Variant report

Variant	rs61914303
Chromosome Location	chr12:1291570-1291571
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1073938	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073939	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][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	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12425157	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12425793	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12426549	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16928276	0.95[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	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2369703	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2906107	0.94[ASN][1000 genomes]
rs2906108	0.82[AMR][1000 genomes];0.94[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	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2968884	0.90[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	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56993974	0.94[ASN][1000 genomes]
rs60297984	0.80[EUR][1000 genomes]
rs60735284	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61911961	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61911968	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61911970	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61911971	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61911973	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61911974	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61911979	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61912028	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61912031	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61914293	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61914296	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914297	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914298	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914300	0.81[AMR][1000 genomes]
rs61914304	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914305	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61914324	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61914326	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61914327	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61914328	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61914329	0.80[AMR][1000 genomes]
rs6489269	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7133548	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7138610	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs721859	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7967946	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[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:111 , 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	chr12:1225400-1292800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:1237400-1313800	Weak transcription	Small Intestine	intestine
4	chr12:1239600-1291600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:1241200-1301000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:1241200-1306400	Weak transcription	Dnd41	blood
7	chr12:1241200-1307200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:1241400-1307800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:1241800-1292600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:1241800-1326600	Weak transcription	Pancreas	Pancrea
11	chr12:1258400-1299000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:1260200-1299000	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:1262000-1292000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:1262200-1293200	Weak transcription	HMEC	breast
15	chr12:1262200-1294400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:1263000-1293600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:1263000-1298200	Weak transcription	Lung	lung
18	chr12:1263200-1306600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:1263400-1305800	Weak transcription	Thymus	Thymus
20	chr12:1263800-1291800	Weak transcription	Placenta	Placenta
21	chr12:1268800-1313600	Weak transcription	Ovary	ovary
22	chr12:1270400-1298400	Weak transcription	Primary B cells from cord blood	blood
23	chr12:1271600-1301400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:1276600-1305600	Weak transcription	Fetal Brain Female	brain
25	chr12:1277600-1305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:1278000-1293800	Weak transcription	Fetal Thymus	thymus
27	chr12:1278200-1292000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:1278600-1292600	Weak transcription	Adipose Nuclei	Adipose
29	chr12:1278600-1306000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:1278800-1292800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:1278800-1300400	Weak transcription	Fetal Lung	lung
32	chr12:1280000-1292600	Weak transcription	Fetal Intestine Large	intestine
33	chr12:1280000-1295200	Weak transcription	HepG2	liver
34	chr12:1281000-1292600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:1281200-1292200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:1281200-1296600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr12:1281200-1298800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:1281200-1301800	Weak transcription	Fetal Brain Male	brain
39	chr12:1281200-1313600	Weak transcription	Fetal Kidney	kidney
40	chr12:1281600-1293600	Weak transcription	NHDF-Ad	bronchial
41	chr12:1281600-1300800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:1281800-1292600	Weak transcription	HUVEC	blood vessel
43	chr12:1282200-1313800	Weak transcription	Hela-S3	cervix
44	chr12:1283200-1305000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:1283200-1313600	Weak transcription	Aorta	Aorta
46	chr12:1283400-1294000	Weak transcription	Left Ventricle	heart
47	chr12:1283400-1298200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:1283400-1299000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:1283400-1308000	Weak transcription	Esophagus	oesophagus
50	chr12:1283400-1309600	Weak transcription	Gastric	stomach

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