Variant report

Variant	rs1805799
Chromosome Location	chr8:90995971-90995972
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	RELA	chr8:90995911-90997095	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:90995890-90997057	GM12878	blood:	n/a	n/a
3	TEAD4	chr8:90995861-90997187	K562	blood:	n/a	n/a
4	POLR2A	chr8:90993272-90997595	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:90995742-90997028	GM12878	blood:	n/a	n/a
6	CEBPB	chr8:90995608-90997140	GM12878	blood:	n/a	n/a
7	ESR1	chr8:90995723-90996317	T-47D	breast:	n/a	n/a
8	POLR2A	chr8:90995392-90997299	GM19099	blood:	n/a	n/a
9	CTCF	chr8:90995855-90997305	MCF-7	breast:	n/a	chr8:90996955-90996968 chr8:90996956-90996966 chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996954-90996970 chr8:90996418-90996431 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536 chr8:90996959-90996968 chr8:90996948-90996969 chr8:90996953-90996971 chr8:90996955-90996968
10	POLR2A	chr8:90995925-90997049	GM15510	blood:	n/a	n/a
11	STAT3	chr8:90995847-90997115	GM12878	blood:	n/a	chr8:90996295-90996306 chr8:90996473-90996485
12	IRF1	chr8:90995653-90997167	K562	blood:	n/a	chr8:90996293-90996306 chr8:90996288-90996302 chr8:90996293-90996306 chr8:90996292-90996306 chr8:90996295-90996309 chr8:90996295-90996305 chr8:90996291-90996305 chr8:90996294-90996306 chr8:90996276-90996296 chr8:90996294-90996306 chr8:90996295-90996306 chr8:90996293-90996306 chr8:90996287-90996307 chr8:90996296-90996307 chr8:90996289-90996310
13	MYC	chr8:90995736-90997170	K562	blood:	n/a	chr8:90996485-90996495
14	MXI1	chr8:90995894-90997109	HepG2	liver:	n/a	n/a
15	IRF1	chr8:90995863-90996544	K562	blood:	n/a	chr8:90996293-90996306 chr8:90996288-90996302 chr8:90996293-90996306 chr8:90996292-90996306 chr8:90996295-90996309 chr8:90996295-90996305 chr8:90996291-90996305 chr8:90996294-90996306 chr8:90996276-90996296 chr8:90996294-90996306 chr8:90996295-90996306 chr8:90996293-90996306 chr8:90996287-90996307 chr8:90996296-90996307 chr8:90996289-90996310
16	GABPA	chr8:90995963-90997178	SK-N-SH	brain:	n/a	n/a
17	ELK1	chr8:90995837-90997039	GM12878	blood:	n/a	n/a
18	NFIC	chr8:90995703-90997185	GM12878	blood:	n/a	chr8:90996069-90996097 chr8:90996129-90996145
19	POLR2A	chr8:90995748-90997177	MCF-7	breast:	n/a	n/a
20	MXI1	chr8:90995560-90997553	IMR90	lung:	n/a	n/a
21	STAT5A	chr8:90995926-90996994	GM12878	blood:	n/a	chr8:90996295-90996306 chr8:90996473-90996485
22	TBP	chr8:90994830-90997193	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:90993336-90997456	MCF10A-Er-Src	breast:	n/a	n/a
24	GATA3	chr8:90995660-90997160	A549	lung:	n/a	chr8:90995983-90995996 chr8:90995994-90996006
25	MAX	chr8:90995937-90997099	GM12878	blood:	n/a	chr8:90996485-90996495
26	RAD21	chr8:90995880-90997361	HCT-116	colon:	n/a	chr8:90996520-90996539 chr8:90996525-90996535 chr8:90996525-90996537 chr8:90996523-90996536 chr8:90996960-90996969 chr8:90996951-90996970 chr8:90996954-90996967 chr8:90996955-90996965 chr8:90996521-90996535
27	PML	chr8:90995970-90997085	K562	blood:	n/a	n/a
28	KAP1	chr8:90995774-90997061	HEK293	kidney:	n/a	n/a
29	RCOR1	chr8:90995760-90997068	Hela-S3	cervix:	n/a	n/a
30	SPI1	chr8:90995920-90996779	GM12878	blood:	n/a	n/a
31	HDAC2	chr8:90995746-90997169	MCF-7	breast:	n/a	n/a
32	MAFF	chr8:90995846-90996434	K562	blood:	n/a	n/a
33	MYC	chr8:90995800-90997125	MCF10A-Er-Src	breast:	n/a	chr8:90996485-90996495
34	RELA	chr8:90995937-90997151	GM15510	blood:	n/a	n/a
35	SP1	chr8:90995923-90997097	A549	lung:	n/a	chr8:90996499-90996511 chr8:90996481-90996495 chr8:90996500-90996509 chr8:90996501-90996510 chr8:90996499-90996511
36	SMC3	chr8:90995741-90997774	SK-N-SH	brain:	n/a	chr8:90996521-90996528 chr8:90996955-90996969 chr8:90996955-90996965 chr8:90996961-90996969 chr8:90996521-90996535 chr8:90996525-90996535
37	TEAD4	chr8:90995785-90997168	K562	blood:	n/a	n/a
38	ZNF217	chr8:90995845-90997029	MCF-7	breast:	n/a	n/a
39	JUND	chr8:90995796-90997206	K562	blood:	n/a	n/a
40	SIN3AK20	chr8:90995469-90997272	MCF-7	breast:	n/a	n/a
41	FOSL2	chr8:90995928-90996567	A549	lung:	n/a	n/a
42	SMC3	chr8:90995964-90997409	GM12878	blood:	n/a	chr8:90996521-90996528 chr8:90996955-90996969 chr8:90996955-90996965 chr8:90996961-90996969 chr8:90996521-90996535 chr8:90996525-90996535
43	POLR2A	chr8:90995920-90997103	K562	blood:	n/a	n/a
44	MAX	chr8:90995780-90997129	K562	blood:	n/a	chr8:90996485-90996495
45	MYC	chr8:90995599-90997131	K562	blood:	n/a	chr8:90996485-90996495
46	MXI1	chr8:90995696-90997087	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr8:90995922-90997128	HUVEC	blood vessel:	n/a	n/a
48	GATA3	chr8:90995663-90996297	SH-SY5Y	brain:	n/a	chr8:90995983-90995996 chr8:90995994-90996006
49	RELA	chr8:90995804-90997093	GM18951	blood:	n/a	n/a
50	HCFC1	chr8:90995649-90997726	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90995516..90998828-chr8:91010778..91014105,5	K562	blood:
2	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
3	chr8:90995093..90997814-chr8:91010770..91014611,5	MCF-7	breast:
4	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
5	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:
