Variant report

Variant	rs16950047
Chromosome Location	chr12:120729498-120729499
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:317)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr12:120424138..120428272-chr12:120728453..120731316,5	K562	blood:
2	chr12:120729263..120729953-chr2:48567408..48568402,2	Hela-S3	cervix:
3	chr12:120729385..120730011-chr2:25194674..25195611,2	Hela-S3	cervix:
4	chr1:116914899..116917203-chr12:120728058..120730757,2	MCF-7	breast:
5	chr12:120727871..120730309-chr20:46130570..46132928,2	MCF-7	breast:
6	chr12:120529252..120531739-chr12:120728322..120731564,3	MCF-7	breast:
7	chr12:120727954..120730801-chr14:35872614..35874723,2	MCF-7	breast:
8	chr12:120729331..120729856-chr7:23145100..23145844,2	HCT-116	colon:
9	chr12:120426620..120429059-chr12:120727400..120730169,3	MCF-7	breast:
10	chr12:120729288..120730125-chrX:16804114..16804834,2	Hela-S3	cervix:
11	chr12:120685626..120692224-chr12:120727115..120732105,16	K562	blood:
12	chr12:120729387..120731467-chr6:13710748..13713061,2	MCF-7	breast:
13	chr12:120729209..120731364-chr8:145751583..145753528,2	MCF-7	breast:
14	chr12:120729234..120729869-chr17:49243719..49244246,2	NB4	blood:
15	chr12:120728918..120730847-chr4:164086639..164088753,2	MCF-7	breast:
16	chr12:120729250..120730010-chr22:51066521..51067242,2	NB4	blood:
17	chr12:120729283..120730124-chr5:107716642..107717534,2	Hela-S3	cervix:
18	chr12:120606014..120608808-chr12:120727801..120732027,4	MCF-7	breast:
19	chr12:120646880..120656528-chr12:120726067..120732546,19	K562	blood:
20	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
21	chr12:120729175..120732150-chr15:52245837..52248186,2	MCF-7	breast:
22	chr12:120728435..120730638-chr20:55926255..55929139,2	MCF-7	breast:
23	chr12:120727931..120729513-chr8:128875950..128878540,2	MCF-7	breast:
24	chr12:120729488..120730036-chr6:7389750..7390446,2	Hela-S3	cervix:
25	chr12:120729277..120729973-chr15:41055717..41056485,2	Hela-S3	cervix:
26	chr12:120728477..120731826-chr12:120874371..120876435,3	K562	blood:
27	chr12:120727832..120730785-chr19:46272867..46274932,2	MCF-7	breast:
28	chr12:53298468..53299056-chr12:120729398..120729940,2	MCF-7	breast:
29	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
30	chr12:120729003..120729942-chr19:17326142..17326831,2	Hela-S3	cervix:
31	chr12:120615329..120617657-chr12:120728352..120730114,2	MCF-7	breast:
32	chr12:120727828..120730967-chr20:60717527..60719045,4	K562	blood:
33	chr12:120729489..120730024-chr6:26270913..26271796,2	Hela-S3	cervix:
34	chr12:120729413..120729927-chr7:123388749..123389671,2	Hela-S3	cervix:
35	chr12:120728045..120729780-chr17:59472665..59474429,2	MCF-7	breast:
36	chr12:120729232..120730736-chr19:18631698..18634072,2	MCF-7	breast:
37	chr1:36867858..36868836-chr12:120729276..120729941,3	Hela-S3	cervix:
38	chr12:120728080..120732301-chr12:120874297..120877936,6	K562	blood:
39	chr12:120728284..120730312-chr12:120764275..120767434,3	K562	blood:
40	chr10:89577213..89577931-chr12:120729063..120729972,2	HCT-116	colon:
41	chr12:120728900..120729827-chrX:153718923..153719426,2	MCF-7	breast:
42	chr12:112846897..112847434-chr12:120729258..120729819,2	NB4	blood:
43	chr12:120729256..120730135-chr14:75746268..75746938,2	Hela-S3	cervix:
44	chr12:120729218..120729841-chr7:108166147..108166820,2	Hela-S3	cervix:
45	chr1:41327575..41328153-chr12:120729404..120730312,2	Hela-S3	cervix:
46	chr12:120729370..120729886-chr5:271669..272321,2	Hela-S3	cervix:
47	chr12:120729303..120730037-chr8:97273744..97274372,2	HCT-116	colon:
48	chr12:120728049..120731590-chr12:120965249..120968541,5	K562	blood:
49	chr11:67168850..67169890-chr12:120729044..120730035,3	Hela-S3	cervix:
50	chr12:120729261..120730769-chr14:38062187..38064055,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169564	Chromatin interaction
ENSG00000157107	Chromatin interaction
ENSG00000104131	Chromatin interaction
ENSG00000053501	Chromatin interaction
ENSG00000184402	Chromatin interaction
ENSG00000236794	Chromatin interaction
ENSG00000258496	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000177764	Chromatin interaction
ENSG00000213137	Chromatin interaction
ENSG00000159720	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000200889	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000130985	Chromatin interaction
ENSG00000068885	Chromatin interaction
ENSG00000106355	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000179818	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000073670	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000231119	Chromatin interaction
ENSG00000242110	Chromatin interaction
ENSG00000124784	Chromatin interaction
ENSG00000100299	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000104936	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000064995	Chromatin interaction
ENSG00000260657	Chromatin interaction
ENSG00000004487	Chromatin interaction
ENSG00000127838	Chromatin interaction
ENSG00000143786	Chromatin interaction
ENSG00000100241	Chromatin interaction
ENSG00000112624	Chromatin interaction
ENSG00000199709	Chromatin interaction
ENSG00000116514	Chromatin interaction
ENSG00000204220	Chromatin interaction
