Variant report

Variant	rs2715126
Chromosome Location	chr7:50683678-50683679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50681994..50683696-chr7:50848659..50850969,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10268819	1.00[JPT][hapmap]
rs10499696	1.00[JPT][hapmap]
rs1107743	1.00[JPT][hapmap]
rs11555134	0.87[ASN][1000 genomes]
rs11575282	1.00[JPT][hapmap]
rs11575286	1.00[JPT][hapmap]
rs11575298	1.00[JPT][hapmap]
rs11575313	1.00[JPT][hapmap]
rs11575321	1.00[JPT][hapmap]
rs11575322	1.00[JPT][hapmap]
rs11575342	1.00[JPT][hapmap]
rs11575404	1.00[JPT][hapmap]
rs11575548	1.00[JPT][hapmap]
rs11575553	1.00[JPT][hapmap]
rs11771818	1.00[JPT][hapmap]
rs1349491	1.00[JPT][hapmap]
rs1466163	1.00[JPT][hapmap]
rs17553036	1.00[JPT][hapmap]
rs17553791	1.00[JPT][hapmap]
rs17634717	1.00[JPT][hapmap]
rs17634771	1.00[JPT][hapmap]
rs17634958	1.00[JPT][hapmap]
rs17635123	1.00[JPT][hapmap]
rs2242041	1.00[JPT][hapmap]
rs2329367	1.00[JPT][hapmap]
rs2329485	0.87[AFR][1000 genomes]
rs2329486	0.87[AFR][1000 genomes]
rs2715129	0.97[AFR][1000 genomes]
rs2876830	1.00[JPT][hapmap]
rs3177656	1.00[JPT][hapmap]
rs3807553	1.00[JPT][hapmap]
rs4947406	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv521070	chr7:50681256-50685602	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 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	chr7:50658200-50690400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:50658800-50686800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:50658800-50690000	Weak transcription	Fetal Kidney	kidney
5	chr7:50659800-50687800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:50659800-50697200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:50660600-50688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:50665000-50688000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr7:50667000-50686200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr7:50668000-50689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:50671200-50687400	Weak transcription	Fetal Brain Male	brain
12	chr7:50671600-50696800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:50674200-50694000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:50674200-50709800	Weak transcription	Esophagus	oesophagus
15	chr7:50674400-50699000	Weak transcription	Brain Germinal Matrix	brain
16	chr7:50676800-50686200	Strong transcription	Hela-S3	cervix
17	chr7:50676800-50688200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:50677000-50685800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:50677000-50686800	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:50677000-50687800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:50677000-50696000	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:50677200-50685400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:50677200-50685800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:50677200-50686200	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:50677200-50686200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:50677200-50687200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:50677600-50688000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:50677800-50684200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:50677800-50686400	Strong transcription	Lung	lung
30	chr7:50678000-50684800	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr7:50678800-50683800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:50679000-50685400	Strong transcription	HSMMtube	muscle
33	chr7:50679000-50688200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:50679200-50685800	Strong transcription	NH-A	brain
35	chr7:50679200-50686200	Strong transcription	Fetal Stomach	stomach
36	chr7:50679200-50691600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:50679400-50685000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr7:50679400-50685200	Strong transcription	Osteobl	bone
39	chr7:50679400-50688600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr7:50679600-50684400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr7:50679600-50684600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:50679800-50686600	Weak transcription	NHEK	skin
43	chr7:50680000-50685200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:50680200-50689000	Weak transcription	Psoas Muscle	Psoas
45	chr7:50680200-50695800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:50680600-50683800	Strong transcription	HUVEC	blood vessel
47	chr7:50680800-50684400	Enhancers	Stomach Mucosa	stomach
48	chr7:50680800-50686000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr7:50681000-50686600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr7:50681200-50685000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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