6	chr8:90735826..90740064-chr8:90995306..90998250,3	MCF-7	breast:
7	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
8	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
9	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
10	chr8:90995523..90999017-chr8:91656346..91659175,4	K562	blood:
11	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:
12	chr8:90914584..90915234-chr8:90995916..90996860,2	MCF-7	breast:
13	chr8:90790967..90797055-chr8:90994383..90998113,5	MCF-7	breast:
14	chr8:90993651..90998172-chr8:91012740..91014695,4	MCF-7	breast:
15	chr8:90769588..90771314-chr8:90995090..90996692,2	K562	blood:
16	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
17	chr8:90737113..90738638-chr8:90994961..90997124,2	K562	blood:

Variant related genes	Relation type
NBN	TF binding region
ENSG00000164823	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10092098	0.81[CEU][hapmap]
rs10104321	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs10109454	0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs1011682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1011683	0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1061302	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1063045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10956375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11782032	0.81[CEU][hapmap]
rs11784904	0.87[EUR][1000 genomes]
rs12171665	0.86[CEU][hapmap]
rs12549107	0.81[CEU][hapmap]
rs12550313	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12677527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679577	0.81[CEU][hapmap]
rs12680903	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13265193	0.90[CEU][hapmap]
rs13275276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13278453	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13312842	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13312935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16786	0.83[EUR][1000 genomes]
rs1800645	0.81[CEU][hapmap]
rs1805786	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805788	0.83[EUR][1000 genomes]
rs1805790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805793	0.90[TSI][hapmap];0.81[EUR][1000 genomes]
rs1805794	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805796	0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs1805797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805801	0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs1805802	0.82[EUR][1000 genomes]
rs1805803	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805804	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805808	0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1805817	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805833	0.81[EUR][1000 genomes]
rs1805841	0.81[EUR][1000 genomes]
rs1805844	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805868	0.90[TSI][hapmap]
rs1805870	0.85[CEU][hapmap];0.91[MEX][hapmap]
rs1805876	0.81[CEU][hapmap]
rs1805877	0.91[MEX][hapmap]
rs1805889	0.90[TSI][hapmap]
rs2072656	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2073635	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074593	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2074596	1.00[ASW][hapmap];0.90[CEU][hapmap];0.82[CHD][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes]
rs2091887	0.81[CEU][hapmap]
rs2097825	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2107465	0.90[CEU][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs2107466	0.90[TSI][hapmap]
rs2142093	0.90[CEU][hapmap];0.86[CHB][hapmap]
rs2142094	0.90[CEU][hapmap];0.86[CHB][hapmap]
rs2234744	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267543	0.90[CEU][hapmap];0.82[CHD][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.88[YRI][hapmap]
rs2280780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2293774	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2293775	0.81[EUR][1000 genomes]
rs2308962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2339025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3026265	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3026276	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34394839	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3736639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4961166	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4961167	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58579435	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61427172	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470668	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs6470671	0.81[CEU][hapmap]
rs6470713	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs6985793	0.86[CEU][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs6987873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988013	0.82[MEX][hapmap]
rs6990969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6991811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993054	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6994202	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs6999227	0.86[MEX][hapmap]
