Variant report

Variant	rs61914305
Chromosome Location	chr12:1294871-1294872
allele	C/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	IKZF1	chr12:1294646-1295319	GM12878	blood:	n/a	n/a
2	EP300	chr12:1294858-1295324	GM12878	blood:	n/a	chr12:1294985-1294995
3	RUNX3	chr12:1294853-1295395	GM12878	blood:	n/a	n/a
4	EP300	chr12:1294696-1295316	GM12878	blood:	n/a	chr12:1294985-1294995
5	ZNF384	chr12:1294867-1295206	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ERC1	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1073938	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073939	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10848449	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12300925	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12301153	0.84[ASN][1000 genomes]
rs12317067	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12423086	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12425157	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12425793	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12426549	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16928276	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2023941	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2369702	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2369703	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2906107	0.94[ASN][1000 genomes]
rs2906108	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906110	0.97[ASN][1000 genomes]
rs2906113	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2968877	0.94[ASN][1000 genomes]
rs2968879	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968884	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2968885	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2968887	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2968894	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56993974	0.94[ASN][1000 genomes]
rs60735284	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61911961	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61911968	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61911970	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61911971	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61911973	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61911974	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61911979	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61912028	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61912031	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61914293	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61914296	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914297	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914298	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914303	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914304	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914324	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61914326	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61914327	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61914328	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6489269	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7133548	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7138610	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs721859	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7952832	0.81[EUR][1000 genomes]
rs7967946	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898576	chr12:813411-1553450	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948760	chr12:863833-1542875	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1052589	chr12:910460-1421493	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv468960	chr12:975276-1455106	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv556941	chr12:975276-1455106	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1044329	chr12:985144-1403020	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv541340	chr12:985144-1403020	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv470256	chr12:998365-1438761	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv492321	chr12:1011692-1388512	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv898579	chr12:1013176-1510505	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
13	nsv898580	chr12:1024688-1569097	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	nsv1036488	chr12:1041097-1445923	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
15	nsv1037825	chr12:1045734-1432940	Bivalent/Poised TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
16	nsv541342	chr12:1045734-1432940	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
17	nsv868854	chr12:1045935-1354083	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
18	esv2762958	chr12:1049279-1554962	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
19	nsv1052559	chr12:1077964-1588543	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
20	nsv898581	chr12:1084783-1527359	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
21	nsv1041799	chr12:1091294-1304839	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
22	nsv541343	chr12:1091294-1304839	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
23	nsv1046134	chr12:1153489-1675223	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
24	nsv541344	chr12:1153489-1675223	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
25	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
26	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
27	nsv1039826	chr12:1259831-1483326	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
28	nsv930996	chr12:1270113-1473328	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	nsv524525	chr12:1272363-1366511	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv1050361	chr12:1274052-1541558	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
31	nsv898582	chr12:1286841-1416592	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1221800-1301800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:1237400-1313800	Weak transcription	Small Intestine	intestine
3	chr12:1241200-1301000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:1241200-1306400	Weak transcription	Dnd41	blood
5	chr12:1241200-1307200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:1241400-1307800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:1241800-1326600	Weak transcription	Pancreas	Pancrea
8	chr12:1258400-1299000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:1260200-1299000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:1263000-1298200	Weak transcription	Lung	lung
11	chr12:1263200-1306600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:1263400-1305800	Weak transcription	Thymus	Thymus
13	chr12:1268800-1313600	Weak transcription	Ovary	ovary
14	chr12:1270400-1298400	Weak transcription	Primary B cells from cord blood	blood
15	chr12:1271600-1301400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:1276600-1305600	Weak transcription	Fetal Brain Female	brain
17	chr12:1277600-1305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:1278600-1306000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:1278800-1300400	Weak transcription	Fetal Lung	lung
20	chr12:1280000-1295200	Weak transcription	HepG2	liver
21	chr12:1281200-1296600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:1281200-1298800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:1281200-1301800	Weak transcription	Fetal Brain Male	brain
24	chr12:1281200-1313600	Weak transcription	Fetal Kidney	kidney
25	chr12:1281600-1300800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:1282200-1313800	Weak transcription	Hela-S3	cervix
27	chr12:1283200-1305000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:1283200-1313600	Weak transcription	Aorta	Aorta
29	chr12:1283400-1298200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:1283400-1299000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:1283400-1308000	Weak transcription	Esophagus	oesophagus
32	chr12:1283400-1309600	Weak transcription	Gastric	stomach
33	chr12:1283400-1312600	Weak transcription	Brain Germinal Matrix	brain
34	chr12:1283400-1313600	Weak transcription	Right Ventricle	heart
35	chr12:1283400-1313600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:1283600-1313000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:1283800-1301200	Weak transcription	Brain Anterior Caudate	brain
38	chr12:1283800-1301200	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:1283800-1313600	Weak transcription	Brain Substantia Nigra	brain
40	chr12:1283800-1315200	Weak transcription	HSMMtube	muscle
41	chr12:1284000-1304600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr12:1284000-1312600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:1284000-1313800	Weak transcription	Brain Angular Gyrus	brain
44	chr12:1284400-1301200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:1286000-1313600	Weak transcription	Psoas Muscle	Psoas
46	chr12:1286400-1301000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:1287200-1312600	Weak transcription	Spleen	Spleen
48	chr12:1287400-1295000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:1287800-1295000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:1288000-1303400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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