Variant report

Variant	rs10962630
Chromosome Location	chr9:16833797-16833798
allele	C/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	chr9:16833763-16833835	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:16833151..16834904-chr9:16839778..16842584,2	MCF-7	breast:

Variant related genes	Relation type
BNC2	TF binding region

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

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

rs_ID	r²[population]
rs10810638	0.92[CEU][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10962623	0.86[CEU][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10962626	0.96[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10962628	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10962629	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11788101	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11789463	0.82[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34790477	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36067353	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3936215	0.85[CEU][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3936216	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7024447	0.96[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7863196	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892651	chr9:16816755-16869240	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16829200-16852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:16829400-16836400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:16829400-16839800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:16829800-16835600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr9:16829800-16864200	Weak transcription	NH-A	brain
6	chr9:16830600-16834400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:16830800-16834400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:16831000-16834400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:16831000-16834400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:16831000-16837400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:16831000-16859600	Weak transcription	HSMM	muscle
12	chr9:16831200-16852600	Weak transcription	Fetal Lung	lung
13	chr9:16831200-16863400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:16831200-16864400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:16831400-16835800	Weak transcription	Osteobl	bone
16	chr9:16831400-16836400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:16831400-16837600	Weak transcription	Colon Smooth Muscle	Colon
18	chr9:16831800-16834400	Weak transcription	NHDF-Ad	bronchial
19	chr9:16832000-16834400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr9:16832800-16834600	Enhancers	Fetal Intestine Small	intestine
21	chr9:16833000-16833800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:16833000-16834800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr9:16833200-16833800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:16833200-16833800	Enhancers	NHLF	lung
25	chr9:16833400-16833800	Enhancers	Fetal Muscle Leg	muscle
26	chr9:16833400-16834000	Enhancers	Fetal Stomach	stomach
27	chr9:16833400-16834200	Enhancers	Ovary	ovary
28	chr9:16833400-16834800	Enhancers	Fetal Intestine Large	intestine
29	chr9:16833600-16833800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:16833600-16834000	Enhancers	Rectal Smooth Muscle	rectum
31	chr9:16833600-16834000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr9:16833600-16834200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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