Variant report

Variant	rs17167640
Chromosome Location	chr7:13950360-13950361
allele	C/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	chr7:13947777-13951009	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	chr7:13929008..13930898-chr7:13949066..13950636,2	K562	blood:

Variant related genes	Relation type
ETV1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10486066	0.80[CEU][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11508467	0.85[AMR][1000 genomes]
rs17167633	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2237292	0.81[CHB][hapmap];0.83[JPT][hapmap];0.99[ASN][1000 genomes]
rs62454577	0.97[ASN][1000 genomes]
rs67266670	0.86[AMR][1000 genomes]
rs72589660	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7795862	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv887700	chr7:13948517-14042702	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13930800-13951800	Weak transcription	Fetal Kidney	kidney
2	chr7:13930800-13971000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:13932000-13952800	Weak transcription	Adipose Nuclei	Adipose
4	chr7:13933800-13983600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:13934200-13968000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:13934800-13959800	Weak transcription	Pancreas	Pancrea
7	chr7:13935800-13951600	Weak transcription	Aorta	Aorta
8	chr7:13939200-13952200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:13939400-13951200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:13944400-13958600	Weak transcription	NHLF	lung
11	chr7:13945200-13950800	Weak transcription	Fetal Heart	heart
12	chr7:13945600-13974400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:13946200-13951600	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:13946200-13958600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:13946200-13959800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:13946200-13969200	Weak transcription	Liver	Liver
17	chr7:13947400-13951600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr7:13947400-13952800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:13947400-13953000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:13948000-13951200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr7:13948000-13951800	Enhancers	Primary T cells from cord blood	blood
22	chr7:13948000-13951800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:13948000-13951800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:13948000-13952400	Enhancers	Dnd41	blood
25	chr7:13948600-13951800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:13949000-13951000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:13949000-13952600	Weak transcription	NHDF-Ad	bronchial
28	chr7:13949000-13958600	Weak transcription	NH-A	brain
29	chr7:13949000-13959400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:13949000-13969000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:13949200-13950800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:13949200-13950800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:13949200-13951600	Weak transcription	HUVEC	blood vessel
34	chr7:13949200-13952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:13949200-13952600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:13949200-13952800	Weak transcription	Fetal Brain Male	brain
37	chr7:13949200-13954000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:13949200-13958600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:13949200-13958600	Weak transcription	Osteobl	bone
40	chr7:13949200-13959600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:13949200-13969000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:13949200-13969200	Weak transcription	Left Ventricle	heart
43	chr7:13949400-13950800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr7:13949400-13958600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:13949400-13958600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:13949400-13962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:13949600-13950800	Weak transcription	Fetal Lung	lung
48	chr7:13949600-13952400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:13949600-13954000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:13949600-13956200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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