Variant report

Variant	rs691944
Chromosome Location	chr15:50025537-50025538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11639118	1.00[ASN][1000 genomes]
rs11854482	1.00[ASN][1000 genomes]
rs548780	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60130190	1.00[ASN][1000 genomes]
rs62022673	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 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	chr15:50023000-50025600	Enhancers	Colonic Mucosa	Colon
2	chr15:50023000-50025600	Enhancers	Fetal Intestine Small	intestine
3	chr15:50023200-50026200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:50023800-50027400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:50024000-50031400	Weak transcription	Hela-S3	cervix
6	chr15:50024400-50033800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:50024600-50025600	Weak transcription	Fetal Thymus	thymus
8	chr15:50024600-50027400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:50024800-50026600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr15:50025000-50026800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:50025000-50033800	Weak transcription	K562	blood
12	chr15:50025200-50033600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr15:50025200-50033800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:50025400-50026800	Enhancers	Pancreas	Pancrea

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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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