Variant report

Variant	rs1981846
Chromosome Location	chr5:96268862-96268863
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr5:96267264-96273025	GM12878	blood:	n/a	n/a
2	MXI1	chr5:96268043-96268863	GM12878	blood:	n/a	n/a
3	CEBPB	chr5:96268529-96268876	K562	blood:	n/a	n/a
4	IRF1	chr5:96268406-96268980	K562	blood:	n/a	n/a
5	CREB1	chr5:96268433-96268973	K562	blood:	n/a	n/a
6	POLR2A	chr5:96267158-96273083	GM12878	blood:	n/a	n/a
7	IRF1	chr5:96268293-96268911	K562	blood:	n/a	n/a
8	EP300	chr5:96268516-96268898	GM12878	blood:	n/a	chr5:96268688-96268697
9	TBL1XR1	chr5:96268232-96268931	K562	blood:	n/a	n/a
10	MYC	chr5:96268551-96268892	NB4	blood:	n/a	n/a
11	EP300	chr5:96268474-96268881	K562	blood:	n/a	chr5:96268688-96268697
12	ATF2	chr5:96268494-96269075	GM12878	blood:	n/a	n/a
13	NFIC	chr5:96266924-96269107	GM12878	blood:	n/a	n/a
14	GATA2	chr5:96268385-96268970	K562	blood:	n/a	chr5:96268501-96268511 chr5:96268719-96268740
15	MYC	chr5:96268537-96268912	K562	blood:	n/a	n/a
16	TEAD4	chr5:96268216-96268924	K562	blood:	n/a	n/a
17	POLR2A	chr5:96268644-96272934	GM12892	blood:	n/a	n/a
18	GATA1	chr5:96267929-96269867	PBDE	blood:	n/a	chr5:96268501-96268511 chr5:96268719-96268740
19	PML	chr5:96266960-96273172	GM12878	blood:	n/a	n/a
20	STAT5A	chr5:96268494-96268924	K562	blood:	n/a	n/a
21	ZNF384	chr5:96268617-96269442	GM12878	blood:	n/a	n/a
22	EP300	chr5:96267821-96269002	K562	blood:	n/a	chr5:96268688-96268697 chr5:96268042-96268056
23	EBF1	chr5:96268686-96268886	GM12878	blood:	n/a	n/a
24	STAT5A	chr5:96268425-96268939	K562	blood:	n/a	n/a
25	RUNX3	chr5:96268487-96268974	GM12878	blood:	n/a	n/a
26	TBP	chr5:96267257-96268993	GM12878	blood:	n/a	n/a
27	CCNT2	chr5:96268513-96268930	K562	blood:	n/a	n/a
28	POLR2A	chr5:96268685-96273087	GM12891	blood:	n/a	n/a
29	POLR2A	chr5:96268814-96273013	Raji	blood:	n/a	n/a
30	CEBPD	chr5:96268362-96268923	K562	blood:	n/a	chr5:96268747-96268758
31	GATA1	chr5:96267043-96269474	K562	blood:	n/a	chr5:96268501-96268511 chr5:96268719-96268740
32	SMARCA4	chr5:96268286-96268976	K562	blood:	n/a	n/a
33	ATF2	chr5:96268479-96268931	GM12878	blood:	n/a	n/a
34	JUND	chr5:96268428-96268926	K562	blood:	n/a	n/a
35	SMARCB1	chr5:96267865-96268980	K562	blood:	n/a	n/a
36	ARID3A	chr5:96268276-96268913	K562	blood:	n/a	n/a
37	MAZ	chr5:96268574-96268903	K562	blood:	n/a	n/a
38	TAL1	chr5:96268249-96268946	K562	blood:	n/a	n/a
39	POLR2A	chr5:96268587-96273078	GM18505	blood:	n/a	n/a
40	CEBPB	chr5:96268486-96268948	K562	blood:	n/a	n/a
41	POLR2A	chr5:96268807-96273159	GM12878	blood:	n/a	n/a
42	ZMIZ1	chr5:96268245-96268914	K562	blood:	n/a	n/a
43	ZNF384	chr5:96268346-96269097	K562	blood:	n/a	n/a
44	POLR2A	chr5:96268818-96273031	GM12878	blood:	n/a	n/a
45	RCOR1	chr5:96268430-96269002	K562	blood:	n/a	n/a
46	TEAD4	chr5:96268186-96268982	K562	blood:	n/a	n/a
47	CUX1	chr5:96268155-96268880	K562	blood:	n/a	chr5:96268438-96268452
48	TRIM28	chr5:96268433-96268882	K562	blood:	n/a	n/a
49	PML	chr5:96268483-96268918	K562	blood:	n/a	n/a
50	RCOR1	chr5:96268455-96268867	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:96267069..96273023-chr5:96293959..96302488,9	K562	blood:
2	chr5:96268592..96270496-chr5:96515475..96517242,2	MCF-7	breast:
3	chr5:96212164..96213676-chr5:96267339..96268943,2	MCF-7	breast:
4	chr5:96268234..96272758-chr5:96290815..96294670,4	K562	blood:
5	chr5:96087767..96089736-chr5:96268436..96270992,2	MCF-7	breast:
6	chr5:96268127..96270774-chr5:96299213..96300719,2	K562	blood:
7	chr5:96268279..96270263-chr5:96284683..96286210,2	K562	blood:
8	chr5:96141925..96145850-chr5:96265867..96272606,9	K562	blood:
9	chr5:96268650..96270760-chr5:96289002..96291090,2	MCF-7	breast:

