Variant report

Variant	rs16950065
Chromosome Location	chr12:120755363-120755364
allele	G/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	CTCF	chr12:120755051-120755457	Gliobla	brain:	n/a	chr12:120755168-120755181 chr12:120755351-120755367 chr12:120755357-120755364
2	MAX	chr12:120754761-120755893	K562	blood:	n/a	chr12:120755594-120755603 chr12:120755501-120755511 chr12:120755619-120755632 chr12:120755592-120755605 chr12:120755501-120755510 chr12:120755619-120755632 chr12:120755620-120755631 chr12:120755500-120755510 chr12:120755621-120755631 chr12:120755500-120755511 chr12:120755620-120755631 chr12:120755620-120755630 chr12:120755620-120755631 chr12:120755501-120755510 chr12:120755621-120755630 chr12:120755624-120755632 chr12:120755593-120755604 chr12:120755499-120755512 chr12:120755499-120755512 chr12:120755500-120755511 chr12:120755589-120755608 chr12:120755621-120755631 chr12:120755502-120755509 chr12:120755619-120755632 chr12:120755594-120755603 chr12:120755620-120755630 chr12:120755593-120755604 chr12:120755500-120755511 chr12:120755619-120755632
3	REST	chr12:120754546-120755813	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr12:120755260-120755410	AG09309	skin:	n/a	chr12:120755351-120755367 chr12:120755357-120755364
5	RFX5	chr12:120754823-120755868	Hela-S3	cervix:	n/a	n/a
6	SIN3AK20	chr12:120755052-120755719	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:120755058-120755526	H1-hESC	embryonic stem cell:	n/a	chr12:120755168-120755181 chr12:120755351-120755367 chr12:120755357-120755364
8	MAZ	chr12:120755092-120755695	Hela-S3	cervix:	n/a	chr12:120755594-120755603 chr12:120755501-120755511 chr12:120755619-120755632 chr12:120755592-120755605 chr12:120755501-120755510 chr12:120755619-120755632 chr12:120755620-120755631 chr12:120755500-120755510 chr12:120755621-120755631 chr12:120755500-120755511 chr12:120755620-120755631 chr12:120755620-120755630 chr12:120755620-120755631 chr12:120755501-120755510 chr12:120755621-120755630 chr12:120755624-120755632 chr12:120755593-120755604 chr12:120755499-120755512 chr12:120755499-120755512 chr12:120755500-120755511 chr12:120755589-120755608 chr12:120755621-120755631 chr12:120755502-120755509 chr12:120755619-120755632 chr12:120755594-120755603 chr12:120755620-120755630 chr12:120755593-120755604 chr12:120755500-120755511 chr12:120755619-120755632
9	CTCF	chr12:120755060-120755478	T-47D	breast:	n/a	chr12:120755168-120755181 chr12:120755351-120755367 chr12:120755357-120755364
10	TAF1	chr12:120754923-120755776	MCF-7	breast:	n/a	n/a
11	SP1	chr12:120754885-120755880	A549	lung:	n/a	chr12:120755420-120755429 chr12:120755419-120755429 chr12:120755420-120755429 chr12:120755419-120755429 chr12:120755554-120755564 chr12:120755418-120755430 chr12:120755415-120755429 chr12:120755418-120755430 chr12:120755419-120755428
12	ATF3	chr12:120755166-120755831	GM12878	blood:	n/a	chr12:120755594-120755603 chr12:120755655-120755666 chr12:120755657-120755665 chr12:120755655-120755666
13	NFIC	chr12:120755104-120755816	HepG2	liver:	n/a	n/a
14	TAF1	chr12:120755080-120755538	GM12891	blood:	n/a	n/a
15	NFYA	chr12:120755071-120755831	Hela-S3	cervix:	n/a	n/a
16	FOXM1	chr12:120754950-120755538	GM12878	blood:	n/a	n/a
17	RCOR1	chr12:120754776-120755825	K562	blood:	n/a	n/a
18	PML	chr12:120754686-120755616	GM12878	blood:	n/a	n/a
19	REST	chr12:120755123-120755548	HepG2	liver:	n/a	n/a
20	SP1	chr12:120755191-120755830	H1-hESC	embryonic stem cell:	n/a	chr12:120755420-120755429 chr12:120755419-120755429 chr12:120755420-120755429 chr12:120755419-120755429 chr12:120755554-120755564 chr12:120755418-120755430 chr12:120755415-120755429 chr12:120755418-120755430 chr12:120755419-120755428
21	CHD2	chr12:120755025-120755780	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr12:120755350-120755851	A549	lung:	n/a	n/a
