Variant report

Variant	rs343199
Chromosome Location	chr4:121797831-121797832
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11098590	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098591	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13111620	1.00[CHB][hapmap]
rs13142907	1.00[CHB][hapmap]
rs13147610	1.00[CHB][hapmap]
rs1450460	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1551079	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168224	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168225	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17051273	1.00[JPT][hapmap]
rs17051279	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17051281	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2167204	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2390060	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667195	0.95[YRI][hapmap];0.96[AFR][1000 genomes]
rs28611188	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3114956	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115311	0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs3115316	0.97[AFR][1000 genomes]
rs343167	0.95[YRI][hapmap];0.96[AFR][1000 genomes]
rs343168	0.95[YRI][hapmap];0.97[AFR][1000 genomes]
rs343169	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs343170	0.84[YRI][hapmap];0.92[AFR][1000 genomes]
rs343171	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343172	0.87[CEU][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs343193	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343196	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4274874	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72923591	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7661193	1.00[CHB][hapmap]
rs7681598	0.82[JPT][hapmap]

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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121784200-121798000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:121791400-121803200	Weak transcription	Fetal Stomach	stomach
3	chr4:121792400-121800000	Weak transcription	Aorta	Aorta
4	chr4:121796400-121824400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:121796600-121798000	Weak transcription	Fetal Intestine Large	intestine
6	chr4:121796600-121802000	Weak transcription	NHDF-Ad	bronchial
7	chr4:121796600-121803200	Weak transcription	Pancreas	Pancrea
8	chr4:121796800-121803200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:121796800-121808400	Weak transcription	Left Ventricle	heart
10	chr4:121797000-121798200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:121797000-121798400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:121797000-121823800	Weak transcription	Osteobl	bone
13	chr4:121797400-121798600	Weak transcription	Ovary	ovary
14	chr4:121797400-121799000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:121797400-121802000	Weak transcription	Fetal Lung	lung
16	chr4:121797600-121798600	Enhancers	Rectal Mucosa Donor 29	rectum

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