Variant report

Variant	rs10950497
Chromosome Location	chr7:13947289-13947290
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	chr7:13946424-13947670	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:13946657..13948257-chr7:13950013..13952270,2	K562	blood:
2	chr7:13940952..13942572-chr7:13946206..13948609,2	K562	blood:

Variant related genes	Relation type
ETV1	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1557946	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2040882	0.86[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2040883	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2040884	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2040885	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237292	0.83[ASW][hapmap];0.95[GIH][hapmap];0.96[MEX][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2237296	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2282878	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.80[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2282879	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2282881	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299093	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299094	0.91[ASN][1000 genomes]
rs2299096	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66974425	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68041021	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7785849	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv606277	chr7:13907827-13967377	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv606278	chr7:13931182-13959406	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv949467	chr7:13938464-14279074	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13930600-13948200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:13930800-13951800	Weak transcription	Fetal Kidney	kidney
3	chr7:13930800-13971000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:13931000-13947800	Weak transcription	Right Ventricle	heart
5	chr7:13932000-13952800	Weak transcription	Adipose Nuclei	Adipose
6	chr7:13932200-13949600	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:13932200-13949600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:13933800-13983600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:13934200-13947600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:13934200-13968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:13934800-13959800	Weak transcription	Pancreas	Pancrea
12	chr7:13935000-13948400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:13935800-13951600	Weak transcription	Aorta	Aorta
14	chr7:13938200-13948000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:13938400-13948400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:13939200-13952200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:13939400-13951200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:13942000-13948400	Weak transcription	Fetal Brain Female	brain
19	chr7:13942600-13948000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:13943000-13948000	Weak transcription	HUVEC	blood vessel
21	chr7:13943000-13948200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:13943600-13949600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:13944000-13948000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:13944400-13958600	Weak transcription	NHLF	lung
25	chr7:13944600-13947400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:13944600-13948400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:13944600-13948400	Weak transcription	Osteobl	bone
28	chr7:13945000-13947400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:13945000-13948200	Weak transcription	NH-A	brain
30	chr7:13945000-13948400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:13945200-13950800	Weak transcription	Fetal Heart	heart
32	chr7:13945400-13948800	Weak transcription	Fetal Brain Male	brain
33	chr7:13945600-13974400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:13945800-13948800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:13946200-13947800	Weak transcription	NHDF-Ad	bronchial
36	chr7:13946200-13948000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:13946200-13948400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:13946200-13948400	Weak transcription	Left Ventricle	heart
39	chr7:13946200-13949000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:13946200-13951600	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:13946200-13958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:13946200-13959800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:13946200-13969200	Weak transcription	Liver	Liver
44	chr7:13946400-13948400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr7:13946400-13948600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:13946400-13948600	Weak transcription	Fetal Lung	lung
47	chr7:13947200-13948200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:13947200-13949400	Enhancers	Primary T helper cells PMA-I stimulated	--

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