Variant report

Variant	rs1805844
Chromosome Location	chr8:90996258-90996259
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	RELA	chr8:90995911-90997095	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:90995890-90997057	GM12878	blood:	n/a	n/a
3	CTCF	chr8:90996113-90997278	HCT-116	colon:	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
4	TEAD4	chr8:90995861-90997187	K562	blood:	n/a	n/a
5	POLR2A	chr8:90996040-90997157	HL-60	blood:	n/a	n/a
6	POLR2A	chr8:90993272-90997595	GM12878	blood:	n/a	n/a
7	MAX	chr8:90996035-90997093	H1-hESC	embryonic stem cell:	n/a	chr8:90996485-90996495
8	HEY1	chr8:90996157-90997025	K562	blood:	n/a	n/a
9	POLR2A	chr8:90995742-90997028	GM12878	blood:	n/a	n/a
10	RAD21	chr8:90996246-90996696	K562	blood:	n/a	chr8:90996520-90996539 chr8:90996525-90996535 chr8:90996525-90996537 chr8:90996523-90996536 chr8:90996521-90996535
11	CEBPB	chr8:90995608-90997140	GM12878	blood:	n/a	n/a
12	FOS	chr8:90996256-90996999	MCF10A-Er-Src	breast:	n/a	n/a
13	IRF4	chr8:90995986-90996975	GM12878	blood:	n/a	chr8:90996293-90996307 chr8:90996289-90996310
14	ESR1	chr8:90995723-90996317	T-47D	breast:	n/a	n/a
15	CEBPB	chr8:90996037-90996984	K562	blood:	n/a	n/a
16	POLR2A	chr8:90995392-90997299	GM19099	blood:	n/a	n/a
17	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
18	TCF12	chr8:90996127-90997104	A549	lung:	n/a	n/a
19	PML	chr8:90996237-90997003	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:90995925-90997049	GM15510	blood:	n/a	n/a
21	STAT3	chr8:90995847-90997115	GM12878	blood:	n/a	chr8:90996295-90996306 chr8:90996473-90996485
22	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
23	STAT1	chr8:90996077-90996567	K562	blood:	n/a	chr8:90996295-90996306 chr8:90996473-90996485
24	EBF1	chr8:90996009-90996954	GM12878	blood:	n/a	chr8:90996029-90996038 chr8:90996027-90996038
25	REST	chr8:90996000-90996956	PFSK-1	brain:	n/a	n/a
26	SP1	chr8:90996102-90996774	GM12878	blood:	n/a	chr8:90996499-90996511 chr8:90996481-90996495 chr8:90996500-90996509 chr8:90996501-90996510 chr8:90996499-90996511
27	HDAC2	chr8:90996227-90996607	K562	blood:	n/a	n/a
28	MYC	chr8:90995736-90997170	K562	blood:	n/a	chr8:90996485-90996495
29	POLR2A	chr8:90996018-90997062	SK-N-MC	brain:	n/a	n/a
30	MXI1	chr8:90995894-90997109	HepG2	liver:	n/a	n/a
31	POLR2A	chr8:90996067-90997046	HEK293	kidney:	n/a	n/a
32	E2F6	chr8:90996233-90997049	A549	lung:	n/a	chr8:90996927-90996938
33	CTCF	chr8:90996195-90996681	HepG2	liver:	n/a	chr8:90996519-90996537 chr8:90996521-90996542 chr8:90996524-90996534 chr8:90996522-90996531 chr8:90996418-90996431 chr8:90996522-90996535 chr8:90996519-90996532 chr8:90996522-90996535 chr8:90996520-90996536
34	USF1	chr8:90996130-90996610	SK-N-SH	brain:	n/a	n/a
35	SIN3A	chr8:90996132-90997058	GM12878	blood:	n/a	n/a
36	MAX	chr8:90996022-90997203	HepG2	liver:	n/a	chr8:90996485-90996495
37	E2F6	chr8:90996245-90997028	K562	blood:	n/a	chr8:90996927-90996938
38	SIN3AK20	chr8:90996249-90996468	HepG2	liver:	n/a	n/a
39	RAD21	chr8:90996047-90997292	A549	lung:	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
40	SPI1	chr8:90996086-90996467	GM12891	blood:	n/a	n/a
41	POU2F2	chr8:90996178-90996480	GM12878	blood:	n/a	n/a
42	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
43	GABPA	chr8:90995963-90997178	SK-N-SH	brain:	n/a	n/a
44	ELK1	chr8:90995837-90997039	GM12878	blood:	n/a	n/a
45	ATF3	chr8:90996236-90997038	K562	blood:	n/a	chr8:90996465-90996474
46	NFIC	chr8:90995703-90997185	GM12878	blood:	n/a	chr8:90996069-90996097 chr8:90996129-90996145
47	FOS	chr8:90996171-90996964	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr8:90995748-90997177	MCF-7	breast:	n/a	n/a
49	PML	chr8:90996071-90997086	K562	blood:	n/a	n/a
50	MXI1	chr8:90995560-90997553	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:90995516..90998828-chr8:91010778..91014105,5	K562	blood:
2	chr8:90788699..90792573-chr8:90996217..90998925,4	MCF-7	breast:
3	chr8:90766360..90773428-chr8:90991217..91000142,22	MCF-7	breast:
4	chr8:90995093..90997814-chr8:91010770..91014611,5	MCF-7	breast:
5	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
6	chr8:90766719..90773256-chr8:90991979..90999179,19	MCF-7	breast:
7	chr8:90735826..90740064-chr8:90995306..90998250,3	MCF-7	breast:
8	chr8:90913353..90915903-chr8:90994626..90998419,6	K562	blood:
9	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
10	chr8:90912595..90916756-chr8:90994852..90998205,9	K562	blood:
11	chr8:90995523..90999017-chr8:91656346..91659175,4	K562	blood:
12	chr8:90913007..90918207-chr8:90995257..90997906,9	MCF-7	breast:
13	chr8:90914584..90915234-chr8:90995916..90996860,2	MCF-7	breast:
