Variant report

Variant	rs62447500
Chromosome Location	chr7:50668307-50668308
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	chr7:50668174-50669199	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50659625..50664974-chr7:50665281..50668412,7	K562	blood:

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11761328	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11772525	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2329485	0.94[ASN][1000 genomes]
rs2329486	0.94[ASN][1000 genomes]
rs41298761	1.00[ASN][1000 genomes]
rs4947411	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4947714	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62447499	0.94[ASN][1000 genomes]
rs62447501	0.87[EUR][1000 genomes]
rs7810039	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50652000-50671800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:50652400-50687400	Weak transcription	Right Atrium	heart
3	chr7:50653200-50672400	Weak transcription	NHEK	skin
4	chr7:50653400-50670600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:50654000-50680000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:50657200-50670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:50657200-50678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:50657800-50670600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:50658200-50675800	Strong transcription	HSMMtube	muscle
10	chr7:50658200-50682000	Weak transcription	Colonic Mucosa	Colon
11	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:50658400-50670800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr7:50658600-50668600	Strong transcription	Liver	Liver
14	chr7:50658600-50670800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:50658800-50669200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:50658800-50669600	Weak transcription	HSMM	muscle
17	chr7:50658800-50671000	Weak transcription	Fetal Muscle Leg	muscle
18	chr7:50658800-50673200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
21	chr7:50659000-50668600	Weak transcription	Brain Substantia Nigra	brain
22	chr7:50659000-50678600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:50659200-50672200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr7:50659200-50677000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:50659200-50680000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:50659200-50683600	Weak transcription	Small Intestine	intestine
27	chr7:50659400-50675800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:50659600-50675600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:50659800-50671000	Weak transcription	Fetal Intestine Large	intestine
30	chr7:50659800-50679000	Weak transcription	NHDF-Ad	bronchial
31	chr7:50659800-50687800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:50660000-50675600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr7:50660400-50673400	Weak transcription	Fetal Brain Female	brain
35	chr7:50660600-50668800	Strong transcription	Pancreas	Pancrea
36	chr7:50660600-50670800	Weak transcription	Brain Germinal Matrix	brain
37	chr7:50660600-50688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:50660800-50673400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr7:50661000-50670000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:50661000-50670800	Weak transcription	Brain Anterior Caudate	brain
41	chr7:50661000-50673600	Weak transcription	Esophagus	oesophagus
42	chr7:50661200-50670800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:50661600-50668600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:50661600-50668600	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:50662000-50671000	Weak transcription	NHLF	lung
46	chr7:50662200-50671000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:50662400-50670800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:50662800-50669600	Weak transcription	Psoas Muscle	Psoas
49	chr7:50662800-50671400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:50663000-50671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links