Variant report

Variant	rs3847968
Chromosome Location	chr12:120730869-120730870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:569)
CpG islands
(count:0)
Chromatin interactive
region (count:174)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:569 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120729078-120731508	K562	blood:	n/a	n/a
2	RELA	chr12:120730428-120731330	GM12878	blood:	n/a	n/a
3	TAF7	chr12:120728675-120731670	H1-hESC	embryonic stem cell:	n/a	n/a
4	ELK4	chr12:120730515-120730982	Hela-S3	cervix:	n/a	n/a
5	NFIC	chr12:120730638-120731269	ECC-1	luminal epithelium:	n/a	n/a
6	JUND	chr12:120728718-120731221	A549	lung:	n/a	chr12:120729940-120729949 chr12:120729726-120729735
7	ETS1	chr12:120730430-120731233	K562	blood:	n/a	n/a
8	POLR2A	chr12:120728692-120731184	GM12891	blood:	n/a	n/a
9	REST	chr12:120730682-120731179	HepG2	liver:	n/a	n/a
10	IRF4	chr12:120730340-120731297	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:120730461-120731208	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr12:120730456-120731357	HL-60	blood:	n/a	n/a
13	SP1	chr12:120730259-120731353	K562	blood:	n/a	n/a
14	STAT5A	chr12:120730207-120731317	K562	blood:	n/a	n/a
15	STAT3	chr12:120730649-120731231	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr12:120728616-120731421	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr12:120728550-120731470	Hela-S3	cervix:	n/a	n/a
18	SIN3AK20	chr12:120730240-120731417	A549	lung:	n/a	n/a
19	ELF1	chr12:120728998-120731354	GM12878	blood:	n/a	n/a
20	STAT3	chr12:120730474-120731460	Hela-S3	cervix:	n/a	n/a
21	EP300	chr12:120730573-120731254	HepG2	liver:	n/a	n/a
22	TAF1	chr12:120730693-120731177	GM12892	blood:	n/a	n/a
23	JUND	chr12:120730537-120731314	K562	blood:	n/a	n/a
24	RCOR1	chr12:120730548-120731253	Hela-S3	cervix:	n/a	n/a
25	SETDB1	chr12:120730638-120731238	U2OS	brain:	n/a	n/a
26	POLR2A	chr12:120729002-120731295	GM12878	blood:	n/a	n/a
27	YY1	chr12:120730426-120731200	GM12892	blood:	n/a	n/a
28	ELK1	chr12:120730629-120731286	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr12:120730819-120731076	HepG2	liver:	n/a	n/a
30	EGR1	chr12:120730585-120731272	H1-hESC	embryonic stem cell:	n/a	chr12:120731176-120731187 chr12:120731177-120731187 chr12:120731176-120731187
31	POLR2A	chr12:120729131-120731229	Hela-S3	cervix:	n/a	n/a
32	SIN3AK20	chr12:120730495-120731168	K562	blood:	n/a	n/a
33	YY1	chr12:120730556-120731216	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:120730364-120731235	HepG2	liver:	n/a	n/a
35	TRIM28	chr12:120730610-120731191	K562	blood:	n/a	n/a
36	ETS1	chr12:120730621-120731219	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:120728761-120731370	HUVEC	blood vessel:	n/a	n/a
38	JUND	chr12:120730509-120731270	A549	lung:	n/a	n/a
39	POLR2A	chr12:120728495-120731345	PANC-1	pancreas:	n/a	n/a
40	TAF1	chr12:120729412-120731190	H1-hESC	embryonic stem cell:	n/a	n/a
41	GATA3	chr12:120730385-120731352	SK-N-SH	brain:	n/a	n/a
42	TCF12	chr12:120730673-120731261	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr12:120728599-120731277	GM12878	blood:	n/a	n/a
44	GABPA	chr12:120730299-120731293	MCF-7	breast:	n/a	n/a
45	SRF	chr12:120730410-120731125	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:120728418-120731236	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr12:120728613-120731262	GM12891	blood:	n/a	n/a
48	STAT3	chr12:120730697-120731061	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr12:120728334-120731458	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr12:120730753-120731580	A549	lung:	n/a	n/a

No data

(count:174 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr1:44508536..44511215-chr12:120729558..120732284,2	MCF-7	breast:
2	chr12:118814110..118815934-chr12:120730037..120732286,2	MCF-7	breast:
3	chr12:120424138..120428272-chr12:120728453..120731316,5	K562	blood:
4	chr12:120529252..120531739-chr12:120728322..120731564,3	MCF-7	breast:
5	chr12:120685626..120692224-chr12:120727115..120732105,16	K562	blood:
6	chr12:120729387..120731467-chr6:13710748..13713061,2	MCF-7	breast:
7	chr12:120729209..120731364-chr8:145751583..145753528,2	MCF-7	breast:
8	chr12:120730654..120731269-chr17:74733020..74733707,2	HCT-116	colon:
9	chr12:120729741..120733145-chr17:56707476..56710505,4	MCF-7	breast:
10	chr12:120606014..120608808-chr12:120727801..120732027,4	MCF-7	breast:
11	chr12:52446211..52447447-chr12:120730085..120730978,4	Hela-S3	cervix:
12	chr12:120646880..120656528-chr12:120726067..120732546,19	K562	blood:
13	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
14	chr12:120729175..120732150-chr15:52245837..52248186,2	MCF-7	breast:
15	chr12:120730578..120731103-chr15:40732693..40733606,2	Hela-S3	cervix:
16	chr12:120730544..120731623-chrX:153626419..153627097,3	Hela-S3	cervix:
17	chr12:120728477..120731826-chr12:120874371..120876435,3	K562	blood:
18	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
19	chr12:120727828..120730967-chr20:60717527..60719045,4	K562	blood:
20	chr12:120728080..120732301-chr12:120874297..120877936,6	K562	blood:
21	chr12:120728049..120731590-chr12:120965249..120968541,5	K562	blood:
22	chr11:47788311..47789286-chr12:120730312..120731196,2	Hela-S3	cervix:
23	chr12:57633078..57634752-chr12:120728472..120731115,2	MCF-7	breast:
24	chr12:120729285..120730879-chr19:12893496..12896191,2	MCF-7	breast:
25	chr12:120730583..120731458-chr17:79633579..79634294,2	Hela-S3	cervix:
26	chr12:120730738..120731324-chr12:122516279..122516830,2	HCT-116	colon:
27	chr12:120729656..120731350-chr19:54704003..54705682,2	MCF-7	breast:
28	chr12:120727224..120732436-chr12:120750439..120758135,29	K562	blood:
29	chr12:120729365..120731964-chr8:126101720..126104275,2	MCF-7	breast:
30	chr12:120697928..120706288-chr12:120725352..120732223,30	K562	blood:
31	chr12:120729038..120732035-chr12:120899185..120901880,2	MCF-7	breast:
32	chr12:120727971..120731038-chr20:60717454..60720528,7	MCF-7	breast:
33	chr12:120728393..120731711-chr12:120805239..120807118,3	MCF-7	breast:
34	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
35	chr12:120728864..120731306-chr17:57914822..57917765,2	MCF-7	breast:
36	chr11:65657578..65659583-chr12:120728945..120731288,2	K562	blood:
37	chr12:120551667..120557354-chr12:120726466..120731431,13	MCF-7	breast:
38	chr12:120730734..120731380-chr20:43991498..43992335,2	NB4	blood:
39	chr12:120685214..120692467-chr12:120727115..120732311,17	K562	blood:
40	chr12:120730616..120731276-chr2:98281104..98281615,2	NB4	blood:
41	chr12:120728604..120731235-chr17:56620505..56622780,2	MCF-7	breast:
42	chr12:120730650..120731213-chr14:104033295..104033814,2	Hela-S3	cervix:
43	chr11:67120500..67121333-chr12:120730303..120731275,2	Hela-S3	cervix:
44	chr12:120728287..120730909-chr5:140026516..140029034,2	MCF-7	breast:
45	chr12:120729256..120731052-chr5:177027034..177028925,2	MCF-7	breast:
46	chr11:62607698..62610327-chr12:120727404..120731350,4	MCF-7	breast:
47	chr1:16839434..16842032-chr12:120728753..120731568,4	MCF-7	breast:
48	chr12:120729883..120732315-chr2:43822185..43824876,2	MCF-7	breast:
49	chr1:207205837..207208617-chr12:120729245..120731322,2	MCF-7	breast:
50	chr12:120727828..120731122-chr20:60717527..60720547,6	K562	blood:

No data

Variant related genes	Relation type
RNU4-2	TF binding region
ENSG00000183735	Chromatin interaction
ENSG00000177764	Chromatin interaction
ENSG00000139116	Chromatin interaction
ENSG00000111725	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000092931	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000253459	Chromatin interaction
ENSG00000272160	Chromatin interaction
ENSG00000186716	Chromatin interaction
ENSG00000113141	Chromatin interaction
ENSG00000185633	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000187266	Chromatin interaction
ENSG00000185298	Chromatin interaction
ENSG00000254402	Chromatin interaction
ENSG00000267580	Chromatin interaction
ENSG00000261373	Chromatin interaction
ENSG00000213137	Chromatin interaction
ENSG00000117906	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000170836	Chromatin interaction
ENSG00000112658	Chromatin interaction
ENSG00000163660	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000164402	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000165501	Chromatin interaction
ENSG00000240925	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000252974	Chromatin interaction
ENSG00000008513	Chromatin interaction
ENSG00000181013	Chromatin interaction
ENSG00000182795	Chromatin interaction
ENSG00000184584	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000107147	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000143942	Chromatin interaction
ENSG00000170890	Chromatin interaction
ENSG00000265455	Chromatin interaction
ENSG00000140740	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000248636	Chromatin interaction
ENSG00000075399	Chromatin interaction
ENSG00000170889	Chromatin interaction
ENSG00000157837	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000179818	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000169564	Chromatin interaction
ENSG00000222750	Chromatin interaction
ENSG00000174586	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000184402	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000236794	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000171421	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000011021	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000268230	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000027847	Chromatin interaction
ENSG00000127838	Chromatin interaction
ENSG00000188693	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000166477	Chromatin interaction