ENSG00000150991	Chromatin interaction
ENSG00000160957	Chromatin interaction
ENSG00000049618	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000266173	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000170890	Chromatin interaction
ENSG00000270049	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000160678	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000185633	Chromatin interaction
ENSG00000116752	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000263583	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000197763	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000269054	Chromatin interaction
ENSG00000001630	Chromatin interaction
ENSG00000251889	Chromatin interaction
ENSG00000101213	Chromatin interaction
ENSG00000177189	Chromatin interaction
ENSG00000148356	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000164304	Chromatin interaction
ENSG00000137880	Chromatin interaction
ENSG00000173349	Chromatin interaction
ENSG00000101182	Chromatin interaction
ENSG00000106299	Chromatin interaction
ENSG00000271991	Chromatin interaction
ENSG00000131495	Chromatin interaction
ENSG00000125148	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000137767	Chromatin interaction
ENSG00000187514	Chromatin interaction
ENSG00000112378	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000075399	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000252560	Chromatin interaction
ENSG00000265455	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000087086	Chromatin interaction
ENSG00000249915	Chromatin interaction
ENSG00000105778	Chromatin interaction
ENSG00000229474	Chromatin interaction
ENSG00000267580	Chromatin interaction
ENSG00000156471	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000205795	Chromatin interaction
ENSG00000089009	Chromatin interaction
ENSG00000150753	Chromatin interaction
ENSG00000155903	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000151065	Chromatin interaction
ENSG00000252659	Chromatin interaction
ENSG00000230415	Chromatin interaction
ENSG00000230454	Chromatin interaction
ENSG00000256028	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000163399	Chromatin interaction
ENSG00000162006	Chromatin interaction
ENSG00000129514	Chromatin interaction
ENSG00000111669	Chromatin interaction
ENSG00000122550	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000164070	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000186312	Chromatin interaction
ENSG00000008513	Chromatin interaction
ENSG00000135097	Chromatin interaction
ENSG00000122512	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000009954	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000229980	Chromatin interaction
ENSG00000264052	Chromatin interaction
ENSG00000154719	Chromatin interaction
ENSG00000159176	Chromatin interaction
ENSG00000125534	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000011021	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000152904	Chromatin interaction
ENSG00000188693	Chromatin interaction
ENSG00000111912	Chromatin interaction
ENSG00000163918	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000140043	Chromatin interaction
ENSG00000267212	Chromatin interaction
ENSG00000179862	Chromatin interaction
ENSG00000109046	Chromatin interaction
ENSG00000170727	Chromatin interaction
ENSG00000263913	Chromatin interaction
ENSG00000237441	Chromatin interaction
ENSG00000112245	Chromatin interaction
ENSG00000256008	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000145414	Chromatin interaction
ENSG00000113141	Chromatin interaction
ENSG00000117906	Chromatin interaction
ENSG00000138138	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000239881	Chromatin interaction
ENSG00000271843	Chromatin interaction
ENSG00000209042	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000158615	Chromatin interaction
ENSG00000132313	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000122971	Chromatin interaction
ENSG00000113810	Chromatin interaction
ENSG00000136492	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000182795	Chromatin interaction
ENSG00000131153	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000186716	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000145494	Chromatin interaction
ENSG00000164961	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000139116	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000157837	Chromatin interaction
ENSG00000266680	Chromatin interaction
ENSG00000149923	Chromatin interaction
ENSG00000100243	Chromatin interaction
ENSG00000140612	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000267727	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000256569	Chromatin interaction
ENSG00000243910	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000168374	Chromatin interaction
ENSG00000115137	Chromatin interaction
ENSG00000127824	Chromatin interaction
ENSG00000027847	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000179523	Chromatin interaction
ENSG00000142178	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000156469	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000181789	Chromatin interaction
ENSG00000149932	Chromatin interaction