23	USF1	chr12:120755047-120755930	ECC-1	luminal epithelium:	n/a	chr12:120755592-120755605 chr12:120755595-120755604 chr12:120755594-120755603 chr12:120755594-120755603 chr12:120755588-120755609
24	USF1	chr12:120755005-120755905	H1-hESC	embryonic stem cell:	n/a	chr12:120755592-120755605 chr12:120755595-120755604 chr12:120755594-120755603 chr12:120755594-120755603 chr12:120755588-120755609
25	MAX	chr12:120754729-120755870	NB4	blood:	n/a	chr12:120755594-120755603 chr12:120755501-120755511 chr12:120755619-120755632 chr12:120755592-120755605 chr12:120755501-120755510 chr12:120755619-120755632 chr12:120755620-120755631 chr12:120755500-120755510 chr12:120755621-120755631 chr12:120755500-120755511 chr12:120755620-120755631 chr12:120755620-120755630 chr12:120755620-120755631 chr12:120755501-120755510 chr12:120755621-120755630 chr12:120755624-120755632 chr12:120755593-120755604 chr12:120755499-120755512 chr12:120755499-120755512 chr12:120755500-120755511 chr12:120755589-120755608 chr12:120755621-120755631 chr12:120755502-120755509 chr12:120755619-120755632 chr12:120755594-120755603 chr12:120755620-120755630 chr12:120755593-120755604 chr12:120755500-120755511 chr12:120755619-120755632
26	CTCF	chr12:120755056-120755475	GM19238	blood:	n/a	chr12:120755168-120755181 chr12:120755351-120755367 chr12:120755357-120755364
27	CTCF	chr12:120755062-120755441	ProgFib	skin:	n/a	chr12:120755168-120755181 chr12:120755351-120755367 chr12:120755357-120755364
28	PAX5	chr12:120755241-120755483	GM12878	blood:	n/a	n/a
29	UBTF	chr12:120755080-120755431	K562	blood:	n/a	n/a
30	USF1	chr12:120755263-120755883	A549	lung:	n/a	chr12:120755592-120755605 chr12:120755595-120755604 chr12:120755594-120755603 chr12:120755594-120755603 chr12:120755588-120755609
31	USF1	chr12:120755039-120756089	HCT-116	colon:	n/a	chr12:120755592-120755605 chr12:120755595-120755604 chr12:120755594-120755603 chr12:120755594-120755603 chr12:120755588-120755609
32	RUNX3	chr12:120754991-120755734	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:120754980-120755572	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr12:120755356-120755959	A549	lung:	n/a	n/a
35	CTCF	chr12:120755093-120755470	NHEK	skin:	n/a	chr12:120755168-120755181 chr12:120755351-120755367 chr12:120755357-120755364
36	NFIC	chr12:120754931-120755846	GM12878	blood:	n/a	n/a
37	FOS	chr12:120755316-120755781	MCF10A-Er-Src	breast:	n/a	chr12:120755656-120755665
38	TAF1	chr12:120755035-120755595	K562	blood:	n/a	n/a
39	POLR2A	chr12:120755064-120755724	MCF10A-Er-Src	breast:	n/a	n/a
40	ELF1	chr12:120755086-120755861	A549	lung:	n/a	chr12:120755537-120755549
41	POLR2A	chr12:120755005-120755600	PANC-1	pancreas:	n/a	n/a
42	NRF1	chr12:120755209-120755836	Hela-S3	cervix:	n/a	chr12:120755382-120755393 chr12:120755379-120755393 chr12:120755382-120755393 chr12:120755384-120755393 chr12:120755382-120755396
43	PAX5	chr12:120754595-120755673	GM12878	blood:	n/a	n/a
44	POLR2A	chr12:120755079-120755483	U87	brain:	n/a	n/a
45	CTCF	chr12:120755280-120755430	GM12866	blood:	n/a	chr12:120755351-120755367 chr12:120755357-120755364
46	CEBPB	chr12:120755040-120755880	MCF-7	breast:	n/a	n/a
47	ZC3H11A	chr12:120755046-120755413	K562	blood:	n/a	n/a
48	WRNIP1	chr12:120755161-120755675	GM12878	blood:	n/a	n/a
49	ELF1	chr12:120755071-120755745	HepG2	liver:	n/a	chr12:120755537-120755549
50	USF1	chr12:120755020-120755922	K562	blood:	n/a	chr12:120755592-120755605 chr12:120755595-120755604 chr12:120755594-120755603 chr12:120755594-120755603 chr12:120755588-120755609

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120755328-120755378	PANC-1	pancreas:	n/a
2	chr12:120755328-120755378	ECC-1	luminal epithelium:	n/a
3	chr12:120755328-120755378	PFSK-1	brain:	n/a
4	chr12:120755328-120755378	HRCEpiC	kidney:	n/a
