Variant report

Variant	rs6951528
Chromosome Location	chr7:150809164-150809165
allele	A/C
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	TAL1	chr7:150809044-150809216	K562	blood:	n/a	n/a
2	CEBPD	chr7:150808833-150809300	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150807803..150810009-chr7:150811928..150814974,4	MCF-7	breast:
2	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
3	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:
4	chr7:150756739..150757952-chr7:150807848..150809287,3	MCF-7	breast:

Variant related genes	Relation type
AGAP3	TF binding region
ENSG00000133612	Chromatin interaction
ENSG00000164889	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10244332	0.86[GIH][hapmap]
rs10273337	0.86[GIH][hapmap]
rs10279252	0.84[JPT][hapmap]
rs1036061	0.86[GIH][hapmap]
rs1077122	0.82[EUR][1000 genomes]
rs10952302	0.95[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs34710456	0.92[EUR][1000 genomes]
rs4440544	0.84[JPT][hapmap]
rs4517031	0.84[JPT][hapmap]
rs4725389	0.85[GIH][hapmap]
rs4725390	0.84[JPT][hapmap]
rs4725391	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs4725988	0.88[GIH][hapmap]
rs4725996	0.88[CHB][hapmap]
rs6945607	0.82[EUR][1000 genomes]
rs6957724	0.88[GIH][hapmap]
rs72617355	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
6	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
8	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
9	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
12	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
13	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6951528	ATP6V0E2	cis	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
2	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
3	chr7:150792600-150810200	Weak transcription	Esophagus	oesophagus
4	chr7:150797400-150810200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:150799000-150811200	Weak transcription	Right Atrium	heart
6	chr7:150802200-150810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:150802200-150810200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:150802200-150810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:150802400-150810600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
11	chr7:150802800-150810200	Weak transcription	HUVEC	blood vessel
12	chr7:150803200-150810000	Weak transcription	NH-A	brain
13	chr7:150803800-150810400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:150804000-150810200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:150806200-150809200	Weak transcription	HepG2	liver
16	chr7:150806200-150810400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:150806400-150810200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:150806800-150810200	Weak transcription	Osteobl	bone
19	chr7:150807000-150810400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:150807200-150809200	Genic enhancers	Fetal Stomach	stomach
21	chr7:150807200-150809600	Enhancers	Stomach Mucosa	stomach
22	chr7:150807200-150810600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:150807400-150809800	Enhancers	Fetal Heart	heart
24	chr7:150807400-150811000	Enhancers	Pancreas	Pancrea
25	chr7:150807800-150809200	Enhancers	Fetal Lung	lung
26	chr7:150808000-150810200	Weak transcription	HSMMtube	muscle
27	chr7:150808000-150811000	Weak transcription	Colonic Mucosa	Colon
28	chr7:150808000-150811200	Enhancers	Gastric	stomach
29	chr7:150808000-150814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:150808200-150810200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:150808200-150810200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:150808200-150810600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:150808200-150810600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:150808200-150810600	Weak transcription	NHDF-Ad	bronchial
35	chr7:150808200-150811000	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:150808200-150811000	Weak transcription	Left Ventricle	heart
37	chr7:150808200-150811600	Weak transcription	Ovary	ovary
38	chr7:150808200-150813600	Weak transcription	Liver	Liver
39	chr7:150808200-150815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:150808400-150809600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:150808400-150809800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:150808400-150809800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:150808400-150810600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:150808400-150810600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr7:150808400-150810800	Genic enhancers	K562	blood
46	chr7:150808400-150811200	Weak transcription	Adipose Nuclei	Adipose
47	chr7:150808400-150812800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:150808600-150809200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:150808600-150809200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr7:150808600-150809400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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