Variant report

Variant	rs1947442
Chromosome Location	chr4:91872431-91872432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10005295	1.00[CHB][hapmap]
rs11097281	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1454334	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1869538	0.85[CEU][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879555	chr4:91743538-91967602	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv491945	chr4:91753638-92240582	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv10533	chr4:91842776-91935992	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv594834	chr4:91866171-91872431	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1947442	GNG11	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91871400-91872600	Flanking Active TSS	HUVEC	blood vessel
2	chr4:91871600-91872600	Enhancers	NHEK	skin
3	chr4:91871800-91872600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr4:91871800-91872600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:91871800-91872600	Active TSS	A549	lung
6	chr4:91871800-91872600	Enhancers	NH-A	brain
7	chr4:91871800-91872800	Enhancers	HMEC	breast
8	chr4:91871800-91879600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:91872000-91872600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:91872000-91872600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:91872000-91872800	Weak transcription	Fetal Lung	lung
12	chr4:91872000-91873200	Enhancers	Hela-S3	cervix
13	chr4:91872000-91879600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:91872200-91872600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:91872200-91872600	Enhancers	Fetal Kidney	kidney
16	chr4:91872200-91878200	Weak transcription	Fetal Intestine Small	intestine
17	chr4:91872200-91879000	Weak transcription	Fetal Intestine Large	intestine
18	chr4:91872200-91885600	Weak transcription	Pancreatic Islets	Pancreatic Islet

Quick Search:

Input of quick search could be:

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

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