ENSG00000185122	Chromatin interaction
ENSG00000168488	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000266704	Chromatin interaction
ENSG00000248636	Chromatin interaction
ENSG00000117036	Chromatin interaction
ENSG00000147123	Chromatin interaction
ENSG00000160182	Chromatin interaction
ENSG00000156831	Chromatin interaction
ENSG00000166477	Chromatin interaction
ENSG00000109062	Chromatin interaction
ENSG00000264063	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000268230	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000135605	Chromatin interaction
ENSG00000243678	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000139726	Chromatin interaction
ENSG00000232810	Chromatin interaction
ENSG00000261135	Chromatin interaction
ENSG00000164402	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000223820	Chromatin interaction
ENSG00000096401	Chromatin interaction
ENSG00000249494	Chromatin interaction
ENSG00000107147	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000174586	Chromatin interaction
ENSG00000272081	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000120709	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000172869	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000177426	Chromatin interaction
ENSG00000224536	Chromatin interaction
ENSG00000179104	Chromatin interaction
ENSG00000162923	Chromatin interaction
ENSG00000101146	Chromatin interaction
ENSG00000183735	Chromatin interaction
ENSG00000201164	Chromatin interaction
ENSG00000267395	Chromatin interaction
ENSG00000112658	Chromatin interaction
ENSG00000166716	Chromatin interaction
ENSG00000171421	Chromatin interaction
ENSG00000111653	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000203593	Chromatin interaction
ENSG00000202339	Chromatin interaction
ENSG00000177000	Chromatin interaction
ENSG00000138430	Chromatin interaction
ENSG00000119414	Chromatin interaction
ENSG00000111325	Chromatin interaction
ENSG00000171988	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000088451	Chromatin interaction
ENSG00000102780	Chromatin interaction
ENSG00000241127	Chromatin interaction
ENSG00000113360	Chromatin interaction
ENSG00000120129	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000257341	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000104472	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000155846	Chromatin interaction
ENSG00000153956	Chromatin interaction
ENSG00000086712	Chromatin interaction
ENSG00000167733	Chromatin interaction
ENSG00000254402	Chromatin interaction
ENSG00000247315	Chromatin interaction
ENSG00000145743	Chromatin interaction
ENSG00000082213	Chromatin interaction
ENSG00000183891	Chromatin interaction
ENSG00000222821	Chromatin interaction
ENSG00000166710	Chromatin interaction
ENSG00000230658	Chromatin interaction
ENSG00000269363	Chromatin interaction
ENSG00000198113	Chromatin interaction
ENSG00000264624	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000271899	Chromatin interaction
ENSG00000158402	Chromatin interaction
ENSG00000213145	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000221521	Chromatin interaction
ENSG00000136280	Chromatin interaction
ENSG00000085760	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000182872	Chromatin interaction
ENSG00000160087	Chromatin interaction
ENSG00000132819	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000219410	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000198931	Chromatin interaction
ENSG00000181013	Chromatin interaction
ENSG00000201628	Chromatin interaction
ENSG00000264462	Chromatin interaction
ENSG00000240925	Chromatin interaction
ENSG00000272686	Chromatin interaction
ENSG00000132623	Chromatin interaction
ENSG00000224165	Chromatin interaction
ENSG00000135913	Chromatin interaction
ENSG00000258653	Chromatin interaction
ENSG00000163848	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000197958	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000261373	Chromatin interaction
ENSG00000111725	Chromatin interaction
ENSG00000252974	Chromatin interaction
ENSG00000136059	Chromatin interaction
ENSG00000227057	Chromatin interaction
ENSG00000089157	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1151826	0.89[CHB][hapmap]
rs1151828	0.89[CHB][hapmap]
rs1151835	0.89[CHB][hapmap]
rs1151836	0.89[CHB][hapmap]
rs1179386	0.89[CHB][hapmap]
rs12299143	0.93[EUR][1000 genomes]
rs12423303	0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs12424233	0.82[CEU][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes]
rs12424555	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12425936	0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs12426368	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12426900	0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs12427069	0.86[EUR][1000 genomes]
rs12427095	0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs1634820	0.89[CHB][hapmap]
rs16950044	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950058	0.82[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16950061	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16950065	0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16950101	0.93[EUR][1000 genomes]
