Variant report

Variant	rs3114953
Chromosome Location	chr4:121793332-121793333
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2251270	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2597553	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2667192	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs343173	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs343176	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs343177	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs343183	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs343191	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6828945	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6846000	0.80[AMR][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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv4490	chr4:121782939-121801246	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121784200-121798000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:121787600-121796000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:121791400-121795800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:121791400-121796000	Weak transcription	NHDF-Ad	bronchial
5	chr4:121791400-121796400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:121791400-121803200	Weak transcription	Fetal Stomach	stomach
7	chr4:121792000-121793600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:121792000-121795200	Weak transcription	Fetal Lung	lung
9	chr4:121792000-121796000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:121792000-121796000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:121792000-121796000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:121792000-121796000	Weak transcription	Ovary	ovary
13	chr4:121792000-121796000	Weak transcription	Pancreas	Pancrea
14	chr4:121792200-121796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:121792400-121800000	Weak transcription	Aorta	Aorta

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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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