46125191 chr17:46125913-46125927 chr17:46125626-46125640 chr17:46125744-46125758 chr17:46125974-46125988 chr17:46125975-46125989 chr17:46125707-46125716 chr17:46125171-46125191
49	MYC	chr17:46124399-46126499	K562	blood:	n/a	chr17:46125917-46125927 chr17:46125705-46125715 chr17:46125209-46125219 chr17:46125627-46125637
50	MAX	chr17:46124771-46126238	H1-hESC	embryonic stem cell:	n/a	chr17:46125917-46125927 chr17:46125705-46125715 chr17:46125209-46125219 chr17:46125627-46125637

No.	Distal block	Cell Line	Cell type
1	chr17:46124778..46127532-chr17:46702734..46705232,2	K562	blood:
2	chr17:46048551..46050173-chr17:46123931..46126830,2	MCF-7	breast:
3	chr16:89988704..89989524-chr17:46124968..46125829,2	Hela-S3	cervix:
4	chr17:46125014..46129511-chr17:46182877..46189561,8	K562	blood:
5	chr17:46123351..46126971-chr17:46177351..46182209,7	K562	blood:
6	chr17:45972440..45974489-chr17:46124453..46126583,3	MCF-7	breast:
7	chr17:46034205..46036701-chr17:46124057..46126410,2	MCF-7	breast:
8	chr17:45769138..45771658-chr17:46124750..46126805,2	MCF-7	breast:
9	chr17:46125154..46125907-chr22:36424332..36425178,2	Hela-S3	cervix:
10	chr13:111367301..111368124-chr17:46124980..46126198,4	Hela-S3	cervix:
11	chr12:13153055..13153922-chr17:46125104..46125726,2	Hela-S3	cervix:
12	chr17:46123851..46125972-chr17:46688272..46690385,2	MCF-7	breast:
13	chr17:46125185..46125891-chr5:145214643..145215348,2	HCT-116	colon:
14	chr17:46124583..46125553-chr20:43976507..43977120,2	Hela-S3	cervix:
15	chr17:46124892..46127654-chr17:46182877..46187326,5	K562	blood:
16	chr12:21810505..21811197-chr17:46124997..46125550,2	NB4	blood:
17	chr17:46124025..46127922-chr17:46176725..46180326,7	MCF-7	breast:
18	chr17:46124058..46125825-chr2:122286803..122289670,2	K562	blood:
19	chr17:46123925..46127532-chr17:46701622..46704234,4	K562	blood:
20	chr17:46043414..46046355-chr17:46124548..46126704,2	MCF-7	breast:
21	chr17:46048370..46050701-chr17:46124898..46126529,2	K562	blood:
22	chr17:46124943..46127247-chr17:46188061..46189641,2	K562	blood:
23	chr17:46047400..46050259-chr17:46124707..46126731,3	MCF-7	breast:
24	chr17:46114300..46116159-chr17:46124838..46126678,3	K562	blood:
25	chr17:46123538..46128867-chr17:46183649..46187295,7	MCF-7	breast:
26	chr17:46122869..46127022-chr17:46176971..46180616,11	MCF-7	breast:
27	chr17:46124694..46126922-chr17:46984422..46985932,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COPZ2-1	chr17:46124980-46125406	XLOC_012503
2	lnc-COPZ2-1	chr17:46124980-46125435	XLOC_012503
3	lnc-COPZ2-1	chr17:46122503-46125412	ENSG00000263412.1
4	lnc-COPZ2-1	chr17:46124026-46125423	NONHSAT054369
5	lnc-COPZ2-1	chr17:46124571-46125445	NONHSAT054372
6	lnc-COPZ2-1	chr17:46124987-46125435	ENSG00000263412.1

Variant related genes	Relation type
NFE2L1	TF binding region
ENSG00000111716	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000074054	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000124145	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000013583	Chromatin interaction
ENSG00000186314	Chromatin interaction
ENSG00000005243	Chromatin interaction
ENSG00000260027	Chromatin interaction
ENSG00000167183	Chromatin interaction
ENSG00000259006	Chromatin interaction
ENSG00000198933	Chromatin interaction
ENSG00000159202	Chromatin interaction
ENSG00000100320	Chromatin interaction
ENSG00000264229	Chromatin interaction
ENSG00000207947	Chromatin interaction
ENSG00000255621	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000108468	Chromatin interaction
ENSG00000265451	Chromatin interaction
ENSG00000170689	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1010228	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11079806	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11079808	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11079809	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11649919	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11651097	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11655407	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12450620	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12600980	0.82[ASN][1000 genomes]
rs12936731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12941295	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12943543	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12946143	0.90[ASN][1000 genomes]
rs12947089	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs12949879	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12950402	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12952163	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1316657	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs1452663	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1452665	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs1452666	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs1452667	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs16951519	1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs16953941	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs16954268	1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap]
rs16954324	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17620033	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs1860862	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs1860866	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1979897	1.00[CHB][hapmap]
rs2021752	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2041572	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs2051821	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2060876	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs208005	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs208008	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs208009	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs208015	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs2109982	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2109983	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs2109984	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2123341	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2229369	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2240119	0.86[JPT][hapmap]
rs2240120	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs2240121	1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs2240122	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2278868	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2285863	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2305433	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2325783	0.90[ASN][1000 genomes]
rs2325804	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs35361214	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35688835	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3744346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3744347	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3792692	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs3792694	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs3805370	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs3897986	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs4793779	0.81[CHB][hapmap]
