Variant report

Variant	rs12001691
Chromosome Location	chr9:99802596-99802597
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	chr9:99801409-99802675	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:99636633..99638588-chr9:99800511..99803120,2	MCF-7	breast:

Variant related genes	Relation type
CTSV	TF binding region
ENSG00000196597	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs41281916	1.00[AMR][1000 genomes]
rs73549948	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053215	chr9:99483926-99824810	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv428540	chr9:99722815-99863455	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv831662	chr9:99752521-99939231	Bivalent Enhancer Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1824305	chr9:99792208-99806169	Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1821221	chr9:99792208-99811206	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 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	chr9:99802000-99803600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr9:99802000-99804200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:99802000-99807200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:99802000-99807600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:99802000-99808400	Weak transcription	Pancreas	Pancrea
6	chr9:99802200-99802600	Enhancers	Fetal Intestine Large	intestine
7	chr9:99802200-99803000	Weak transcription	Brain Anterior Caudate	brain
8	chr9:99802200-99803600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:99802200-99804000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:99802200-99804000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:99802200-99804400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:99802200-99804400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:99802200-99807000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr9:99802400-99803000	Weak transcription	Fetal Intestine Small	intestine
15	chr9:99802400-99803600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:99802400-99803600	Weak transcription	Placenta	Placenta
17	chr9:99802400-99804000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:99802400-99804200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr9:99802400-99804200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:99802400-99804200	Weak transcription	HMEC	breast
21	chr9:99802400-99807000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:99802400-99807600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:99802400-99807600	Weak transcription	Stomach Mucosa	stomach

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