Variant report

Variant	rs4293757
Chromosome Location	chr4:30943209-30943210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10008420	0.81[EUR][1000 genomes]
rs10027212	0.92[TSI][hapmap]
rs11935770	1.00[CHB][hapmap]
rs11938996	0.90[JPT][hapmap]
rs12503052	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13137577	0.84[EUR][1000 genomes]
rs13149475	0.86[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs13150083	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs13150968	0.86[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs13152756	0.85[EUR][1000 genomes]
rs1823196	0.90[JPT][hapmap]
rs28414371	0.89[ASN][1000 genomes]
rs34297806	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34410526	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35186637	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35309740	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35857516	0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs36173628	0.84[EUR][1000 genomes]
rs4269140	0.90[JPT][hapmap]
rs4305479	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4466009	0.81[TSI][hapmap]
rs55982008	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56037166	0.83[EUR][1000 genomes]
rs56190579	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60551461	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61792864	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61792875	0.83[ASN][1000 genomes]
rs61792876	0.83[ASN][1000 genomes]
rs61792877	0.83[ASN][1000 genomes]
rs61792878	0.83[ASN][1000 genomes]
rs61792882	0.83[ASN][1000 genomes]
rs61792933	0.83[ASN][1000 genomes]
rs61792936	0.83[ASN][1000 genomes]
rs61795879	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61795880	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61795883	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6448729	0.83[ASN][1000 genomes]
rs6839111	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6842171	0.87[CHD][hapmap];0.90[JPT][hapmap]
rs6842574	0.90[JPT][hapmap]
rs6844071	0.81[EUR][1000 genomes]
rs6846615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6847898	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs73108238	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7674446	0.90[JPT][hapmap]
rs7676542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9985629	0.83[ASN][1000 genomes]
rs9992704	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv878810	chr4:30823157-30987395	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv998450	chr4:30823631-31628179	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30914200-30947200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:30920600-30947400	Weak transcription	Fetal Stomach	stomach
3	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
4	chr4:30935200-30947400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:30938200-30945800	Enhancers	Fetal Intestine Small	intestine
6	chr4:30939600-30945000	Enhancers	Fetal Intestine Large	intestine
7	chr4:30940400-30943400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr4:30941000-30944800	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:30941400-30944800	Weak transcription	Fetal Heart	heart
10	chr4:30941400-30944800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:30941600-30945000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:30941600-30945000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:30941600-30947200	Weak transcription	HMEC	breast
14	chr4:30941600-30951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:30941800-30947200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:30941800-30947200	Weak transcription	Hela-S3	cervix
17	chr4:30941800-30947200	Weak transcription	NHEK	skin
18	chr4:30942400-30946800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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