Variant report

Variant	rs10263996
Chromosome Location	chr7:122487122-122487123
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	chr7:122486614-122487191	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:122484843..122489106-chr7:122489595..122492470,4	MCF-7	breast:
2	chr7:122471973..122475729-chr7:122484629..122488935,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227573	TF binding region
ENSG00000227573	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10228314	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs10234934	1.00[AFR][1000 genomes]
rs10236319	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10261207	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10261921	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10265082	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11971752	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11977146	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11981227	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6963770	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs6969464	1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7796794	1.00[AFR][1000 genomes]
rs7808554	1.00[YRI][hapmap];0.90[AFR][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	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532181	chr7:122291571-122684719	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv532218	chr7:122360779-122934247	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1033520	chr7:122366544-122992937	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv949059	chr7:122386967-123066042	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv948531	chr7:122386967-123191974	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv949180	chr7:122386967-123237070	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv524192	chr7:122403421-123218522	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv498124	chr7:122412493-122986259	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122465400-122496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:122479200-122488000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:122481000-122493800	Weak transcription	Aorta	Aorta
4	chr7:122482200-122488200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:122482400-122489800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:122483600-122490000	Enhancers	Fetal Lung	lung
7	chr7:122484200-122488200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:122484200-122488200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:122484200-122489400	Weak transcription	Ovary	ovary
10	chr7:122484200-122489800	Weak transcription	Pancreas	Pancrea
11	chr7:122484200-122493800	Weak transcription	Lung	lung
12	chr7:122484400-122487800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:122484400-122488000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:122484400-122495600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:122484400-122495800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:122485200-122496200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:122486400-122487400	Enhancers	HUVEC	blood vessel
18	chr7:122486600-122487200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:122486800-122487200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:122486800-122487200	Enhancers	Gastric	stomach
21	chr7:122486800-122487200	Enhancers	Stomach Mucosa	stomach
22	chr7:122486800-122487400	Enhancers	Left Ventricle	heart
23	chr7:122486800-122489600	Enhancers	HepG2	liver

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