Variant report

Variant	rs6711327
Chromosome Location	chr2:189717652-189717653
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10191859	1.00[EUR][1000 genomes]
rs10201930	1.00[EUR][1000 genomes]
rs10497696	1.00[EUR][1000 genomes]
rs13306260	1.00[EUR][1000 genomes]
rs13425379	1.00[EUR][1000 genomes]
rs16830983	1.00[EUR][1000 genomes]
rs16830984	1.00[EUR][1000 genomes]
rs28413125	1.00[EUR][1000 genomes]
rs41263781	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41272837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61112771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6741242	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6752549	1.00[EUR][1000 genomes]
rs73047634	1.00[EUR][1000 genomes]
rs7567045	1.00[EUR][1000 genomes]
rs7600151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7607614	1.00[EUR][1000 genomes]
rs8224	1.00[EUR][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	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189714600-189719200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:189715800-189718600	Weak transcription	Fetal Stomach	stomach
3	chr2:189715800-189719000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:189716400-189719400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:189717000-189719200	Enhancers	NHDF-Ad	bronchial
6	chr2:189717400-189718200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:189717400-189718800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:189717400-189719200	Enhancers	NHLF	lung
9	chr2:189717600-189718200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:189717600-189718200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:189717600-189718400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:189717600-189718400	Enhancers	Osteobl	bone
13	chr2:189717600-189719000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:189717600-189719000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:189717600-189719200	Enhancers	Fetal Lung	lung

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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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