rs7006322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7010210	0.83[EUR][1000 genomes]
rs7011299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7012846	0.90[CEU][hapmap];0.86[YRI][hapmap]
rs7018118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs709816	0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs71528733	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs741777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs741778	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs7459577	0.81[CEU][hapmap]
rs7459846	0.85[CEU][hapmap]
rs7461859	0.81[CEU][hapmap]
rs7463278	0.81[CEU][hapmap]
rs7463645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7815279	0.81[CEU][hapmap];0.91[MEX][hapmap]
rs7816839	0.90[CEU][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap]
rs7821408	0.81[CEU][hapmap]
rs7822272	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7822950	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7829246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7832009	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs867185	0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs926092	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9649958	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs9650096	0.89[EUR][1000 genomes]
rs9650098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9792335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	esv2752578	chr8:90990091-90995971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1805799	DCAF4L2	cis	parietal	SCAN
rs1805799	DECR1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90927800-90996000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:90987000-90996000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:90987200-90996000	Weak transcription	Spleen	Spleen
4	chr8:90989000-90996000	Weak transcription	Gastric	stomach
5	chr8:90991400-90996200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr8:90991600-90997200	Active TSS	GM12878-XiMat	blood
7	chr8:90993000-90996200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:90993200-90997200	Active TSS	Stomach Smooth Muscle	stomach
9	chr8:90993400-90997200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr8:90993600-90997000	Active TSS	Colon Smooth Muscle	Colon
11	chr8:90993800-90996000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:90993800-90997200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr8:90993800-90997600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:90994000-90997000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:90994000-90997000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:90994000-90997000	Active TSS	Psoas Muscle	Psoas
17	chr8:90994000-90997000	Active TSS	HSMMtube	muscle
18	chr8:90994200-90996400	Active TSS	Right Atrium	heart
19	chr8:90994200-90997000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:90994400-90997000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:90994600-90997000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:90994600-90997000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:90994600-90997000	Active TSS	Brain Anterior Caudate	brain
24	chr8:90994600-90997000	Active TSS	Rectal Smooth Muscle	rectum
25	chr8:90994600-90997000	Active TSS	HSMM	muscle
26	chr8:90994600-90997200	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr8:90994600-90997200	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr8:90994600-90997600	Active TSS	Brain Substantia Nigra	brain
29	chr8:90994800-90997000	Active TSS	A549	lung
30	chr8:90994800-90997200	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr8:90994800-90997200	Active TSS	Muscle Satellite Cultured Cells	--
32	chr8:90994800-90997200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:90994800-90997200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:90994800-90997400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:90994800-90997400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:90994800-90997400	Active TSS	K562	blood
37	chr8:90995000-90996000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr8:90995000-90997000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:90995000-90997000	Active TSS	Aorta	Aorta
40	chr8:90995000-90997000	Active TSS	HMEC	breast
41	chr8:90995000-90997200	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr8:90995200-90996000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr8:90995200-90996000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr8:90995200-90996000	Active TSS	HepG2	liver
45	chr8:90995200-90997000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr8:90995200-90997000	Active TSS	Hela-S3	cervix
47	chr8:90995200-90997000	Active TSS	NHLF	lung
48	chr8:90995200-90997200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr8:90995200-90997200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:90995200-90997200	Active TSS	Primary hematopoietic stem cells short term culture	blood

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