Variant report

Variant	rs1020422
Chromosome Location	chr6:55639619-55639620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10948953	0.91[JPT][hapmap]
rs228146	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs228148	0.94[YRI][hapmap];0.88[AFR][1000 genomes]
rs228149	0.94[YRI][hapmap];0.88[AFR][1000 genomes]
rs2397190	0.91[JPT][hapmap]
rs3798845	0.91[JPT][hapmap]
rs3798848	0.91[JPT][hapmap]

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	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1026411	chr6:55372845-55653498	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv885909	chr6:55539010-55674338	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1019228	chr6:55608688-55653498	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2752670	chr6:55614978-55781605	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv885910	chr6:55628283-55684300	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv603164	chr6:55631762-55674338	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	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	chr6:55618200-55672400	Weak transcription	Placenta	Placenta
2	chr6:55625400-55646600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:55637200-55639800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr6:55638800-55640000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:55638800-55640000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr6:55638800-55640000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:55639000-55640000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:55639000-55640000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:55639000-55641400	Enhancers	Fetal Lung	lung
10	chr6:55639000-55646800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:55639200-55640000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:55639400-55639800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:55639400-55640000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:55639400-55640000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:55639400-55640000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:55639600-55640000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr6:55639600-55640000	Enhancers	Hela-S3	cervix
18	chr6:55639600-55641000	Enhancers	Fetal Heart	heart

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

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