5	chr12:120755328-120755378	GM06990	blood:	n/a
6	chr12:120755328-120755378	SKMC	muscle:	n/a
7	chr12:120755328-120755378	AG10803	skin:	n/a
8	chr12:120755328-120755378	HepG2	liver:	n/a
9	chr12:120755328-120755378	MCF-7	breast:	n/a
10	chr12:120755328-120755378	HCT-116	colon:	n/a
11	chr12:120755328-120755378	GM12891	blood:	n/a
12	chr12:120755328-120755378	H1-hESC	embryonic stem cell:	embryo
13	chr12:120755328-120755378	IMR90	lung:	fetal
14	chr12:120755328-120755378	Hela-S3	cervix:	n/a
15	chr12:120755328-120755378	BE2_C	brain:	n/a
16	chr12:120755328-120755378	Hepatocyte	liver:	n/a
17	chr12:120755328-120755378	SK-N-SH_RA	brain:	n/a
18	chr12:120755328-120755378	MCF10A-Er-Src	breast:	n/a
19	chr12:120755328-120755378	HRE	kidney:	n/a
20	chr12:120755328-120755378	BJ	skin:	n/a
21	chr12:120755328-120755378	Caco-2	colon:	n/a
22	chr12:120755328-120755378	NB4	blood:	n/a
23	chr12:120755328-120755378	GM12878	blood:	n/a
24	chr12:120755328-120755378	AG04450	lung:	fetal
25	chr12:120755328-120755378	SAEC	small airway:	n/a
26	chr12:120755328-120755378	HUVEC	blood vessel:	n/a
27	chr12:120755328-120755378	HPAEpiC	pulmonary alveolar:	n/a
28	chr12:120755328-120755378	HRPEpiC	eye:	n/a
29	chr12:120755328-120755378	AG09309	skin:	n/a
30	chr12:120755328-120755378	HCF	heart:	n/a
31	chr12:120755328-120755378	SK-N-MC	brain:	n/a
32	chr12:120755328-120755378	HEK293	kidney:	embryo
33	chr12:120755328-120755378	HL-60	blood:	n/a
34	chr12:120755328-120755378	HEEpiC	esophagus:	n/a
35	chr12:120755328-120755378	NT2-D1	testis:	n/a
36	chr12:120755328-120755378	AG09319	gingival:	n/a
37	chr12:120755328-120755378	A549	lung:	n/a
38	chr12:120755328-120755378	LNCaP	prostate:	n/a
39	chr12:120755328-120755378	U87	brain:	n/a
40	chr12:120755328-120755378	SK-N-SH	brain:	n/a
41	chr12:120755328-120755378	NH-A	brain:	n/a
42	chr12:120755328-120755378	CMK	blood:	n/a
43	chr12:120755328-120755378	T-47D	breast:	n/a
44	chr12:120755328-120755378	Jurkat	blood:	n/a
45	chr12:120755328-120755378	HAEpiC	amniotic membrane:	n/a
46	chr12:120755328-120755378	K562	blood:	n/a
47	chr12:120755328-120755378	HIPEpiC	eye:	n/a
48	chr12:120755328-120755378	ovcar-3	ovarian:	n/a
49	chr12:120755328-120755378	AoSMC	blood vessel:	n/a
50	chr12:120755328-120755378	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120753412..120756124-chr12:120906099..120908096,3	MCF-7	breast:
2	chr12:120727833..120732436-chr12:120750797..120758239,21	K562	blood:
3	chr12:120753886..120756073-chr12:120770062..120773439,3	MCF-7	breast:
4	chr12:120754254..120757293-chr12:120758495..120761396,4	MCF-7	breast:
5	chr12:120636994..120639077-chr12:120755356..120757449,2	K562	blood:
6	chr12:120727172..120733111-chr12:120749358..120767260,47	MCF-7	breast:
7	chr12:120636267..120640260-chr12:120755327..120757196,3	K562	blood:
8	chr12:120733219..120735445-chr12:120753704..120755602,2	K562	blood:
9	chr12:120729927..120730441-chr12:120755238..120755740,2	MCF-7	breast:
10	chr12:120738808..120741080-chr12:120753926..120756458,2	MCF-7	breast:
11	chr12:120737630..120743237-chr12:120750628..120756565,17	MCF-7	breast:
12	chr12:120754887..120756643-chr20:52209490..52211938,2	MCF-7	breast:
13	chr12:120754074..120755627-chr12:120881986..120884098,2	K562	blood:
14	chr12:120753264..120755588-chr12:120884404..120886058,2	K562	blood:
15	chr12:120732594..120735445-chr12:120753350..120755602,3	K562	blood:
16	chr12:120753865..120756750-chr12:120970673..120972882,3	MCF-7	breast:
17	chr12:120666210..120668023-chr12:120753232..120755603,3	K562	blood:
18	chr12:120665847..120666930-chr12:120754843..120755708,4	MCF-7	breast:
19	chr12:120743334..120746581-chr12:120753130..120756677,4	K562	blood:
20	chr12:120754034..120756956-chr12:120933822..120935754,3	MCF-7	breast:
21	chr12:120553391..120555676-chr12:120754149..120756441,2	K562	blood:
