Variant report

Variant	rs343209
Chromosome Location	chr4:121791249-121791250
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12501569	0.85[ASN][1000 genomes]
rs1397772	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1450472	0.88[ASN][1000 genomes]
rs1450473	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1450475	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1511314	0.83[ASN][1000 genomes]
rs171069	0.88[ASN][1000 genomes]
rs180730	0.87[ASN][1000 genomes]
rs180731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1839485	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs184668	0.88[ASN][1000 genomes]
rs184669	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1901136	0.88[ASN][1000 genomes]
rs2034482	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2167207	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2597544	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2597546	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2597547	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2597548	0.83[ASN][1000 genomes]
rs2597552	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2667175	0.88[ASN][1000 genomes]
rs2667176	0.88[ASN][1000 genomes]
rs2667191	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3106313	0.88[ASN][1000 genomes]
rs3114955	0.88[ASN][1000 genomes]
rs3115312	0.88[ASN][1000 genomes]
rs3115314	0.88[ASN][1000 genomes]
rs343166	0.87[ASN][1000 genomes]
rs343178	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs343180	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs343195	0.88[ASN][1000 genomes]
rs343197	0.88[ASN][1000 genomes]
rs343198	0.88[ASN][1000 genomes]
rs343200	0.88[ASN][1000 genomes]
rs343202	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs343203	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs343204	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs343205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs343206	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs343211	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs343212	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4833187	0.83[ASN][1000 genomes]
rs72680434	0.83[ASN][1000 genomes]
rs72680442	0.85[ASN][1000 genomes]
rs870252	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	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	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121784200-121798000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:121787600-121791400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:121787600-121796000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:121788400-121791400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr4:121790400-121792000	Enhancers	Fetal Lung	lung
6	chr4:121790600-121791400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:121790600-121791400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:121790600-121792000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:121790800-121791400	Active TSS	Fetal Brain Male	brain
10	chr4:121790800-121791400	Enhancers	Fetal Kidney	kidney
11	chr4:121790800-121791400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr4:121790800-121791400	Enhancers	NHDF-Ad	bronchial
13	chr4:121790800-121792000	Enhancers	Ovary	ovary
14	chr4:121791000-121791400	Enhancers	Fetal Stomach	stomach
15	chr4:121791000-121792000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:121791000-121792000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:121791000-121792000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr4:121791200-121792000	Enhancers	Pancreas	Pancrea
19	chr4:121791200-121792200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:121791200-121792200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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