Variant report

Variant	rs7954314
Chromosome Location	chr12:46797792-46797793
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46795533..46798124-chr12:46799552..46803946,3	K562	blood:
2	chr12:46794174..46798124-chr12:46799495..46805327,7	K562	blood:
3	chr12:46776484..46782223-chr12:46794471..46799373,6	MCF-7	breast:
4	chr12:46777252..46779393-chr12:46796903..46799597,3	MCF-7	breast:
5	chr12:46797323..46800132-chr12:46887352..46889333,2	MCF-7	breast:
6	chr12:46781039..46783581-chr12:46796813..46799166,3	K562	blood:
7	chr12:46796512..46798026-chr12:46803441..46805172,2	MCF-7	breast:
8	chr12:46778629..46780721-chr12:46796448..46799296,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257496	Chromatin interaction
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10467215	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10506267	0.83[CHB][hapmap]
rs11183454	0.88[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11183467	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11183482	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183500	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs11183510	0.94[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap]
rs1125908	0.88[CHB][hapmap];0.93[CHD][hapmap];1.00[AMR][1000 genomes]
rs11830080	1.00[EUR][1000 genomes]
rs11834905	1.00[AMR][1000 genomes]
rs11837634	1.00[EUR][1000 genomes]
rs12299499	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12317255	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12321512	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12321642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12321960	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs12322378	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13377959	1.00[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[JPT][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17096765	1.00[EUR][1000 genomes]
rs17096793	1.00[EUR][1000 genomes]
rs17096884	0.93[ASW][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs17096896	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17096922	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17096998	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs2085682	1.00[EUR][1000 genomes]
rs2125646	0.83[CHB][hapmap]
rs2307062	0.88[CHB][hapmap];0.83[CHD][hapmap]
rs2307063	0.88[CHB][hapmap]
rs2408509	0.83[CHB][hapmap]
rs34280632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35875247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36010856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3742061	0.88[CHB][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes]
rs3935048	0.88[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap]
rs4768118	0.85[LWK][hapmap];1.00[YRI][hapmap]
rs56036156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56160202	1.00[EUR][1000 genomes]
rs56196954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56314009	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57425661	1.00[AMR][1000 genomes]
rs58460251	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58890669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59608605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60565802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60878594	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61406609	1.00[AMR][1000 genomes]
rs73282591	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73290315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74082237	1.00[EUR][1000 genomes]
rs74082254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74082263	1.00[EUR][1000 genomes]
rs74082274	1.00[EUR][1000 genomes]
rs74083758	1.00[EUR][1000 genomes]
rs7488027	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7953339	0.94[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap]
rs7965618	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7967889	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7977319	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7980023	0.94[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap]
rs923788	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9669404	0.81[ASW][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46779600-46802800	Weak transcription	Pancreas	Pancrea
2	chr12:46787000-46798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:46787800-46798200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:46793800-46801200	Enhancers	Dnd41	blood
5	chr12:46794200-46798600	Enhancers	Thymus	Thymus
6	chr12:46794200-46798800	Enhancers	Fetal Thymus	thymus
7	chr12:46794200-46799000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:46794200-46799000	Enhancers	Osteobl	bone
9	chr12:46794200-46799600	Enhancers	Primary T cells from cord blood	blood
10	chr12:46794400-46797800	Enhancers	HepG2	liver
11	chr12:46794400-46798400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:46794400-46798800	Enhancers	Colon Smooth Muscle	Colon
13	chr12:46794400-46798800	Enhancers	NHDF-Ad	bronchial
14	chr12:46794400-46799000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:46794400-46799000	Enhancers	HSMMtube	muscle
16	chr12:46794400-46799000	Enhancers	NHLF	lung
17	chr12:46794600-46798600	Enhancers	Fetal Stomach	stomach
18	chr12:46794600-46798800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:46794600-46798800	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:46794800-46798800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr12:46794800-46802200	Weak transcription	Placenta	Placenta
22	chr12:46795000-46798200	Enhancers	Fetal Heart	heart
23	chr12:46795000-46809200	Weak transcription	Esophagus	oesophagus
24	chr12:46795200-46798400	Enhancers	Fetal Lung	lung
25	chr12:46795200-46798400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr12:46795400-46797800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:46795400-46797800	Enhancers	Stomach Mucosa	stomach
28	chr12:46795400-46798200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:46795400-46798200	Weak transcription	Left Ventricle	heart
30	chr12:46795400-46798400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:46795400-46798400	Weak transcription	Spleen	Spleen
32	chr12:46795400-46798600	Enhancers	HSMM	muscle
33	chr12:46795600-46798200	Weak transcription	Psoas Muscle	Psoas
34	chr12:46795600-46798400	Weak transcription	Right Atrium	heart
35	chr12:46795600-46798600	Enhancers	HMEC	breast
36	chr12:46795800-46797800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr12:46795800-46797800	Enhancers	A549	lung
38	chr12:46795800-46798200	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:46795800-46798600	Enhancers	HUVEC	blood vessel
40	chr12:46795800-46800200	Weak transcription	Adipose Nuclei	Adipose
41	chr12:46795800-46800200	Weak transcription	K562	blood
42	chr12:46795800-46804000	Weak transcription	Right Ventricle	heart
43	chr12:46796000-46798600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr12:46796000-46799200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:46796200-46797800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:46796200-46798000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr12:46796200-46798800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:46796600-46798000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:46796600-46798000	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr12:46796600-46798400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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