Variant report

Variant	rs1869652
Chromosome Location	chr12:32975760-32975761
allele	A/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	POLR2A	chr12:32975719-32975842	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32907107..32909879-chr12:32974270..32975942,2	K562	blood:

Variant related genes	Relation type
PKP2	TF binding region
ENSG00000139131	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10506100	1.00[JPT][hapmap]
rs11052113	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052115	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052116	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052119	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11611761	1.00[JPT][hapmap]
rs12299979	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12300443	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12300477	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12307858	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12321158	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12322190	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12580531	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12821132	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16920249	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17539792	1.00[CHB][hapmap]
rs17539848	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17543624	1.00[JPT][hapmap]
rs2133543	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4575368	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931029	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931030	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931031	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931646	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4931647	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs57166215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59531342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61500775	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7299220	1.00[JPT][hapmap]
rs7301619	1.00[JPT][hapmap]
rs7313522	1.00[JPT][hapmap]
rs73299972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301718	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301756	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73301785	0.85[AFR][1000 genomes]
rs73301791	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303630	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7972313	1.00[ASN][1000 genomes]
rs9919823	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv531961	chr12:32966192-32997952	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
3	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
4	chr12:32949200-32987000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:32961000-32989800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:32963000-32986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:32965000-32977800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:32965000-32996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:32966600-32977800	Strong transcription	Duodenum Mucosa	Duodenum
11	chr12:32967000-32977800	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr12:32967000-32979000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr12:32968400-32977400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:32970400-32977600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:32970800-32978600	Weak transcription	Small Intestine	intestine
16	chr12:32971200-32981400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr12:32971400-32976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:32972400-32977600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:32972600-32977600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:32972600-32977600	Strong transcription	Fetal Intestine Large	intestine
22	chr12:32972600-32978600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:32972800-32977600	Strong transcription	HepG2	liver
24	chr12:32973000-32976400	Strong transcription	Liver	Liver
25	chr12:32973000-32989600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:32973200-32976200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr12:32973400-32975800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:32973400-32976000	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:32973400-32976200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:32973600-32975800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:32974000-32976000	Genic enhancers	HMEC	breast
32	chr12:32974000-32980800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr12:32974000-32987000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:32974200-32976000	Enhancers	Placenta	Placenta
35	chr12:32974200-33030400	Weak transcription	Right Ventricle	heart
36	chr12:32974400-32975800	Enhancers	Fetal Lung	lung
37	chr12:32974400-32992600	Weak transcription	Pancreas	Pancrea
38	chr12:32974600-32977800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:32974600-32978400	Weak transcription	Fetal Intestine Small	intestine
40	chr12:32974600-32981600	Weak transcription	Gastric	stomach
41	chr12:32974600-32987000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:32974600-32987000	Weak transcription	Colonic Mucosa	Colon
43	chr12:32974600-32991000	Weak transcription	Fetal Stomach	stomach
44	chr12:32974600-33004400	Weak transcription	Ovary	ovary
45	chr12:32974800-32976000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:32975000-32976000	Genic enhancers	NHEK	skin
47	chr12:32975000-32977200	Weak transcription	Adipose Nuclei	Adipose
48	chr12:32975200-32976000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:32975200-32976000	Enhancers	Stomach Smooth Muscle	stomach
50	chr12:32975400-32976000	Genic enhancers	Left Ventricle	heart

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