Variant report

Variant	rs1362983
Chromosome Location	chr12:50614707-50614708
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:50614072-50616889	U87	brain:	n/a	n/a
2	EP300	chr12:50614146-50615478	Hela-S3	cervix:	n/a	n/a
3	FOS	chr12:50614051-50614805	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr12:50614161-50616815	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:50614035-50614807	GM12891	blood:	n/a	n/a
6	PBX3	chr12:50614585-50615661	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:50614097-50614807	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:50614527-50616688	U87	brain:	n/a	n/a
9	TBL1XR1	chr12:50614220-50615839	K562	blood:	n/a	n/a
10	EP300	chr12:50614696-50615484	SK-N-SH_RA	brain:	n/a	n/a
11	BCLAF1	chr12:50614126-50614782	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:50614043-50614814	GM12892	blood:	n/a	n/a
13	MTA3	chr12:50614028-50614844	GM12878	blood:	n/a	n/a
14	NFATC1	chr12:50614024-50614737	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:50614120-50616612	IMR90	lung:	n/a	n/a
16	MAFK	chr12:50614663-50614780	K562	blood:	n/a	n/a
17	MYC	chr12:50614556-50614726	K562	blood:	n/a	n/a
18	POLR2A	chr12:50614135-50616858	GM12891	blood:	n/a	n/a
19	NFATC1	chr12:50614010-50614767	GM12878	blood:	n/a	n/a
20	MXI1	chr12:50614177-50614781	Hela-S3	cervix:	n/a	n/a
21	NFIC	chr12:50614164-50615527	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr12:50614086-50616748	SK-N-SH	brain:	n/a	n/a
23	TCF12	chr12:50614022-50616807	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr12:50614556-50614792	GM12891	blood:	n/a	n/a
25	POLR2A	chr12:50614047-50614795	GM12892	blood:	n/a	n/a
26	GATA3	chr12:50614632-50615964	SK-N-SH	brain:	n/a	chr12:50614982-50614991 chr12:50614844-50614865
27	MXI1	chr12:50613882-50616976	IMR90	lung:	n/a	n/a
28	POLR2A	chr12:50614072-50616895	U87	brain:	n/a	n/a
29	NFIC	chr12:50613968-50616750	GM12878	blood:	n/a	n/a
30	RUNX3	chr12:50613994-50614855	GM12878	blood:	n/a	n/a
31	RUNX3	chr12:50614101-50614794	GM12878	blood:	n/a	n/a
32	TCF12	chr12:50614201-50615853	SK-N-SH	brain:	n/a	n/a
33	CEBPB	chr12:50614163-50615668	Hela-S3	cervix:	n/a	chr12:50614886-50614898
34	EBF1	chr12:50614205-50615523	GM12878	blood:	n/a	chr12:50615155-50615166
35	POLR2A	chr12:50614155-50614886	K562	blood:	n/a	n/a
36	POLR2A	chr12:50614532-50614789	GM12891	blood:	n/a	n/a
37	TAF1	chr12:50614541-50614843	GM12878	blood:	n/a	n/a
38	MXI1	chr12:50614069-50616888	SK-N-SH	brain:	n/a	n/a
39	STAT3	chr12:50614050-50614767	MCF10A-Er-Src	breast:	n/a	n/a
40	TBP	chr12:50614186-50616676	GM12878	blood:	n/a	n/a
41	IRF4	chr12:50614071-50614804	GM12878	blood:	n/a	n/a
42	POLR2A	chr12:50614217-50616616	MCF10A-Er-Src	breast:	n/a	n/a
43	ATF2	chr12:50614018-50614760	GM12878	blood:	n/a	n/a
44	GATA3	chr12:50614679-50615951	SH-SY5Y	brain:	n/a	chr12:50614982-50614991 chr12:50614844-50614865
45	TCF7L2	chr12:50614680-50614921	PANC-1	pancreas:	n/a	n/a
46	MAX	chr12:50614254-50615430	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50614024..50616982-chr12:50677879..50679870,2	K562	blood:
2	chr12:50612057..50616588-chr12:50616735..50619930,4	MCF-7	breast:
3	chr12:50561156..50562922-chr12:50613932..50615830,2	K562	blood:
4	chr12:50611760..50615008-chr12:50615147..50618243,5	MCF-7	breast:
5	chr12:50614138..50615726-chr12:50704917..50707484,2	MCF-7	breast:
6	chr12:50594550..50596135-chr12:50613800..50616360,2	K562	blood:
7	chr12:50614322..50618314-chr12:50675052..50679891,5	K562	blood:
8	chr12:50505504..50507655-chr12:50614479..50616710,2	MCF-7	breast:
9	chr12:50505161..50506751-chr12:50614441..50616699,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CERS5-2	chr12:50613600-50614726	ENSG00000251589

