Variant report

Variant	rs7998992
Chromosome Location	chr13:94420017-94420018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73547588	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9589817	0.82[AMR][1000 genomes]
rs9589823	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948714	chr13:94100104-94699435	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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
3	nsv1045230	chr13:94277683-94764671	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv933758	chr13:94299302-94421378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv916694	chr13:94360053-94423063	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	nsv832684	chr13:94379507-94550853	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1130	chr13:94410849-94455628	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94415800-94423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:94416600-94429000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:94419200-94420200	Enhancers	Fetal Heart	heart
4	chr13:94419200-94420600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr13:94419400-94420800	Enhancers	Fetal Lung	lung
6	chr13:94419400-94420800	Enhancers	A549	lung
7	chr13:94419400-94421000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr13:94419400-94421400	Enhancers	Fetal Intestine Small	intestine
9	chr13:94419600-94422800	Weak transcription	Aorta	Aorta
10	chr13:94419800-94420200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:94419800-94420200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr13:94419800-94420600	Flanking Active TSS	Liver	Liver
13	chr13:94419800-94421000	Enhancers	Fetal Kidney	kidney
14	chr13:94419800-94421200	Enhancers	Ovary	ovary
15	chr13:94419800-94423800	Enhancers	Fetal Stomach	stomach
16	chr13:94420000-94420800	Flanking Active TSS	HepG2	liver
17	chr13:94420000-94421000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr13:94420000-94423200	Enhancers	Fetal Intestine Large	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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