rs2238158	0.86[EUR][1000 genomes]
rs2238161	0.93[EUR][1000 genomes]
rs2239207	0.89[CHB][hapmap]
rs2464296	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2522140	0.81[EUR][1000 genomes]
rs2701641	0.89[CHB][hapmap]
rs2701643	0.90[EUR][1000 genomes]
rs2905543	0.83[EUR][1000 genomes]
rs3847967	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3847968	0.89[CHB][hapmap];0.89[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3847969	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3898618	0.93[EUR][1000 genomes]
rs5634	0.82[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56733641	0.90[EUR][1000 genomes]
rs57141366	0.83[EUR][1000 genomes]
rs57279831	0.93[EUR][1000 genomes]
rs57384430	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58232894	0.84[EUR][1000 genomes]
rs59447311	0.85[EUR][1000 genomes]
rs59768240	0.93[EUR][1000 genomes]
rs60176939	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60731947	0.86[EUR][1000 genomes]
rs61140476	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61592165	0.88[EUR][1000 genomes]
rs61665022	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61748115	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7960401	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7977875	0.84[EUR][1000 genomes]
rs9657936	0.82[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9657941	0.82[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9657942	0.82[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9657948	0.85[AMR][1000 genomes];0.93[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
rs16950047	SIRT4	cis	multi-tissue	Pritchard

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120725200-120729800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:120725200-120730000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:120725200-120730000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:120727600-120729800	Enhancers	Fetal Brain Male	brain
5	chr12:120728400-120729600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:120728400-120729800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:120728400-120729800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr12:120728400-120729800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:120728400-120730800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:120728400-120731000	Active TSS	Pancreas	Pancrea
11	chr12:120728400-120731200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr12:120728400-120731400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:120728400-120731400	Active TSS	Rectal Smooth Muscle	rectum
14	chr12:120728600-120729600	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr12:120728600-120729800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:120728600-120730200	Enhancers	Fetal Heart	heart
17	chr12:120728600-120730400	Active TSS	Brain Angular Gyrus	brain
18	chr12:120728600-120730600	Active TSS	Fetal Kidney	kidney
19	chr12:120728600-120730800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:120728600-120730800	Active TSS	Right Atrium	heart
21	chr12:120728600-120731000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr12:120728600-120731000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:120728600-120731000	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr12:120728600-120731200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr12:120728600-120731200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:120728600-120731200	Active TSS	Colon Smooth Muscle	Colon
27	chr12:120728600-120731400	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:120728600-120731400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:120728600-120731400	Active TSS	Colonic Mucosa	Colon
30	chr12:120728600-120731400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr12:120728600-120731400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr12:120728600-120731600	Active TSS	Brain Substantia Nigra	brain
33	chr12:120728800-120729600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr12:120728800-120729600	Weak transcription	HMEC	breast
35	chr12:120728800-120730400	Active TSS	Fetal Brain Female	brain
36	chr12:120728800-120730600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr12:120728800-120731000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:120728800-120731000	Active TSS	Left Ventricle	heart
39	chr12:120728800-120731200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr12:120728800-120731200	Active TSS	Right Ventricle	heart
41	chr12:120728800-120731600	Active TSS	Psoas Muscle	Psoas
42	chr12:120729000-120729600	Active TSS	Stomach Smooth Muscle	stomach
43	chr12:120729000-120729800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:120729000-120729800	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr12:120729000-120729800	Weak transcription	HSMMtube	muscle
46	chr12:120729000-120729800	Enhancers	NH-A	brain
47	chr12:120729000-120729800	Weak transcription	NHDF-Ad	bronchial
48	chr12:120729000-120730400	Active TSS	Aorta	Aorta
49	chr12:120729000-120730400	Active TSS	Hela-S3	cervix
50	chr12:120729000-120730400	Active TSS	HUVEC	blood vessel

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