Variant report

Variant	rs3847988
Chromosome Location	chr13:30503277-30503278
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1093631	0.96[AFR][1000 genomes]
rs3843678	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs492404	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs503010	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs598473	0.82[EUR][1000 genomes]
rs61947282	0.88[EUR][1000 genomes]
rs61947284	0.88[EUR][1000 genomes]
rs61947285	0.88[EUR][1000 genomes]
rs660017	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7323424	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs927734	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9508593	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr13:30498400-30508000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:30498800-30513200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:30499000-30510000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:30499200-30509000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:30500000-30503400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:30500400-30503400	Weak transcription	Placenta	Placenta
7	chr13:30501000-30503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:30501000-30503600	Weak transcription	Pancreas	Pancrea
9	chr13:30503200-30503600	Enhancers	HMEC	breast
10	chr13:30503200-30503600	Flanking Active TSS	NHEK	skin
11	chr13:30503200-30503800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:30503200-30503800	Enhancers	Esophagus	oesophagus
13	chr13:30503200-30504000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:30503200-30504200	Enhancers	Placenta Amnion	Placenta Amnion

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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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