Variant report

Variant	rs2513006
Chromosome Location	chr11:86435787-86435788
allele	A/C
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	chr11:86435302-86435904	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255250	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1075702	0.82[ASN][1000 genomes]
rs2433406	0.90[ASN][1000 genomes]
rs2433407	0.88[ASN][1000 genomes]
rs2433408	0.88[ASN][1000 genomes]
rs2433409	0.96[ASN][1000 genomes]
rs2433410	0.94[ASN][1000 genomes]
rs2433411	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2433424	0.93[ASN][1000 genomes]
rs2433425	0.94[ASN][1000 genomes]
rs2433426	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2433427	0.92[ASN][1000 genomes]
rs2433428	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2433429	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2433430	0.84[ASN][1000 genomes]
rs2433431	0.93[ASN][1000 genomes]
rs2433432	0.92[ASN][1000 genomes]
rs2512996	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512997	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512998	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2512999	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513000	0.94[ASN][1000 genomes]
rs2513001	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513003	0.94[ASN][1000 genomes]
rs2513008	0.96[ASN][1000 genomes]
rs2513009	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513010	0.98[ASN][1000 genomes]
rs2513011	0.97[ASN][1000 genomes]
rs2513012	0.97[ASN][1000 genomes]
rs2513018	0.81[ASN][1000 genomes]
rs3096711	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3096714	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4245426	0.80[ASN][1000 genomes]
rs4586194	0.95[ASN][1000 genomes]
rs7108176	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7108300	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7115320	0.83[ASN][1000 genomes]
rs7124794	0.94[ASN][1000 genomes]
rs7129902	0.86[ASN][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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86407000-86451600	Weak transcription	Left Ventricle	heart
2	chr11:86424200-86449800	Weak transcription	Pancreas	Pancrea
3	chr11:86431800-86438200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:86433000-86437200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:86433000-86437200	Weak transcription	NHLF	lung
6	chr11:86433200-86436400	Weak transcription	Hela-S3	cervix
7	chr11:86433400-86436000	Weak transcription	Psoas Muscle	Psoas
8	chr11:86433400-86436600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:86433400-86437200	Weak transcription	NH-A	brain
10	chr11:86433600-86436800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:86433800-86437200	Weak transcription	Osteobl	bone
12	chr11:86433800-86437400	Weak transcription	NHDF-Ad	bronchial
13	chr11:86434800-86446400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:86435200-86439000	Enhancers	HMEC	breast
15	chr11:86435400-86436600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:86435600-86436400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:86435600-86436600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:86435600-86436600	Weak transcription	NHEK	skin

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