Variant report

Variant	rs73597964
Chromosome Location	chr12:1540227-1540228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11061763	0.82[EUR][1000 genomes]
rs12300475	0.80[EUR][1000 genomes]
rs12306978	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309872	0.80[EUR][1000 genomes]
rs12318883	0.80[EUR][1000 genomes]
rs12319342	0.80[EUR][1000 genomes]
rs12319376	0.82[EUR][1000 genomes]
rs16927897	0.82[EUR][1000 genomes]
rs16928432	0.82[EUR][1000 genomes]
rs17800906	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55888927	0.80[EUR][1000 genomes]
rs59624680	0.80[EUR][1000 genomes]
rs6489287	0.82[EUR][1000 genomes]
rs73597965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969825	0.94[EUR][1000 genomes]
rs7973613	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	nsv1039488	chr12:1486636-1567275	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
22	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised 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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1501200-1544400	Weak transcription	Right Ventricle	heart
2	chr12:1518600-1553400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:1523600-1541000	Weak transcription	Pancreas	Pancrea
4	chr12:1527600-1554600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:1530800-1541000	Weak transcription	NHEK	skin
6	chr12:1530800-1543600	Weak transcription	Ovary	ovary
7	chr12:1530800-1543800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:1530800-1544400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:1530800-1545600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:1530800-1552600	Weak transcription	Aorta	Aorta
11	chr12:1530800-1554600	Weak transcription	Spleen	Spleen
12	chr12:1530800-1554600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:1530800-1583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:1531000-1545400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:1531000-1545800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:1531200-1541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:1531400-1548200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:1531400-1552600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:1531400-1554600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:1531400-1554800	Weak transcription	Primary B cells from cord blood	blood
21	chr12:1531400-1574200	Weak transcription	Thymus	Thymus
22	chr12:1532200-1555200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:1532400-1554400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:1532400-1581000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:1532600-1554600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:1532600-1557200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:1533800-1543600	Weak transcription	HepG2	liver
28	chr12:1534600-1543800	Weak transcription	Fetal Intestine Large	intestine
29	chr12:1534600-1544400	Weak transcription	Small Intestine	intestine
30	chr12:1534800-1543600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:1536400-1544000	Weak transcription	Fetal Heart	heart
32	chr12:1537000-1541400	Weak transcription	Primary T cells from cord blood	blood
33	chr12:1537200-1544400	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:1537200-1552600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:1537600-1540400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:1538200-1554800	Weak transcription	Adipose Nuclei	Adipose
37	chr12:1538200-1557200	Weak transcription	Brain Angular Gyrus	brain
38	chr12:1538600-1546000	Weak transcription	Brain Substantia Nigra	brain
39	chr12:1539000-1545800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:1539200-1554400	Weak transcription	Brain Anterior Caudate	brain
41	chr12:1539400-1541000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:1539400-1543600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:1539400-1543800	Weak transcription	Fetal Lung	lung
44	chr12:1539400-1544400	Weak transcription	Fetal Brain Female	brain
45	chr12:1539400-1544800	Weak transcription	Left Ventricle	heart
46	chr12:1539400-1545800	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:1539400-1552400	Weak transcription	HSMMtube	muscle
48	chr12:1539600-1541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:1539600-1541000	Weak transcription	HMEC	breast
50	chr12:1539600-1544000	Weak transcription	Osteobl	bone

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