Variant report

Variant	rs7992328
Chromosome Location	chr13:94771381-94771382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10162061	1.00[EUR][1000 genomes]
rs11840269	1.00[EUR][1000 genomes]
rs11840781	1.00[EUR][1000 genomes]
rs11843735	1.00[EUR][1000 genomes]
rs16949687	1.00[EUR][1000 genomes]
rs28429747	1.00[EUR][1000 genomes]
rs59941228	1.00[EUR][1000 genomes]
rs731752	1.00[EUR][1000 genomes]
rs7323891	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7326476	1.00[EUR][1000 genomes]
rs7996693	1.00[EUR][1000 genomes]
rs9301938	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9584186	1.00[EUR][1000 genomes]
rs9584188	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9584189	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589885	1.00[EUR][1000 genomes]
rs9589903	1.00[EUR][1000 genomes]
rs9589904	1.00[EUR][1000 genomes]
rs9589905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589906	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9589908	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9743359	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933807	chr13:94187158-94845505	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv948455	chr13:94451368-94988900	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv430599	chr13:94699399-94934930	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv933263	chr13:94711183-94897124	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv900924	chr13:94714981-94819307	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1051276	chr13:94745995-94872494	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv526048	chr13:94767311-94880219	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv562754	chr13:94770794-94895346	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94765200-94773800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:94766600-94773200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr13:94766800-94771600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:94767800-94771800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:94768000-94785800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:94770000-94771400	Enhancers	Liver	Liver
7	chr13:94770400-94771600	Enhancers	Fetal Intestine Small	intestine
8	chr13:94770800-94771400	Enhancers	HepG2	liver
9	chr13:94770800-94771800	Enhancers	Fetal Intestine Large	intestine
10	chr13:94771000-94771400	Enhancers	Duodenum Mucosa	Duodenum
11	chr13:94771000-94771600	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr13:94771000-94771600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr13:94771200-94772200	Weak transcription	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links