Variant report

Variant	rs2279457
Chromosome Location	chr3:160168292-160168293
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	POLR2A	chr3:160166631-160168726	PBDE	blood:	n/a	n/a
2	BHLHE40	chr3:160166978-160168385	K562	blood:	n/a	chr3:160167198-160167214
3	PML	chr3:160166789-160168418	K562	blood:	n/a	n/a
4	POLR2A	chr3:160166912-160168340	Raji	blood:	n/a	n/a
5	HEY1	chr3:160166688-160168801	K562	blood:	n/a	chr3:160167195-160167210
6	TAF1	chr3:160166916-160168375	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr3:160166848-160168419	GM12878	blood:	n/a	n/a
8	UBTF	chr3:160166862-160168424	K562	blood:	n/a	n/a
9	POLR2A	chr3:160167021-160168906	K562	blood:	n/a	n/a
10	EP300	chr3:160167161-160168359	GM12878	blood:	n/a	chr3:160168160-160168170
11	MYC	chr3:160167345-160168408	H1-hESC	embryonic stem cell:	n/a	n/a
12	IRF1	chr3:160166583-160168714	K562	blood:	n/a	chr3:160167587-160167601 chr3:160168025-160168039 chr3:160168457-160168467
13	MYC	chr3:160167093-160168316	K562	blood:	n/a	n/a
14	POLR2A	chr3:160166840-160168551	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:160166810-160168302	GM18505	blood:	n/a	n/a
16	MAX	chr3:160166589-160168300	A549	lung:	n/a	n/a
17	POLR2A	chr3:160167038-160168314	HUVEC	blood vessel:	n/a	n/a
18	MTA3	chr3:160166674-160168451	GM12878	blood:	n/a	n/a
19	TBL1XR1	chr3:160166977-160168453	K562	blood:	n/a	n/a
20	MAZ	chr3:160166659-160168500	K562	blood:	n/a	n/a
21	NR2F2	chr3:160166978-160168567	K562	blood:	n/a	n/a
22	TAL1	chr3:160166730-160168406	K562	blood:	n/a	n/a
23	TRIM28	chr3:160166891-160168640	K562	blood:	n/a	n/a
24	MAX	chr3:160167005-160168385	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr3:160167116-160168315	H1-neurons	neurons:	n/a	chr3:160167949-160167962
26	POLR2A	chr3:160166687-160168359	PANC-1	pancreas:	n/a	n/a
27	TAF1	chr3:160166913-160168669	H1-hESC	embryonic stem cell:	n/a	n/a
28	ELF1	chr3:160166910-160168374	MCF-7	breast:	n/a	chr3:160168139-160168151
29	MYC	chr3:160166940-160168695	K562	blood:	n/a	n/a
30	EP300	chr3:160167788-160168366	H1-hESC	embryonic stem cell:	n/a	chr3:160168160-160168170
31	E2F6	chr3:160167256-160168389	K562	blood:	n/a	chr3:160167802-160167811 chr3:160168014-160168025 chr3:160168015-160168030 chr3:160168014-160168025 chr3:160167658-160167667 chr3:160168014-160168025
32	MAX	chr3:160166958-160168560	K562	blood:	n/a	n/a
33	MYC	chr3:160166730-160168532	K562	blood:	n/a	n/a
34	TBP	chr3:160166732-160168499	GM12878	blood:	n/a	n/a
35	SIN3AK20	chr3:160167908-160168315	K562	blood:	n/a	n/a
36	RCOR1	chr3:160166708-160168694	K562	blood:	n/a	n/a
37	MYC	chr3:160166828-160168532	K562	blood:	n/a	n/a
38	ZNF384	chr3:160167098-160168780	K562	blood:	n/a	n/a
39	ZNF143	chr3:160166700-160168529	K562	blood:	n/a	n/a
40	BACH1	chr3:160168084-160168379	K562	blood:	n/a	n/a
41	SP4	chr3:160166893-160168319	H1-hESC	embryonic stem cell:	n/a	chr3:160168023-160168039
42	STAT5A	chr3:160166889-160168328	K562	blood:	n/a	chr3:160167135-160167147 chr3:160167942-160167954
43	GTF2F1	chr3:160167187-160168342	K562	blood:	n/a	n/a
44	FOXA2	chr3:160167280-160168306	A549	lung:	n/a	n/a
45	UBTF	chr3:160166674-160168628	K562	blood:	n/a	n/a
46	POLR2A	chr3:160166892-160168734	H1-hESC	embryonic stem cell:	n/a	n/a
47	FOXM1	chr3:160166755-160168334	ECC-1	luminal epithelium:	n/a	n/a
48	ZMIZ1	chr3:160166923-160168741	K562	blood:	n/a	n/a
49	MAZ	chr3:160165957-160168402	IMR90	lung:	n/a	n/a
50	E2F4	chr3:160167088-160168416	K562	blood:	n/a	chr3:160167802-160167811 chr3:160168014-160168025 chr3:160168015-160168030 chr3:160168014-160168025 chr3:160167658-160167667 chr3:160168014-160168025

No.	Distal block	Cell Line	Cell type
1	chr3:160099375..160102379-chr3:160166288..160168879,3	MCF-7	breast:
2	chr3:160116116..160127665-chr3:160158037..160169627,42	K562	blood:
3	chr3:160128237..160130777-chr3:160166954..160168598,2	K562	blood:
4	chr3:160167035..160169821-chr3:160232708..160234646,2	K562	blood:
5	chr3:160113853..160115916-chr3:160167790..160169810,2	K562	blood:
6	chr3:160166147..160168803-chr3:160282163..160283900,2	MCF-7	breast:
7	chr3:160166836..160169216-chr3:161090028..161092220,2	MCF-7	breast:
8	chr3:160167702..160169385-chr3:160272825..160274892,2	K562	blood:
9	chr3:160164471..160170330-chr3:160281681..160284179,8	K562	blood:
10	chr3:160165891..160168986-chr3:160283501..160286413,4	K562	blood:
11	chr3:160116116..160124648-chr3:160162504..160168767,20	K562	blood:

Variant related genes	Relation type
TRIM59	TF binding region
ENSG00000248710	TF binding region
ENSG00000244009	TF binding region
ENSG00000196542	Chromatin interaction
ENSG00000113810	Chromatin interaction
ENSG00000068885	Chromatin interaction
ENSG00000238741	Chromatin interaction
ENSG00000186432	Chromatin interaction
ENSG00000207779	Chromatin interaction
ENSG00000198987	Chromatin interaction
ENSG00000229320	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10212236	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1047210	0.85[CEU][hapmap]
rs10513551	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11706810	0.85[CEU][hapmap]
rs11918749	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1317365	0.81[CEU][hapmap];0.87[GIH][hapmap]