22	chr12:120741905..120744890-chr12:120753500..120756335,2	MCF-7	breast:
23	chr12:120754063..120756427-chr12:120932274..120934735,3	MCF-7	breast:
24	chr12:120727224..120732436-chr12:120750439..120758135,29	K562	blood:
25	chr10:94350707..94351494-chr12:120754740..120755513,2	Hela-S3	cervix:
26	chr12:120749972..120753609-chr12:120753638..120755444,3	MCF-7	breast:
27	chr12:120739601..120740134-chr12:120754927..120755726,2	K562	blood:
28	chr12:120753311..120755583-chr12:120775360..120777758,2	K562	blood:
29	chr12:120663204..120669945-chr12:120752406..120756905,6	K562	blood:

Variant related genes	Relation type
RNU6-1088P	TF binding region
RNU6-1088P	CpG island
ENSG00000089163	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000252659	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1151845	1.00[YRI][hapmap]
rs1167706	1.00[YRI][hapmap]
rs12299143	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12423303	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12424233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12424555	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425936	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12426900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12427069	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12427095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16950044	1.00[CEU][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16950047	0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16950058	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];1.00[ASN][1000 genomes]
rs16950061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950101	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1710142	1.00[YRI][hapmap]
rs1710146	1.00[YRI][hapmap]
rs2238158	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2238161	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2464296	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2522140	0.88[EUR][1000 genomes]
rs2701643	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905543	0.80[EUR][1000 genomes]
rs3847967	1.00[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs3847968	0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3847969	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3847971	1.00[YRI][hapmap]
rs3898618	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4767899	1.00[YRI][hapmap]
rs542407	1.00[YRI][hapmap]
rs56237802	0.86[ASN][1000 genomes]
rs5634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56733641	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57141366	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57279831	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57384430	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58232894	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59447311	0.92[EUR][1000 genomes]
rs59768240	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60176939	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs606443	1.00[YRI][hapmap]
rs60731947	0.93[EUR][1000 genomes]
rs61140476	0.83[EUR][1000 genomes]
rs61592165	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61665022	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61748115	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667913	1.00[YRI][hapmap]
rs671566	1.00[YRI][hapmap]
rs787818	1.00[YRI][hapmap]
rs787828	1.00[YRI][hapmap]
rs7960401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977875	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9657936	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];1.00[ASN][1000 genomes]
rs9657937	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9657941	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];1.00[ASN][1000 genomes]
