Variant report

Variant	rs10965253
Chromosome Location	chr9:22136687-22136688
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22103217..22103971-chr9:22136513..22137057,2	MCF-7	breast:
2	chr9:22105576..22108969-chr9:22134312..22138270,4	MCF-7	breast:
3	chr9:22004432..22007311-chr9:22132091..22136964,5	MCF-7	breast:
4	chr9:22133587..22139389-chr9:22236165..22240719,9	MCF-7	breast:
5	chr9:22117118..22121296-chr9:22132550..22137842,5	MCF-7	breast:
6	chr9:21994827..21996468-chr9:22135173..22136965,2	MCF-7	breast:
7	chr9:22133614..22136264-chr9:22136467..22138356,2	MCF-7	breast:
8	chr9:22085206..22088406-chr9:22135474..22138114,4	MCF-7	breast:
9	chr9:22003756..22006573-chr9:22135185..22137660,2	MCF-7	breast:
10	chr9:22134724..22142146-chr9:22236106..22241744,12	MCF-7	breast:
11	chr9:22136445..22138835-chr9:22155495..22157878,3	MCF-7	breast:
12	chr9:22118293..22119936-chr9:22134631..22137538,2	MCF-7	breast:
13	chr9:22134989..22139400-chr9:22207897..22213962,14	MCF-7	breast:
14	chr9:22106401..22111630-chr9:22133940..22138604,9	MCF-7	breast:
15	chr9:22131413..22138789-chr9:22206819..22215785,18	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236921	Chromatin interaction
ENSG00000266446	Chromatin interaction
ENSG00000147883	Chromatin interaction
ENSG00000240498	Chromatin interaction
ENSG00000147889	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10965239	1.00[EUR][1000 genomes]
rs10965249	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10965251	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10965252	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1575974	1.00[JPT][hapmap]
rs3731249	1.00[CHB][hapmap]
rs72655467	1.00[AMR][1000 genomes];1.00[EUR][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	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1029889	chr9:22118046-22161828	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv892749	chr9:22125913-22244280	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr9:22132400-22140800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:22133600-22137200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:22134000-22137800	Enhancers	HMEC	breast
4	chr9:22134400-22137600	Enhancers	NHEK	skin
5	chr9:22134600-22137200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:22135000-22137000	Genic enhancers	A549	lung
7	chr9:22135000-22137800	Enhancers	NH-A	brain
8	chr9:22135200-22137800	Enhancers	HSMM	muscle
9	chr9:22135200-22138400	Enhancers	HSMMtube	muscle
10	chr9:22135400-22136800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:22135600-22137400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr9:22135600-22138400	Enhancers	Hela-S3	cervix
13	chr9:22135600-22141600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:22135800-22137600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:22136200-22137200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:22136200-22137400	Enhancers	Osteobl	bone
17	chr9:22136400-22137200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:22136400-22137200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:22136400-22137400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:22136600-22137000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:22136600-22137000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:22136600-22137200	Enhancers	NHDF-Ad	bronchial
23	chr9:22136600-22137400	Enhancers	NHLF	lung

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