Variant report

Variant	rs343196
Chromosome Location	chr4:121798766-121798767
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11098590	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098591	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450460	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1551079	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168224	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168225	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051279	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17051281	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2167204	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2390060	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28611188	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3114956	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343169	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs343171	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343172	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs343193	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343199	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274874	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72923591	0.88[EUR][1000 genomes];0.92[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	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	chr4:121791400-121803200	Weak transcription	Fetal Stomach	stomach
2	chr4:121792400-121800000	Weak transcription	Aorta	Aorta
3	chr4:121796400-121824400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:121796600-121802000	Weak transcription	NHDF-Ad	bronchial
5	chr4:121796600-121803200	Weak transcription	Pancreas	Pancrea
6	chr4:121796800-121803200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:121796800-121808400	Weak transcription	Left Ventricle	heart
8	chr4:121797000-121823800	Weak transcription	Osteobl	bone
9	chr4:121797400-121799000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:121797400-121802000	Weak transcription	Fetal Lung	lung
11	chr4:121798000-121798800	Enhancers	Fetal Intestine Large	intestine
12	chr4:121798000-121798800	Enhancers	Fetal Intestine Small	intestine
13	chr4:121798200-121799200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:121798200-121842400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:121798600-121799000	Enhancers	Ovary	ovary

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

what's new

Quick links