Variant report

Variant	rs7996693
Chromosome Location	chr13:94885765-94885766
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

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]
rs7319816	1.00[EUR][1000 genomes]
rs7323891	1.00[EUR][1000 genomes]
rs7326476	1.00[EUR][1000 genomes]
rs7992328	1.00[EUR][1000 genomes]
rs9301938	1.00[EUR][1000 genomes]
rs9584186	1.00[EUR][1000 genomes]
rs9584188	1.00[EUR][1000 genomes]
rs9584189	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[EUR][1000 genomes]
rs9589906	1.00[EUR][1000 genomes]
rs9589908	1.00[EUR][1000 genomes]
rs9589955	1.00[EUR][1000 genomes]
rs9743359	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94867800-94888000	Weak transcription	Fetal Intestine Small	intestine
2	chr13:94884800-94885800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:94884800-94887200	Enhancers	HSMM	muscle
4	chr13:94885000-94886600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:94885000-94886600	Enhancers	NHDF-Ad	bronchial
6	chr13:94885200-94886000	Active TSS	Brain Anterior Caudate	brain
7	chr13:94885200-94886200	Enhancers	HSMMtube	muscle
8	chr13:94885200-94886400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:94885200-94886600	Enhancers	NH-A	brain
10	chr13:94885400-94885800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr13:94885400-94885800	Flanking Active TSS	Osteobl	bone
12	chr13:94885400-94886000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:94885400-94886200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:94885400-94886400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:94885600-94885800	Active TSS	Brain Cingulate Gyrus	brain
16	chr13:94885600-94886000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:94885600-94886000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr13:94885600-94886000	Active TSS	Brain Hippocampus Middle	brain
19	chr13:94885600-94886000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr13:94885600-94886000	Enhancers	Psoas Muscle	Psoas
21	chr13:94885600-94886400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:94885600-94886400	Enhancers	Colon Smooth Muscle	Colon
23	chr13:94885600-94886400	Flanking Active TSS	A549	lung
24	chr13:94885600-94886400	Enhancers	Hela-S3	cervix

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