rs13403	0.83[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1451761	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1451762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1451764	0.83[EUR][1000 genomes]
rs1551190	0.89[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1584688	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17236473	0.85[CEU][hapmap];0.84[JPT][hapmap]
rs17236544	0.89[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];0.86[TSI][hapmap];0.85[ASN][1000 genomes]
rs17570467	0.96[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs17826221	0.85[CEU][hapmap]
rs1882126	0.96[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.84[TSI][hapmap]
rs1882127	0.89[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.86[ASN][1000 genomes]
rs1920642	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1920662	0.85[ASN][1000 genomes]
rs1920664	0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap];0.85[ASN][1000 genomes]
rs1953506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2152425	0.88[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2305407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28705750	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2886825	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3773372	0.94[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3851365	0.85[CEU][hapmap]
rs3851366	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4091703	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41272947	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4621370	0.85[ASN][1000 genomes]
rs4679881	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4679885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4679888	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4679889	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4679890	0.92[CEU][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4679891	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4679899	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4680576	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4680579	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4680580	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4680585	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680587	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4680588	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55687857	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55731730	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56197102	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56394279	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58322641	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58665246	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60009222	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60460891	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62272186	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62272791	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62272792	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62272794	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62272800	0.84[EUR][1000 genomes]
rs6441313	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6441314	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6441319	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6441320	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];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6441324	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6768975	0.83[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs6791261	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6792612	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6793560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6798183	0.85[CEU][hapmap]
rs6798668	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6801300	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6803828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6808083	0.94[CHB][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6809153	0.85[CEU][hapmap]
rs6809313	0.85[CEU][hapmap];0.83[GIH][hapmap]
rs721022	0.80[CEU][hapmap];0.83[GIH][hapmap]
rs721023	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73154592	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7356111	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7611130	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7618974	0.94[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7620828	0.84[CEU][hapmap]
rs7621724	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7624902	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7627555	0.85[CEU][hapmap]
rs7627749	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7627756	0.92[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7629202	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7629423	0.80[JPT][hapmap]