ENSG00000130707	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000204070	Chromatin interaction
ENSG00000131495	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000230415	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000113300	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000149923	Chromatin interaction
ENSG00000252659	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000160087	Chromatin interaction
ENSG00000266704	Chromatin interaction
ENSG00000264052	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000201806	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000177000	Chromatin interaction
ENSG00000197763	Chromatin interaction
ENSG00000170906	Chromatin interaction
ENSG00000244291	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000205542	Chromatin interaction
ENSG00000085760	Chromatin interaction
ENSG00000140320	Chromatin interaction
ENSG00000001630	Chromatin interaction
ENSG00000135097	Chromatin interaction
ENSG00000267727	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000256569	Chromatin interaction
ENSG00000261135	Chromatin interaction
ENSG00000182648	Chromatin interaction
ENSG00000231119	Chromatin interaction
ENSG00000166710	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000141378	Chromatin interaction
ENSG00000102780	Chromatin interaction
ENSG00000136492	Chromatin interaction
ENSG00000229474	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000166965	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000272173	Chromatin interaction
ENSG00000100243	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000145494	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000101182	Chromatin interaction
ENSG00000230615	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000204237	Chromatin interaction
ENSG00000168488	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000161547	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000213741	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000170909	Chromatin interaction
ENSG00000105982	Chromatin interaction
ENSG00000271843	Chromatin interaction
ENSG00000201184	Chromatin interaction
ENSG00000137073	Chromatin interaction
ENSG00000109920	Chromatin interaction
ENSG00000239881	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000158486	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000267212	Chromatin interaction
ENSG00000082701	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000179104	Chromatin interaction
ENSG00000247315	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000115970	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000254806	Chromatin interaction
ENSG00000269054	Chromatin interaction
ENSG00000161016	Chromatin interaction
ENSG00000132623	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1151826	1.00[CHB][hapmap]
rs1151828	1.00[CHB][hapmap]
rs1151835	1.00[CHB][hapmap]
rs1151836	1.00[CHB][hapmap]
rs1179386	1.00[CHB][hapmap]
rs12299143	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12423303	0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs12424233	0.82[CEU][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs12424555	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12425936	0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12426368	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12426900	0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12427069	0.88[EUR][1000 genomes]
rs12427095	0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs12580868	1.00[CHB][hapmap]
rs12582981	1.00[CHB][hapmap]
rs1634820	1.00[CHB][hapmap]
rs16950044	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16950047	0.89[CHB][hapmap];0.89[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16950058	0.82[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16950061	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16950065	0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16950101	0.95[EUR][1000 genomes]
rs2238158	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2238161	0.95[EUR][1000 genomes]
rs2239207	1.00[CHB][hapmap]
rs2283363	1.00[CHB][hapmap]
rs2464296	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2522140	0.83[EUR][1000 genomes]
rs2701641	1.00[CHB][hapmap]
rs2701643	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2905543	0.85[EUR][1000 genomes]
rs3847967	0.82[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3847969	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3898618	0.95[EUR][1000 genomes]
rs4767884	1.00[YRI][hapmap]
rs5634	0.82[CEU][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56733641	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57141366	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57279831	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57384430	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58232894	0.86[EUR][1000 genomes]