No data

Variant related genes	Relation type
LNPEP	TF binding region
ENSG00000113441	Chromatin interaction
ENSG00000200884	Chromatin interaction
ENSG00000164307	Chromatin interaction
ENSG00000164308	Chromatin interaction

Extended variants
information (count: 154 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10061936	0.90[EUR][1000 genomes]
rs10069361	0.92[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs10071975	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10076136	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1019503	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10434708	0.84[ASN][1000 genomes]
rs10434709	1.00[CHB][hapmap];0.89[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.80[TSI][hapmap];0.84[ASN][1000 genomes]
rs10463196	0.81[ASN][1000 genomes]
rs1056893	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11135482	1.00[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap]
rs11135483	0.84[ASN][1000 genomes]
rs11135484	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.80[TSI][hapmap];0.84[ASN][1000 genomes]
rs11135485	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11750025	0.84[ASN][1000 genomes]
rs1216565	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216568	0.90[EUR][1000 genomes]
rs1216569	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1216570	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12189125	0.84[ASN][1000 genomes]
rs1230381	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1230382	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12516666	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs12654015	0.84[ASN][1000 genomes]
rs12716486	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13163165	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13167902	0.95[CHB][hapmap];0.85[JPT][hapmap];0.80[TSI][hapmap]
rs13189819	0.84[ASN][1000 genomes]
rs1363975	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1363977	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1423357	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1423568	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1559267	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1559354	0.84[ASN][1000 genomes]
rs1559355	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs17087165	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs171647	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1820149	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs187265	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs193993	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs193994	0.95[EUR][1000 genomes]
rs1974871	1.00[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.80[TSI][hapmap]
rs2042383	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2042385	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2112974	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2113050	0.83[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2113189	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113190	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2113191	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2161548	0.81[CEU][hapmap]
rs2161657	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2161658	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2247650	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2248374	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2255546	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2255633	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2255634	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2255637	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2278018	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2278019	1.00[CHB][hapmap];0.89[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.80[TSI][hapmap];0.84[ASN][1000 genomes]
rs2287988	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs248215	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs251339	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs251342	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs251344	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2548520	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2548521	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2548522	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2548523	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2548524	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2548526	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2548527	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2548528	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2548529	0.88[CEU][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2548533	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2548534	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2548535	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2548536	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2548537	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2548538	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2548539	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2548540	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2549781	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2549782	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2549784	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2549785	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2549786	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549787	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549788	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549789	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549790	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549791	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549792	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2549795	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549796	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549797	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549798	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2549799	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2549800	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2549801	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2617434	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs27292	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs27294	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs27296	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs27299	0.82[EUR][1000 genomes]
rs27305	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs27397	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs27436	0.84[CEU][hapmap]
rs27613	0.92[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs27621	0.84[EUR][1000 genomes]
rs27747	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2910686	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2910688	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2910787	0.92[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2927608	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3096167	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs31398	0.86[EUR][1000 genomes]
rs33934033	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3734015	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs38030	0.86[EUR][1000 genomes]
rs38035	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs38036	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38037	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs38040	0.92[CEU][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs38041	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs38042	0.85[CEU][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3849750	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs42983	0.86[EUR][1000 genomes]
rs4360063	0.85[JPT][hapmap]
rs4869311	0.84[ASN][1000 genomes]
rs4869312	0.84[ASN][1000 genomes]
rs4869313	0.84[ASN][1000 genomes]
rs4869314	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs56197090	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6556943	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6859160	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6868302	0.84[ASN][1000 genomes]
rs6870825	0.94[EUR][1000 genomes]
rs6873441	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874656	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6879678	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7700332	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7713127	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7721944	0.84[ASN][1000 genomes]
rs7722694	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7736466	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9127	0.81[CEU][hapmap];0.82[CHD][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs1981846	ERAP2	cis	Artery Aorta	GTEx
rs1981846	ERAP2	cis	Muscle Skeletal	GTEx
rs1981846	ERAP2	cis	Esophagus Mucosa	GTEx
rs1981846	ERAP2	cis	lymphoblastoid	GTEx
rs1981846	LRAP	cis	uninvolved skin	skin_eQTL
rs1981846	ERAP2	cis	Thyroid	GTEx
rs1981846	ERAP2	cis	Stomach	GTEx
rs1981846	ERAP2	cis	Whole Blood	GTEx
rs1981846	ERAP2	cis	Nerve Tibial	GTEx
rs1981846	ERAP2	cis	parietal	SCAN
rs1981846	ERAP2	cis	Esophagus Muscularis	GTEx
rs1981846	ERAP2	cis	Heart Left Ventricle	GTEx
rs1981846	LRAP	cis	normal skin	skin_eQTL
rs1981846	ERAP2	cis	Skin Sun Exposed Lower leg	GTEx
rs1981846	ERAP2	cis	Artery Tibial	GTEx
rs1981846	LRAP	cis	lesional skin	skin_eQTL
rs1981846	ERAP2	cis	lymphoblastoid	seeQTL
rs1981846	ERAP2	cis	cerebellum	SCAN
rs1981846	LNPEP	cis	parietal	SCAN
rs1981846	ERAP2	cis	Adipose Subcutaneous	GTEx
rs1981846	LRAP	Cis_1M	lymphoblastoid	RTeQTL
rs1981846	ERAP2	cis	lung	GTEx

