Variant report

Variant	rs12321960
Chromosome Location	chr12:46871935-46871936
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46758281..46761226-chr12:46870849..46874065,3	K562	blood:
2	chr12:46764528..46766166-chr12:46871447..46874277,3	MCF-7	breast:
3	chr12:46775882..46782891-chr12:46867252..46874732,11	MCF-7	breast:
4	chr12:46871184..46873027-chr12:46873252..46874849,2	MCF-7	breast:
5	chr12:46764163..46766533-chr12:46871706..46874790,3	K562	blood:
6	chr12:46847999..46849611-chr12:46871552..46873067,2	MCF-7	breast:
7	chr12:46871245..46874397-chr12:46874774..46877643,3	MCF-7	breast:
8	chr12:46748464..46750093-chr12:46871692..46873672,2	MCF-7	breast:
9	chr12:46870046..46873030-chr12:46878483..46880314,2	MCF-7	breast:
10	chr12:46871119..46873013-chr12:46881445..46883647,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257496	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10467215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10880973	0.81[YRI][hapmap]
rs11183454	0.83[CHB][hapmap]
rs11183467	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs11183482	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs11183486	0.84[YRI][hapmap]
rs11183500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183510	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11183513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1125908	0.81[CHB][hapmap]
rs11830086	1.00[EUR][1000 genomes]
rs11834444	1.00[EUR][1000 genomes]
rs12296535	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs12296783	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299499	0.93[CHB][hapmap];0.92[JPT][hapmap]
rs12302091	0.81[ASN][1000 genomes]
rs12313929	0.81[YRI][hapmap]
rs12317179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12317255	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs12321468	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs12321512	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs12824565	0.83[YRI][hapmap]
rs13377959	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs17096884	0.82[CHB][hapmap]
rs17096896	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs17096922	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs17096996	1.00[EUR][1000 genomes]
rs17096998	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2307062	0.82[CHB][hapmap]
rs2307063	0.83[CHB][hapmap]
rs2408578	1.00[EUR][1000 genomes]
rs34098443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36010856	0.95[ASN][1000 genomes]
rs3742061	0.83[CHB][hapmap]
rs3935048	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768727	0.95[YRI][hapmap]
rs55649919	1.00[EUR][1000 genomes]
rs58127062	0.92[ASN][1000 genomes]
rs58353248	0.92[ASN][1000 genomes]
rs58890669	0.95[ASN][1000 genomes]
rs59451063	1.00[EUR][1000 genomes]
rs59608605	0.95[ASN][1000 genomes]
rs60876255	1.00[EUR][1000 genomes]
rs61351787	1.00[EUR][1000 genomes]
rs7136748	1.00[EUR][1000 genomes]
rs7313172	0.92[ASN][1000 genomes]
rs73290315	0.95[ASN][1000 genomes]
rs74085404	1.00[EUR][1000 genomes]
rs74085421	1.00[EUR][1000 genomes]
rs74085432	1.00[EUR][1000 genomes]
rs74085442	1.00[EUR][1000 genomes]
rs74085444	1.00[EUR][1000 genomes]
rs74085447	1.00[EUR][1000 genomes]
rs7953339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7954314	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7967889	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs7975472	1.00[EUR][1000 genomes]
rs7980023	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:46864200-46877400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:46864400-46877400	Weak transcription	Primary T cells from cord blood	blood
4	chr12:46865400-46879200	Weak transcription	Right Ventricle	heart
5	chr12:46867800-46873400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:46867800-46875800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:46868000-46872200	Enhancers	HepG2	liver
8	chr12:46868000-46876200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:46868000-46876200	Weak transcription	Primary B cells from cord blood	blood
10	chr12:46868000-46876400	Weak transcription	K562	blood
11	chr12:46868000-46881200	Weak transcription	GM12878-XiMat	blood
12	chr12:46868000-46883200	Weak transcription	Fetal Heart	heart
13	chr12:46868200-46877400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:46868200-46879200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:46868600-46872400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:46868600-46872600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:46868600-46872800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:46868600-46874000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:46868600-46874000	Weak transcription	Pancreas	Pancrea
20	chr12:46868600-46874000	Weak transcription	NHDF-Ad	bronchial
21	chr12:46868600-46874000	Weak transcription	NHEK	skin
22	chr12:46868600-46874200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:46868600-46877400	Weak transcription	Fetal Intestine Small	intestine
24	chr12:46868600-46877400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:46868600-46877600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:46868600-46877600	Weak transcription	Ovary	ovary
27	chr12:46868600-46883000	Weak transcription	Left Ventricle	heart
28	chr12:46868600-46883400	Weak transcription	Psoas Muscle	Psoas
29	chr12:46868600-46889200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:46868800-46876600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:46868800-46883400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:46868800-46886000	Weak transcription	HSMMtube	muscle
33	chr12:46869200-46872800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:46869200-46876400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:46869200-46876800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:46869800-46872200	Enhancers	Hela-S3	cervix
37	chr12:46870000-46872000	Enhancers	A549	lung
38	chr12:46870400-46872000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:46870400-46880400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:46870600-46872000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:46871000-46872000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:46871000-46872000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:46871000-46872000	Enhancers	HUVEC	blood vessel
44	chr12:46871000-46872000	Enhancers	NHLF	lung
45	chr12:46871000-46872200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:46871000-46872200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:46871200-46874000	Weak transcription	Esophagus	oesophagus
48	chr12:46871200-46874000	Weak transcription	Gastric	stomach
49	chr12:46871200-46887800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:46871600-46872400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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