Variant report

Variant	rs2949079
Chromosome Location	chr2:36214637-36214638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17403094	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4670134	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6543991	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6714561	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6759368	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs833759	0.94[EUR][1000 genomes]
rs833771	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs833772	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs938023	0.84[ASN][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	nsv949472	chr2:35709203-36447481	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1009123	chr2:35728920-36412880	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv535639	chr2:35728920-36412880	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv998313	chr2:35731937-36422991	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv535640	chr2:35731937-36422991	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv833781	chr2:36082472-36235562	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv508139	chr2:36182790-36220720	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv581460	chr2:36186152-36331798	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv2678	chr2:36190997-36229827	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv873872	chr2:36204777-36345738	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36213800-36214800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:36214000-36215200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:36214200-36215000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:36214200-36215000	Enhancers	Brain Anterior Caudate	brain
5	chr2:36214200-36215400	Enhancers	Fetal Intestine Large	intestine
6	chr2:36214400-36214800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:36214400-36214800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:36214400-36214800	Enhancers	Small Intestine	intestine
9	chr2:36214400-36215000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:36214400-36215000	Flanking Active TSS	HepG2	liver
11	chr2:36214600-36215000	Enhancers	Esophagus	oesophagus
12	chr2:36214600-36215000	Active TSS	A549	lung
13	chr2:36214600-36215400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:36214600-36215400	Enhancers	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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