rs59447311	0.88[EUR][1000 genomes]
rs59768240	0.95[EUR][1000 genomes]
rs60176939	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60731947	0.88[EUR][1000 genomes]
rs61140476	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61592165	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61665022	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61748115	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6490286	1.00[YRI][hapmap]
rs7311566	0.82[JPT][hapmap]
rs7960401	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7977875	0.86[EUR][1000 genomes]
rs7978656	1.00[YRI][hapmap]
rs9657936	0.82[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9657937	0.82[AMR][1000 genomes]
rs9657941	0.82[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9657942	0.82[CEU][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9657948	0.87[AMR][1000 genomes];0.95[EUR][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	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
7	esv1799498	chr12:120725939-120745740	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	429 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3847968	SIRT4	cis	multi-tissue	Pritchard

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120728400-120731000	Active TSS	Pancreas	Pancrea
2	chr12:120728400-120731200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:120728400-120731400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:120728400-120731400	Active TSS	Rectal Smooth Muscle	rectum
5	chr12:120728600-120731000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:120728600-120731000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:120728600-120731000	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr12:120728600-120731200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:120728600-120731200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:120728600-120731200	Active TSS	Colon Smooth Muscle	Colon
11	chr12:120728600-120731400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr12:120728600-120731400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:120728600-120731400	Active TSS	Colonic Mucosa	Colon
14	chr12:120728600-120731400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:120728600-120731400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:120728600-120731600	Active TSS	Brain Substantia Nigra	brain
17	chr12:120728800-120731000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:120728800-120731000	Active TSS	Left Ventricle	heart
19	chr12:120728800-120731200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr12:120728800-120731200	Active TSS	Right Ventricle	heart
21	chr12:120728800-120731600	Active TSS	Psoas Muscle	Psoas
22	chr12:120729000-120731000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:120729000-120731000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:120729000-120731000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr12:120729000-120731000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:120729000-120731000	Active TSS	NHEK	skin
27	chr12:120729000-120731200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:120729000-120731200	Active TSS	Duodenum Mucosa	Duodenum
29	chr12:120729000-120731200	Active TSS	HepG2	liver
30	chr12:120729000-120731400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:120729000-120731400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:120729000-120731400	Flanking Active TSS	Fetal Thymus	thymus
33	chr12:120729000-120731600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:120729000-120731600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:120729000-120731800	Active TSS	A549	lung
36	chr12:120729200-120731000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:120729200-120731000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:120729200-120731000	Active TSS	Thymus	Thymus
39	chr12:120729200-120731200	Active TSS	Primary T cells from cord blood	blood
40	chr12:120729200-120731200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:120729200-120731200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr12:120729200-120731200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:120729200-120731200	Active TSS	Brain Hippocampus Middle	brain
44	chr12:120729200-120731400	Active TSS	H1 Cell Line	embryonic stem cell
45	chr12:120729200-120731400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:120729200-120731400	Active TSS	Brain Cingulate Gyrus	brain
47	chr12:120729200-120731400	Active TSS	Fetal Muscle Trunk	muscle
48	chr12:120729400-120731000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:120729400-120731000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr12:120729400-120731200	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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