Variant report

Variant	rs10757272
Chromosome Location	chr9:22088260-22088261
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:22080093..22089919-chr9:22099951..22109614,29	MCF-7	breast:
2	chr9:21835433..21837230-chr9:22087547..22089393,2	MCF-7	breast:
3	chr9:22084984..22089844-chr9:22117518..22121243,5	MCF-7	breast:
4	chr9:22051930..22054348-chr9:22086021..22088331,2	MCF-7	breast:
5	chr9:22079850..22083849-chr9:22087242..22090618,5	MCF-7	breast:
6	chr9:21801904..21804122-chr9:22086706..22088895,2	MCF-7	breast:
7	chr9:22082310..22089949-chr9:22236353..22239754,11	MCF-7	breast:
8	chr9:21993116..21995180-chr9:22087072..22089483,2	MCF-7	breast:
9	chr9:22078947..22090885-chr9:22096375..22111093,52	MCF-7	breast:
10	chr9:22085206..22088406-chr9:22135474..22138114,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000099810	Chromatin interaction
ENSG00000264545	Chromatin interaction
ENSG00000147889	Chromatin interaction
ENSG00000240498	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1004638	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10116277	1.00[CEU][hapmap];0.87[GIH][hapmap];0.86[EUR][1000 genomes]
rs10217586	0.82[EUR][1000 genomes]
rs10511701	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10733376	0.90[EUR][1000 genomes]
rs10738606	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10738607	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10738608	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10738609	0.92[EUR][1000 genomes]
rs10738610	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs10757273	0.92[ASN][1000 genomes]
rs10757274	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10757275	0.95[EUR][1000 genomes]
rs10757277	0.89[EUR][1000 genomes]
rs10757278	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs10757279	0.89[EUR][1000 genomes]
rs10811654	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10811656	0.86[EUR][1000 genomes]
rs1333040	0.83[GIH][hapmap]
rs1333042	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1333043	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1333046	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs1333047	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1333048	0.96[CEU][hapmap];0.80[MEX][hapmap];0.81[MKK][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs1333049	0.89[CEU][hapmap];0.82[GIH][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes]
rs1412834	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1537370	1.00[CEU][hapmap];0.87[GIH][hapmap];0.86[EUR][1000 genomes]
rs1537371	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1537373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1537374	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1537375	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1537376	0.90[EUR][1000 genomes]
rs1556516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1970112	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2210538	0.83[EUR][1000 genomes]
rs2383206	0.90[EUR][1000 genomes]
rs2383207	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2891168	1.00[CEU][hapmap];0.89[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4977574	1.00[CEU][hapmap];0.89[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4977575	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4977757	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6475606	1.00[CEU][hapmap];0.87[GIH][hapmap];0.86[EUR][1000 genomes]
rs6475609	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7341786	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7341791	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7857118	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7857345	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7859362	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7859727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs944797	0.90[EUR][1000 genomes]
rs9644860	0.82[EUR][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	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

Variant related diseases (count:1)

Disease	PMID	Source
Intracranial aneurysm	22286173	GWAS catalog

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22080600-22089400	Weak transcription	Dnd41	blood
2	chr9:22080600-22098600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:22085400-22088400	Weak transcription	HSMMtube	muscle
4	chr9:22085600-22088600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:22085800-22088400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:22085800-22088400	Weak transcription	NHEK	skin
7	chr9:22085800-22089400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:22086000-22088400	Weak transcription	Hela-S3	cervix
9	chr9:22086000-22097200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:22086600-22089200	Enhancers	Fetal Intestine Small	intestine
11	chr9:22086800-22089800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr9:22087800-22089600	Enhancers	Fetal Intestine Large	intestine
13	chr9:22088000-22088600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:22088000-22089000	Enhancers	Stomach Mucosa	stomach
15	chr9:22088200-22088600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr9:22088200-22089200	Enhancers	HMEC	breast

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