14	chr8:90790967..90797055-chr8:90994383..90998113,5	MCF-7	breast:
15	chr8:90993651..90998172-chr8:91012740..91014695,4	MCF-7	breast:
16	chr8:90769588..90771314-chr8:90995090..90996692,2	K562	blood:
17	chr8:90911185..90916499-chr8:90992960..90998209,20	MCF-7	breast:
18	chr8:90737113..90738638-chr8:90994961..90997124,2	K562	blood:

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

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10092098	0.81[CEU][hapmap]
rs10104321	0.81[CEU][hapmap]
rs10109454	0.82[EUR][1000 genomes]
rs1011682	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1011683	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1061302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1063045	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956375	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11782032	0.81[CEU][hapmap]
rs11784904	0.86[EUR][1000 genomes]
rs12171665	0.86[CEU][hapmap]
rs12549107	0.82[CEU][hapmap]
rs12550313	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12677527	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12679577	0.82[CEU][hapmap]
rs12680903	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13265193	0.91[CEU][hapmap]
rs13275276	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13278453	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13312842	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13312935	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16786	0.82[EUR][1000 genomes]
rs1800645	0.82[CEU][hapmap]
rs1805786	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805788	0.82[EUR][1000 genomes]
rs1805790	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805791	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805792	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805793	0.80[EUR][1000 genomes]
rs1805794	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805795	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805796	0.82[EUR][1000 genomes]
rs1805797	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805799	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]
rs1805800	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805801	0.81[EUR][1000 genomes]
rs1805802	0.81[EUR][1000 genomes]
rs1805803	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805804	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805808	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1805817	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805818	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805833	0.80[EUR][1000 genomes]
rs1805841	0.80[EUR][1000 genomes]
rs1805870	0.85[CEU][hapmap]
rs1805876	0.81[CEU][hapmap]
rs2072656	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2073635	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074593	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2074596	0.90[CEU][hapmap]
rs2091887	0.82[CEU][hapmap]
rs2097825	0.95[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2107465	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs2142093	0.91[CEU][hapmap];0.83[CHB][hapmap]
rs2142094	0.91[CEU][hapmap];0.83[CHB][hapmap]
rs2234744	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267543	0.90[CEU][hapmap]
rs2280780	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2293774	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293775	0.80[EUR][1000 genomes]
rs2308962	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2339025	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3026265	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3026276	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34394839	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3736639	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4961166	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4961167	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58579435	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61427172	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470523	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470524	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470668	0.81[CEU][hapmap]
rs6470671	0.82[CEU][hapmap]
rs6470713	0.81[CEU][hapmap]
rs6985793	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs6987873	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6990969	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6991811	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993054	0.95[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6994202	0.81[CEU][hapmap]
rs7006322	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7010210	0.82[EUR][1000 genomes]