rs7631792	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7634108	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7634826	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7640072	0.96[CEU][hapmap];0.83[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7643779	0.89[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7645832	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7647873	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs869468	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9798898	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9799314	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9862595	0.92[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.86[ASN][1000 genomes]
rs9968151	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1000453	chr3:159853305-160366357	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
3	nsv536779	chr3:159853305-160366357	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
4	esv1800136	chr3:159950498-160278160	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	esv1801767	chr3:159950498-160279411	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv1008519	chr3:160038710-160292589	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
7	esv1801686	chr3:160089896-160248363	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	211 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2279457	SMC4	cis	lymphoblastoid	seeQTL
rs2279457	IFT80	cis	parietal	SCAN
rs2279457	EGFL6	trans	lymphoblastoid	seeQTL
rs2279457	IFT80,TRIM59	cis	brain	BrainEAC
rs2279457	SMC4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160164800-160169000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr3:160165000-160169000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr3:160165400-160169000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr3:160165600-160168600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr3:160165800-160168400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:160166000-160168600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr3:160166200-160168400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:160166200-160168400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr3:160166200-160168400	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr3:160166200-160168400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr3:160166200-160168400	Active TSS	Duodenum Mucosa	Duodenum
12	chr3:160166200-160168600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr3:160166400-160168400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr3:160166400-160168400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr3:160166400-160169000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr3:160166600-160168400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr3:160166600-160168400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:160166600-160168400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
19	chr3:160166600-160168600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:160166600-160168600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:160166600-160168600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:160166800-160168400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:160167000-160168400	Flanking Active TSS	Placenta	Placenta
24	chr3:160167000-160168400	Flanking Active TSS	Right Ventricle	heart
25	chr3:160167000-160168400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr3:160167200-160168400	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr3:160167200-160168400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
28	chr3:160167400-160168400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
29	chr3:160167600-160168400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr3:160167600-160168400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:160167600-160168400	Active TSS	Brain Anterior Caudate	brain
32	chr3:160167600-160168400	Enhancers	Spleen	Spleen
33	chr3:160167600-160168800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:160167800-160168400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr3:160167800-160168400	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr3:160167800-160168400	Enhancers	Primary hematopoietic stem cells	blood
37	chr3:160167800-160168400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr3:160167800-160168400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:160167800-160168400	Flanking Active TSS	Colonic Mucosa	Colon
40	chr3:160167800-160168400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr3:160167800-160168400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
42	chr3:160167800-160168400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
43	chr3:160167800-160168400	Enhancers	Small Intestine	intestine
44	chr3:160167800-160168400	Enhancers	HepG2	liver
45	chr3:160167800-160168400	Flanking Active TSS	HMEC	breast
46	chr3:160167800-160168600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:160167800-160168600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:160167800-160168600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:160167800-160168600	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr3:160167800-160168600	Flanking Active TSS	Fetal Thymus	thymus

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