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96221600-96269200	Weak transcription	Fetal Brain Male	brain
2	chr5:96229600-96269600	Weak transcription	Aorta	Aorta
3	chr5:96229800-96270000	Weak transcription	Esophagus	oesophagus
4	chr5:96237400-96269200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:96246000-96270200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:96249800-96270000	Weak transcription	Lung	lung
7	chr5:96257400-96269600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:96260200-96269000	Weak transcription	Fetal Stomach	stomach
9	chr5:96260200-96269400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:96264000-96269200	Enhancers	Fetal Heart	heart
11	chr5:96264400-96269000	Weak transcription	Fetal Brain Female	brain
12	chr5:96265000-96270000	Weak transcription	Pancreas	Pancrea
13	chr5:96265400-96270000	Weak transcription	Left Ventricle	heart
14	chr5:96266000-96269400	Enhancers	Placenta	Placenta
15	chr5:96266000-96269400	Weak transcription	Right Ventricle	heart
16	chr5:96266200-96269000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:96266600-96269200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:96267000-96269000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:96267000-96269600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr5:96267000-96269600	Enhancers	Fetal Lung	lung
21	chr5:96267200-96269000	Weak transcription	Psoas Muscle	Psoas
22	chr5:96267200-96269400	Enhancers	Adipose Nuclei	Adipose
23	chr5:96267400-96269200	Enhancers	Brain Anterior Caudate	brain
24	chr5:96267600-96269200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr5:96267600-96269200	Weak transcription	Stomach Mucosa	stomach
26	chr5:96267600-96270400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr5:96267800-96269200	Active TSS	Duodenum Mucosa	Duodenum
28	chr5:96267800-96269200	Enhancers	Fetal Intestine Large	intestine
29	chr5:96267800-96269400	Enhancers	HUVEC	blood vessel
30	chr5:96267800-96270000	Flanking Active TSS	Dnd41	blood
31	chr5:96267800-96270200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr5:96267800-96270400	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr5:96267800-96270600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:96268000-96269000	Weak transcription	Brain Germinal Matrix	brain
35	chr5:96268000-96269000	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:96268000-96269000	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:96268000-96269000	Weak transcription	HepG2	liver
38	chr5:96268000-96269200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:96268000-96269200	Weak transcription	Right Atrium	heart
40	chr5:96268200-96269000	Weak transcription	Brain Angular Gyrus	brain
41	chr5:96268200-96269200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr5:96268200-96269400	Enhancers	Brain Hippocampus Middle	brain
43	chr5:96268200-96269400	Enhancers	Fetal Intestine Small	intestine
44	chr5:96268200-96269600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr5:96268200-96269600	Enhancers	Hela-S3	cervix
46	chr5:96268200-96269600	Enhancers	NHEK	skin
47	chr5:96268200-96270200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr5:96268200-96270400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr5:96268200-96274000	Active TSS	GM12878-XiMat	blood
50	chr5:96268400-96269000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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