Variant report

Variant	rs10876964
Chromosome Location	chr12:57530814-57530815
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57529648-57530845	U87	brain:	n/a	n/a
2	RCOR1	chr12:57528752-57530900	IMR90	lung:	n/a	n/a
3	POLR2A	chr12:57529642-57530851	U87	brain:	n/a	n/a
4	POLR2A	chr12:57530113-57530837	U87	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57529509..57531589-chr12:57546286..57548112,2	K562	blood:
2	chr12:57523914..57525721-chr12:57528681..57531403,2	K562	blood:
3	chr12:57523914..57525971-chr12:57529903..57532518,2	K562	blood:
4	chr12:57530340..57532510-chr12:57555073..57556833,2	MCF-7	breast:
5	chr12:57529139..57531272-chr12:57558863..57560551,2	MCF-7	breast:
6	chr12:57520649..57522697-chr12:57530721..57533381,2	MCF-7	breast:

No data

Variant related genes	Relation type
STAT6	TF binding region
ENSG00000123384	Chromatin interaction
ENSG00000166888	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10747776	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10876965	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172113	0.87[ASN][1000 genomes]
rs11172114	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1385526	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1466535	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4257011	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4367982	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759044	1.00[ASN][1000 genomes]
rs4759045	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4759277	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	103 gene(s)	inside rSNPs	diseases
3	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57523400-57557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:57523600-57532400	Weak transcription	Pancreas	Pancrea
3	chr12:57523800-57532600	Weak transcription	Gastric	stomach
4	chr12:57523800-57537000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:57524000-57542200	Weak transcription	HMEC	breast
6	chr12:57524000-57543000	Weak transcription	NHEK	skin
7	chr12:57525800-57531800	Weak transcription	Small Intestine	intestine
8	chr12:57525800-57534200	Genic enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:57526000-57531000	Enhancers	Brain Angular Gyrus	brain
10	chr12:57526200-57534800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:57526400-57532400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:57526600-57532200	Enhancers	Liver	Liver
13	chr12:57526600-57533400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:57526800-57531600	Genic enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:57527000-57532000	Weak transcription	Hela-S3	cervix
16	chr12:57527000-57534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:57527200-57531600	Weak transcription	K562	blood
18	chr12:57527200-57533400	Weak transcription	Fetal Kidney	kidney
19	chr12:57527800-57532000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:57528000-57531600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:57528200-57531800	Weak transcription	Esophagus	oesophagus
22	chr12:57528800-57532200	Enhancers	Colonic Mucosa	Colon
23	chr12:57529000-57531000	Enhancers	HSMMtube	muscle
24	chr12:57529000-57532400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:57529200-57531000	Enhancers	Brain Substantia Nigra	brain
26	chr12:57529200-57531000	Enhancers	Right Atrium	heart
27	chr12:57529600-57531200	Weak transcription	Stomach Mucosa	stomach
28	chr12:57529600-57532000	Weak transcription	A549	lung
29	chr12:57529800-57531400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:57529800-57531800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:57529800-57531800	Enhancers	Brain Cingulate Gyrus	brain
32	chr12:57529800-57533000	Enhancers	Adipose Nuclei	Adipose
33	chr12:57529800-57533800	Genic enhancers	Fetal Intestine Small	intestine
34	chr12:57530000-57531400	Weak transcription	Spleen	Spleen
35	chr12:57530000-57531800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:57530000-57531800	Weak transcription	Fetal Brain Female	brain
37	chr12:57530000-57532000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:57530000-57532200	Enhancers	Placenta	Placenta
39	chr12:57530000-57532600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:57530000-57537600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:57530200-57532200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:57530200-57532200	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr12:57530200-57533000	Genic enhancers	Fetal Stomach	stomach
44	chr12:57530400-57531000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr12:57530400-57531000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:57530400-57531200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:57530400-57531200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr12:57530400-57531400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:57530400-57531400	Enhancers	Fetal Muscle Leg	muscle
50	chr12:57530400-57531600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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