Variant report

Variant	rs35443850
Chromosome Location	chr12:1442321-1442322
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1434502..1436559-chr12:1440756..1442388,2	K562	blood:
2	chr12:1435926..1439325-chr12:1439627..1443045,4	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10848460	0.81[ASN][1000 genomes]
rs10848470	0.85[ASN][1000 genomes]
rs11061704	0.86[ASN][1000 genomes]
rs11061711	0.86[ASN][1000 genomes]
rs11061719	0.81[ASN][1000 genomes]
rs11061720	0.81[ASN][1000 genomes]
rs11061724	0.80[ASN][1000 genomes]
rs11061736	0.85[ASN][1000 genomes]
rs11061740	0.85[ASN][1000 genomes]
rs11061741	0.85[ASN][1000 genomes]
rs11061748	0.85[ASN][1000 genomes]
rs11061750	0.85[ASN][1000 genomes]
rs11609271	0.85[ASN][1000 genomes]
rs11609292	0.85[ASN][1000 genomes]
rs11613252	0.85[ASN][1000 genomes]
rs11614113	0.85[ASN][1000 genomes]
rs11830570	0.85[ASN][1000 genomes]
rs11831980	0.86[ASN][1000 genomes]
rs11832938	0.94[ASN][1000 genomes]
rs11836774	0.88[ASN][1000 genomes]
rs12296944	0.85[ASN][1000 genomes]
rs12301937	0.85[ASN][1000 genomes]
rs12303877	0.81[ASN][1000 genomes]
rs12304139	0.85[ASN][1000 genomes]
rs12305871	0.86[ASN][1000 genomes]
rs12306249	0.96[ASN][1000 genomes]
rs12307046	0.85[ASN][1000 genomes]
rs12307141	0.85[ASN][1000 genomes]
rs12308558	0.81[ASN][1000 genomes]
rs12309281	0.87[ASN][1000 genomes]
rs12311399	0.91[ASN][1000 genomes]
rs12311864	0.85[ASN][1000 genomes]
rs12312647	0.85[ASN][1000 genomes]
rs12314755	0.83[ASN][1000 genomes]
rs12314845	0.86[ASN][1000 genomes]
rs12315490	0.85[ASN][1000 genomes]
rs12316105	0.84[ASN][1000 genomes]
rs12316687	0.85[ASN][1000 genomes]
rs12317217	0.85[ASN][1000 genomes]
rs12317763	0.80[ASN][1000 genomes]
rs12321803	0.85[ASN][1000 genomes]
rs12422537	0.85[ASN][1000 genomes]
rs12422548	0.85[ASN][1000 genomes]
rs12422634	0.98[ASN][1000 genomes]
rs12424140	0.85[ASN][1000 genomes]
rs12810240	0.86[ASN][1000 genomes]
rs1362265	0.85[ASN][1000 genomes]
rs1362266	0.85[ASN][1000 genomes]
rs1476908	0.98[ASN][1000 genomes]
rs1548805	0.85[ASN][1000 genomes]
rs2052183	0.86[ASN][1000 genomes]
rs2052184	0.81[ASN][1000 genomes]
rs2052185	0.81[ASN][1000 genomes]
rs2158447	0.85[ASN][1000 genomes]
rs28535515	0.81[ASN][1000 genomes]
rs34554835	0.98[ASN][1000 genomes]
rs34904059	0.98[ASN][1000 genomes]
rs35098918	0.85[ASN][1000 genomes]
rs36018681	0.98[ASN][1000 genomes]
rs41369952	0.86[ASN][1000 genomes]
rs4359265	0.98[ASN][1000 genomes]
rs4444139	0.85[ASN][1000 genomes]
rs4447228	0.84[ASN][1000 genomes]
rs56057921	0.85[ASN][1000 genomes]
rs56126511	0.86[ASN][1000 genomes]
rs56168743	0.85[ASN][1000 genomes]
rs56228728	0.85[ASN][1000 genomes]
rs56362023	0.96[ASN][1000 genomes]
rs58254940	0.82[ASN][1000 genomes]
rs58328564	0.96[ASN][1000 genomes]
rs59081735	0.97[ASN][1000 genomes]
rs61913071	0.85[ASN][1000 genomes]
rs61913101	0.88[ASN][1000 genomes]
rs61913111	0.85[ASN][1000 genomes]
rs61913131	0.85[ASN][1000 genomes]
rs73026439	0.85[ASN][1000 genomes]
rs7304258	0.81[ASN][1000 genomes]
rs7486336	0.84[ASN][1000 genomes]
rs956408	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv556944	chr12:1308553-1569097	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
21	nsv898583	chr12:1314430-1507616	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv470257	chr12:1314430-1514021	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv1054178	chr12:1372157-1682699	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
24	nsv541347	chr12:1372157-1682699	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
25	nsv1035935	chr12:1400974-1608625	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
26	nsv1039946	chr12:1429190-1548852	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv1044918	chr12:1432740-1584649	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
28	nsv541348	chr12:1432740-1584649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
29	nsv556949	chr12:1437726-1514021	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
30	nsv1046515	chr12:1440896-1588543	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1387400-1453400	Weak transcription	Thymus	Thymus
2	chr12:1404800-1442600	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:1413800-1447600	Weak transcription	Gastric	stomach
4	chr12:1428000-1447600	Weak transcription	Ovary	ovary
5	chr12:1428200-1442800	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:1428200-1443200	Weak transcription	Fetal Brain Female	brain
7	chr12:1428200-1447600	Weak transcription	Left Ventricle	heart
8	chr12:1428200-1448800	Weak transcription	Psoas Muscle	Psoas
9	chr12:1428200-1449000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:1428200-1449000	Weak transcription	Aorta	Aorta
11	chr12:1428200-1455000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:1428200-1500400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:1434600-1442600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:1434600-1454800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:1434600-1473000	Weak transcription	Primary B cells from cord blood	blood
16	chr12:1434600-1476600	Weak transcription	Brain Anterior Caudate	brain
17	chr12:1435600-1448800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:1435600-1459600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:1435800-1443200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:1437000-1448800	Weak transcription	Right Ventricle	heart
21	chr12:1438000-1449000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:1439000-1497800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:1439400-1447600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:1439600-1457600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:1439800-1446600	Weak transcription	Fetal Intestine Large	intestine
26	chr12:1440000-1447200	Weak transcription	Fetal Intestine Small	intestine
27	chr12:1440000-1448800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:1441000-1449000	Weak transcription	Spleen	Spleen
29	chr12:1441000-1455000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:1441000-1458200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:1441000-1480200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:1441600-1442400	Enhancers	Pancreas	Pancrea
33	chr12:1441800-1442400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr12:1441800-1447600	Weak transcription	K562	blood
35	chr12:1441800-1449000	Weak transcription	Esophagus	oesophagus
36	chr12:1442000-1442600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:1442000-1447200	Weak transcription	HepG2	liver
38	chr12:1442000-1448800	Weak transcription	Fetal Heart	heart
39	chr12:1442000-1449000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:1442000-1459400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr12:1442200-1442400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
42	chr12:1442200-1442400	ZNF genes & repeats	Fetal Stomach	stomach
43	chr12:1442200-1442600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:1442200-1443000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:1442200-1449000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:1442200-1455000	Weak transcription	Primary T cells from cord blood	blood
47	chr12:1442200-1458800	Weak transcription	NHEK	skin

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