Variant report

Variant	rs2329485
Chromosome Location	chr7:50675760-50675761
allele	A/T
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	chr7:50675309-50675886	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50671344..50672957-chr7:50675090..50677359,2	K562	blood:

Variant related genes	Relation type
GRB10	TF binding region

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11761328	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11770199	1.00[JPT][hapmap]
rs11772525	0.94[CEU][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2329486	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2715126	0.87[AFR][1000 genomes]
rs2715129	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41298761	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4947411	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947714	1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62447499	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62447500	0.94[ASN][1000 genomes]
rs62447501	0.82[EUR][1000 genomes]
rs6593030	0.89[EUR][1000 genomes]
rs7810039	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs963161	1.00[JPT][hapmap]

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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv1021753	chr7:50671350-50694457	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020791	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv606906	chr7:50673666-50694457	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50652400-50687400	Weak transcription	Right Atrium	heart
2	chr7:50654000-50680000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:50657200-50678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:50658200-50675800	Strong transcription	HSMMtube	muscle
5	chr7:50658200-50682000	Weak transcription	Colonic Mucosa	Colon
6	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
9	chr7:50659000-50678600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:50659200-50677000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:50659200-50680000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:50659200-50683600	Weak transcription	Small Intestine	intestine
13	chr7:50659400-50675800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:50659800-50679000	Weak transcription	NHDF-Ad	bronchial
15	chr7:50659800-50687800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:50660600-50688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:50663800-50675800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:50664600-50675800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:50664800-50675800	Strong transcription	Adipose Nuclei	Adipose
21	chr7:50665000-50688000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:50666600-50677600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:50666600-50680400	Weak transcription	Brain Angular Gyrus	brain
24	chr7:50667000-50686200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:50667200-50682000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:50667600-50681600	Weak transcription	HepG2	liver
27	chr7:50668000-50689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:50668600-50675800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:50668600-50676200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:50669000-50677200	Weak transcription	Stomach Mucosa	stomach
31	chr7:50669600-50676000	Strong transcription	Osteobl	bone
32	chr7:50670000-50676200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr7:50670600-50676200	Strong transcription	NH-A	brain
34	chr7:50671000-50676000	Strong transcription	Liver	Liver
35	chr7:50671000-50678200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:50671200-50676000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:50671200-50687400	Weak transcription	Fetal Brain Male	brain
38	chr7:50671400-50675800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:50671400-50676000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:50671400-50676800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:50671400-50680400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:50671600-50675800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr7:50671600-50696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:50672200-50677800	Strong transcription	HUVEC	blood vessel
45	chr7:50672400-50678200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:50672600-50681800	Weak transcription	Fetal Heart	heart
47	chr7:50673000-50677800	Weak transcription	NHEK	skin
48	chr7:50673200-50681800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:50673600-50675800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr7:50674000-50677800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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