rs4794441	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4794447	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs4794448	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4794449	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4794450	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4794451	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4794453	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4995899	0.90[ASN][1000 genomes]
rs55920502	0.90[ASN][1000 genomes]
rs58203448	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58595405	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58624511	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62064953	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6504024	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6504025	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6504031	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6504032	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6504108	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs6847	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71369829	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7209585	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7209730	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7212202	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7217496	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7218700	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7220520	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7220768	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs7221441	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7222136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7222646	0.86[MKK][hapmap]
rs7223867	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs7224014	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7224461	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs7225550	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs757353	0.86[JPT][hapmap]
rs758999	0.83[CHB][hapmap];0.93[JPT][hapmap]
rs8065670	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8065993	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8066391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8069263	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs8071199	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap]
rs8071879	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap]
rs8072282	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs8075500	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8076380	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8077860	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8078125	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8080662	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs875065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs875066	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9747001	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs978263	1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs9807087	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9890691	0.82[ASN][1000 genomes]
rs9899275	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9899461	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9910516	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs1468270	SNX11	cis	Skin Sun Exposed Lower leg	GTEx
rs1468270	SNX11	cis	cerebellum	SCAN
rs1468270	TUBG1	cis	parietal	SCAN
rs1468270	SNX11	cis	Lymphoblastoid	GTEx
rs1468270	SLC12A4	trans	cerebellum	SCAN
rs1468270	PNPO	Cis_1M	lymphoblastoid	RTeQTL
rs1468270	SNX11	cis	Whole Blood	GTEx
rs1468270	ATXN7L3	cis	cerebellum	SCAN
rs1468270	KAT2A	cis	parietal	SCAN
rs1468270	SNX11	cis	parietal	SCAN
rs1468270	DCAKD	cis	cerebellum	SCAN
rs1468270	SNX11	cis	lymphoblastoid	seeQTL
rs1468270	CBX1	cis	cerebellum	SCAN
rs1468270	RPL27	cis	cerebellum	SCAN
rs1468270	CBX1	Cis_1M	lymphoblastoid	RTeQTL
rs1468270	RUNDC1	cis	cerebellum	SCAN
rs1468270	SNX11	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46123400-46125400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr17:46123600-46127200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr17:46123800-46127000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:46123800-46127600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr17:46124000-46125200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:46124000-46125200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr17:46124000-46125200	Flanking Active TSS	HMEC	breast
8	chr17:46124000-46125200	Flanking Active TSS	NH-A	brain
9	chr17:46124000-46125400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr17:46124000-46127200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr17:46124000-46127200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:46124000-46127200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr17:46124200-46125200	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr17:46124200-46125400	Flanking Active TSS	Fetal Thymus	thymus
15	chr17:46124200-46126800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:46124200-46127200	Active TSS	GM12878-XiMat	blood
17	chr17:46124200-46127400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:46124200-46128000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr17:46124200-46128400	Active TSS	HSMMtube	muscle
20	chr17:46124400-46125400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr17:46124400-46125400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:46124400-46125400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr17:46124400-46125400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr17:46124400-46125400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr17:46124400-46126400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:46124400-46126800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr17:46124400-46127200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:46124400-46127200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:46124400-46127400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr17:46124400-46127400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr17:46124400-46127600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr17:46124400-46127600	Active TSS	Right Ventricle	heart
33	chr17:46124400-46127800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr17:46124400-46128200	Active TSS	Left Ventricle	heart
35	chr17:46124400-46132200	Active TSS	Psoas Muscle	Psoas
36	chr17:46124600-46125400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:46124600-46125400	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr17:46124600-46125400	Flanking Active TSS	Placenta	Placenta
39	chr17:46124600-46125400	Flanking Active TSS	HepG2	liver
40	chr17:46124600-46126200	Active TSS	Fetal Brain Male	brain
41	chr17:46124600-46126200	Active TSS	Fetal Brain Female	brain
42	chr17:46124600-46126200	Active TSS	Thymus	Thymus
43	chr17:46124600-46126400	Active TSS	Brain Germinal Matrix	brain
44	chr17:46124600-46126400	Active TSS	Gastric	stomach
45	chr17:46124600-46126600	Active TSS	Fetal Stomach	stomach
46	chr17:46124600-46126800	Active TSS	Esophagus	oesophagus
47	chr17:46124600-46127000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:46124600-46127000	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr17:46124600-46127000	Active TSS	Brain Cingulate Gyrus	brain
50	chr17:46124600-46127200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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