Variant report

Variant	rs10511700
Chromosome Location	chr9:21801078-21801079
allele	A/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	chr9:21801032-21804663	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:21334810..21337205-chr9:21800546..21802816,2	MCF-7	breast:
2	chr9:21464451..21467378-chr9:21800569..21802345,2	MCF-7	breast:
3	chr9:21796497..21798731-chr9:21800652..21802433,2	MCF-7	breast:
4	chr9:21800247..21802715-chr9:22007122..22010872,3	MCF-7	breast:

Variant related genes	Relation type
MTAP	TF binding region
ENSG00000264545	TF binding region
ENSG00000147883	Chromatin interaction
ENSG00000198642	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10217131	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10217379	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10429489	0.89[ASN][1000 genomes]
rs10511698	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10511699	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10757256	0.86[ASN][1000 genomes]
rs10811616	0.86[ASN][1000 genomes]
rs10811619	0.93[ASN][1000 genomes]
rs10811631	0.86[JPT][hapmap]
rs10965124	0.82[ASN][1000 genomes]
rs10965131	0.86[ASN][1000 genomes]
rs12002238	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12002663	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12004745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12336678	0.88[ASN][1000 genomes]
rs12336734	0.88[ASN][1000 genomes]
rs12337510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12340988	0.93[ASN][1000 genomes]
rs12348845	0.82[ASN][1000 genomes]
rs12379110	0.91[ASN][1000 genomes]
rs12380313	0.84[ASN][1000 genomes]
rs12380373	0.91[ASN][1000 genomes]
rs13286524	0.93[ASN][1000 genomes]
rs13302653	0.93[JPT][hapmap]
rs1414258	0.80[ASN][1000 genomes]
rs1414259	0.80[ASN][1000 genomes]
rs1440992	0.84[ASN][1000 genomes]
rs2039971	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2282245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2383184	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35235093	0.90[ASN][1000 genomes]
rs35526535	0.89[ASN][1000 genomes]
rs3931609	0.92[JPT][hapmap]
rs4326466	0.86[ASN][1000 genomes]
rs4375086	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4543632	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55656405	0.89[ASN][1000 genomes]
rs55883148	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56005066	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56237731	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56339876	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58495931	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59990401	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61258965	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6475575	0.80[ASN][1000 genomes]
rs6475580	0.86[ASN][1000 genomes]
rs6475581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6475582	0.92[ASN][1000 genomes]
rs6475583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6475584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs66506556	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66587337	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66846966	0.83[ASN][1000 genomes]
rs67220270	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7022981	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7029287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7033148	0.88[ASN][1000 genomes]
rs7037277	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7040432	0.82[ASN][1000 genomes]
rs7040632	0.86[EUR][1000 genomes]
rs7040895	0.87[ASN][1000 genomes]
rs7042728	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs7042884	0.80[ASN][1000 genomes]
rs7048433	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7851125	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7859207	1.00[CEU][hapmap]
rs7859886	0.85[ASN][1000 genomes]
rs7860126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7866362	0.80[ASN][1000 genomes]
rs7866533	0.80[ASN][1000 genomes]
rs7866860	0.93[ASN][1000 genomes]
rs7868246	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7869680	0.81[ASN][1000 genomes]
rs7871477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7871631	0.89[ASN][1000 genomes]
rs7874112	0.92[JPT][hapmap]
rs885518	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs9298826	0.93[ASN][1000 genomes]
rs935054	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs945263	0.86[ASN][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	nsv1026981	chr9:21748202-21811697	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21790200-21801200	Weak transcription	NHEK	skin
2	chr9:21796800-21801200	Weak transcription	NHDF-Ad	bronchial
3	chr9:21797400-21801200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:21797400-21801200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:21797800-21801400	Weak transcription	A549	lung
6	chr9:21798000-21801600	Weak transcription	Aorta	Aorta
7	chr9:21800000-21801800	Enhancers	Placenta	Placenta
8	chr9:21800200-21801200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:21800600-21801400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:21801000-21801200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:21801000-21801200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:21801000-21801200	Active TSS	Colon Smooth Muscle	Colon
13	chr9:21801000-21801200	Enhancers	HMEC	breast
14	chr9:21801000-21801400	Enhancers	Osteobl	bone
15	chr9:21801000-21801600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:21801000-21801600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:21801000-21801800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr9:21801000-21802000	Enhancers	Spleen	Spleen
19	chr9:21801000-21803400	Active TSS	Stomach Smooth Muscle	stomach

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