No data

Variant related genes	Relation type
ENSG00000257531	TF binding region
LIMA1	TF binding region
ENSG00000050405	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000203433	Chromatin interaction
ENSG00000196082	Chromatin interaction
ENSG00000139624	Chromatin interaction
ENSG00000272368	Chromatin interaction
ENSG00000203425	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10506292	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10783344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10783349	0.84[EUR][1000 genomes]
rs10783350	0.82[EUR][1000 genomes]
rs10783353	0.80[ASN][1000 genomes]
rs10876013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876014	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876015	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876016	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876017	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876018	0.82[EUR][1000 genomes]
rs10876023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10876024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10876028	0.81[ASN][1000 genomes]
rs11169314	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169315	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11169317	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169319	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169331	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11169339	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11169345	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169347	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169349	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169351	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11169357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169359	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11169367	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169369	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169370	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169371	0.83[EUR][1000 genomes]
rs11169373	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169374	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11169375	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169376	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169377	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11169379	0.82[EUR][1000 genomes]
rs11169386	0.81[EUR][1000 genomes]
rs11169390	0.82[ASN][1000 genomes]
rs11169391	0.81[ASN][1000 genomes]
rs11169395	0.80[ASN][1000 genomes]
rs11833608	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs11836169	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11838347	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12299758	0.83[ASN][1000 genomes]
rs12303082	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[ASN][1000 genomes]
rs12367872	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.88[YRI][hapmap]
rs12422417	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[ASN][1000 genomes]
rs12424691	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12424713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12424876	0.80[ASN][1000 genomes]
rs12425229	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12425705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12426444	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12811291	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12814094	0.82[ASN][1000 genomes]
rs12821454	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12823506	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12828340	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12832940	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17124562	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1972611	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1984993	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2009072	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2111988	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2302900	0.96[CEU][hapmap];0.89[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2358539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28628775	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34039674	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34614542	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34825838	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34849043	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34858415	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35209607	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35535298	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35663729	0.82[EUR][1000 genomes]
rs35768991	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35878271	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35933908	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812825	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3861100	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4348979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[ASN][1000 genomes]
rs4421818	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[ASN][1000 genomes]
rs4768855	0.80[ASN][1000 genomes]
rs4768872	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768949	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4768951	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs6580730	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6580735	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6580736	0.96[CEU][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs6580737	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580738	0.96[CEU][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs6580739	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6580740	0.83[EUR][1000 genomes]
rs6580741	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67138019	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7132551	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7134595	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs7135777	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7138420	0.96[CEU][hapmap];0.82[TSI][hapmap]
rs7138622	0.96[CEU][hapmap]
rs71465002	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7295847	0.83[ASN][1000 genomes]
rs7296291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs7301186	0.80[EUR][1000 genomes]
rs7302363	0.82[ASN][1000 genomes]
rs7304445	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7305995	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7308095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7308885	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310541	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7311378	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7311491	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7311973	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7312252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs7314465	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7315690	0.96[CEU][hapmap];0.82[TSI][hapmap]
rs7315871	0.83[EUR][1000 genomes]
rs7315955	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7399343	0.82[EUR][1000 genomes]
rs7485486	0.83[EUR][1000 genomes]
rs7486747	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7488682	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7489214	0.82[EUR][1000 genomes]
rs7953953	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7956468	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7974648	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7979830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7980911	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9668187	0.80[ASN][1000 genomes]
rs9705460	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9739363	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs1362983	DIP2B	cis	Lymphoblastoid	GTEx
rs1362983	DIP2B	Cis_1M	lymphoblastoid	RTeQTL
rs1362983	CELA1	cis	parietal	SCAN
rs1362983	SLC38A1	cis	parietal	SCAN
rs1362983	DIP2B	cis	multi-tissue	Pritchard
rs1362983	KIAA1463	cis	multi-tissue	Pritchard
rs1362983	LASS5	cis	parietal	SCAN
rs1362983	CERS5	cis	Nerve Tibial	GTEx
rs1362983	ATF1	cis	Artery Tibial	GTEx
rs1362983	LASS5	cis	cerebellum	SCAN
rs1362983	FAIM2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50591600-50615600	Weak transcription	HepG2	liver
2	chr12:50599400-50615000	Weak transcription	Liver	Liver
3	chr12:50599800-50635800	Weak transcription	Pancreas	Pancrea
4	chr12:50600000-50615800	Weak transcription	Lung	lung
5	chr12:50609200-50615200	Weak transcription	Stomach Mucosa	stomach
6	chr12:50609200-50633200	Weak transcription	Small Intestine	intestine
7	chr12:50611600-50615000	Weak transcription	Fetal Heart	heart
8	chr12:50611600-50615200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:50612400-50616400	Active TSS	NHEK	skin
10	chr12:50612600-50616000	Weak transcription	Gastric	stomach
11	chr12:50612600-50616000	Weak transcription	Spleen	Spleen
12	chr12:50612600-50616600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:50612600-50616800	Active TSS	HSMMtube	muscle
14	chr12:50612600-50616800	Active TSS	NHLF	lung
15	chr12:50613000-50616800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:50613000-50616800	Active TSS	HSMM	muscle
17	chr12:50613200-50616600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:50613200-50616800	Active TSS	NHDF-Ad	bronchial
19	chr12:50613200-50617200	Active TSS	GM12878-XiMat	blood
20	chr12:50613400-50614800	Genic enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:50613400-50616600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:50613400-50616600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr12:50613400-50616800	Active TSS	Aorta	Aorta
24	chr12:50613600-50615400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr12:50613600-50616200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:50613600-50616400	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr12:50613600-50616600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:50613600-50616600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:50613600-50616600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr12:50613600-50616600	Active TSS	HMEC	breast
31	chr12:50613600-50616800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:50613600-50616800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:50613600-50616800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr12:50613800-50615600	Active TSS	Adipose Nuclei	Adipose
35	chr12:50613800-50616600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:50613800-50616600	Active TSS	Fetal Muscle Trunk	muscle
37	chr12:50613800-50616600	Active TSS	NH-A	brain
38	chr12:50613800-50616600	Active TSS	Osteobl	bone
39	chr12:50613800-50616800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:50613800-50616800	Active TSS	Right Atrium	heart
41	chr12:50613800-50617000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:50614000-50614800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:50614000-50614800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
44	chr12:50614000-50614800	Flanking Active TSS	K562	blood
45	chr12:50614000-50615000	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:50614000-50615400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr12:50614000-50615400	Active TSS	Brain Germinal Matrix	brain
48	chr12:50614000-50616000	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr12:50614000-50616400	Active TSS	Right Ventricle	heart
50	chr12:50614000-50616600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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