rs7011299	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7012846	0.91[CEU][hapmap]
rs7018118	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs709816	0.82[EUR][1000 genomes]
rs71528733	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs741777	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs741778	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs7459577	0.81[CEU][hapmap]
rs7459846	0.86[CEU][hapmap]
rs7461859	0.81[CEU][hapmap]
rs7463278	0.81[CEU][hapmap]
rs7463645	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7815279	0.81[CEU][hapmap]
rs7816839	0.90[CEU][hapmap]
rs7821408	0.81[CEU][hapmap]
rs7822272	0.95[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7822950	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7829246	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832009	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs867185	0.82[EUR][1000 genomes]
rs926092	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9649958	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs9650096	0.87[EUR][1000 genomes]
rs9650098	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9792335	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1805844	NBN	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90991600-90997200	Active TSS	GM12878-XiMat	blood
2	chr8:90993200-90997200	Active TSS	Stomach Smooth Muscle	stomach
3	chr8:90993400-90997200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr8:90993600-90997000	Active TSS	Colon Smooth Muscle	Colon
5	chr8:90993800-90997200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:90993800-90997600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:90994000-90997000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:90994000-90997000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:90994000-90997000	Active TSS	Psoas Muscle	Psoas
10	chr8:90994000-90997000	Active TSS	HSMMtube	muscle
11	chr8:90994200-90996400	Active TSS	Right Atrium	heart
12	chr8:90994200-90997000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:90994400-90997000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:90994600-90997000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:90994600-90997000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:90994600-90997000	Active TSS	Brain Anterior Caudate	brain
17	chr8:90994600-90997000	Active TSS	Rectal Smooth Muscle	rectum
18	chr8:90994600-90997000	Active TSS	HSMM	muscle
19	chr8:90994600-90997200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr8:90994600-90997200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr8:90994600-90997600	Active TSS	Brain Substantia Nigra	brain
22	chr8:90994800-90997000	Active TSS	A549	lung
23	chr8:90994800-90997200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr8:90994800-90997200	Active TSS	Muscle Satellite Cultured Cells	--
25	chr8:90994800-90997200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:90994800-90997200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:90994800-90997400	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr8:90994800-90997400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:90994800-90997400	Active TSS	K562	blood
30	chr8:90995000-90997000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:90995000-90997000	Active TSS	Aorta	Aorta
32	chr8:90995000-90997000	Active TSS	HMEC	breast
33	chr8:90995000-90997200	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr8:90995200-90997000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:90995200-90997000	Active TSS	Hela-S3	cervix
36	chr8:90995200-90997000	Active TSS	NHLF	lung
37	chr8:90995200-90997200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr8:90995200-90997200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:90995200-90997200	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr8:90995200-90997200	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr8:90995200-90997200	Active TSS	NH-A	brain
42	chr8:90995200-90997200	Active TSS	NHDF-Ad	bronchial
43	chr8:90995400-90996800	Active TSS	Fetal Lung	lung
44	chr8:90995400-90997000	Active TSS	Primary B cells from peripheral blood	blood
45	chr8:90995400-90997000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:90995400-90997000	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr8:90995400-90997000	Active TSS	Colonic Mucosa	Colon
48	chr8:90995400-90997000	Active TSS	Duodenum Mucosa	Duodenum
49	chr8:90995400-90997000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr8:90995400-90997000	Active TSS	Fetal Intestine Large	intestine

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