rs9657942	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];1.00[ASN][1000 genomes]
rs9657948	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16950065	SIRT4	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120754400-120755800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:120754400-120755800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr12:120754400-120756000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:120754600-120755400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
5	chr12:120754600-120755400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr12:120754600-120755400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:120754600-120755400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:120754600-120755400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:120754600-120755400	Flanking Active TSS	Placenta	Placenta
10	chr12:120754600-120755400	Active TSS	Gastric	stomach
11	chr12:120754600-120755400	Active TSS	Ovary	ovary
12	chr12:120754600-120755400	Active TSS	Pancreas	Pancrea
13	chr12:120754600-120755400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr12:120754600-120755400	Flanking Active TSS	Stomach Mucosa	stomach
15	chr12:120754600-120755600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr12:120754600-120755800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:120754600-120755800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:120754600-120755800	Active TSS	Psoas Muscle	Psoas
19	chr12:120754600-120755800	Active TSS	Right Atrium	heart
20	chr12:120754600-120755800	Active TSS	HSMMtube	muscle
21	chr12:120754600-120756000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr12:120754600-120756000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr12:120754600-120756000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr12:120754600-120756000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr12:120754600-120756000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:120754800-120755400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:120754800-120755400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:120754800-120755400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:120754800-120755400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr12:120754800-120755400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr12:120754800-120755400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:120754800-120755400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:120754800-120755400	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr12:120754800-120755400	Active TSS	Small Intestine	intestine
35	chr12:120754800-120755400	Flanking Active TSS	Thymus	Thymus
36	chr12:120754800-120755400	Active TSS	Spleen	Spleen
37	chr12:120754800-120755800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr12:120754800-120755800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:120754800-120755800	Flanking Active TSS	Fetal Thymus	thymus
40	chr12:120754800-120756000	Active TSS	Fetal Brain Female	brain
41	chr12:120754800-120756200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr12:120755000-120755400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:120755000-120755400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr12:120755000-120755400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr12:120755000-120755400	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr12:120755000-120755400	Active TSS	Aorta	Aorta
47	chr12:120755000-120755400	Active TSS	Lung	lung
48	chr12:120755000-120755400	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr12:120755000-120755600	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr12:120755000-120755600	Active TSS	Primary T helper cells PMA-I stimulated	--

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