Variant report

Variant	rs7673048
Chromosome Location	chr4:30939351-30939352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10000401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10013694	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10027633	0.83[EUR][1000 genomes]
rs10805300	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939317	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10939318	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11722640	0.82[EUR][1000 genomes]
rs11727594	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11735048	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12512796	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13120686	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13127450	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13151051	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28670870	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2871476	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4075130	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4235012	0.81[ASN][1000 genomes]
rs4235013	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4235014	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4235015	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4259023	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4260492	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4261943	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4266255	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4337695	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4358358	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4361347	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4374588	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4380481	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4441719	0.84[EUR][1000 genomes]
rs4469028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4487300	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4491979	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4536889	0.83[EUR][1000 genomes]
rs4557225	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4585258	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4586889	0.80[EUR][1000 genomes]
rs4692107	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4692483	0.81[EUR][1000 genomes]
rs4692485	0.83[EUR][1000 genomes]
rs4692487	0.83[EUR][1000 genomes]
rs4692488	0.83[EUR][1000 genomes]
rs4692489	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4692490	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5001866	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6448726	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6448727	0.81[EUR][1000 genomes]
rs6819406	0.86[EUR][1000 genomes]
rs6821487	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6839087	0.82[EUR][1000 genomes]
rs6840698	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6856017	0.82[AFR][1000 genomes]
rs7658077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661924	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7662881	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7665348	0.81[EUR][1000 genomes]
rs7667487	0.82[ASN][1000 genomes]
rs7669015	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678386	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7679853	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7683848	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7683968	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7696462	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9685207	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9990832	0.83[EUR][1000 genomes]
rs9996030	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9997116	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9997529	0.80[EUR][1000 genomes]
rs9998569	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9999771	0.85[EUR][1000 genomes];0.87[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:14 , 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	chr4:30914400-30940600	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:30920600-30947400	Weak transcription	Fetal Stomach	stomach
4	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
5	chr4:30932000-30939800	Weak transcription	Fetal Heart	heart
6	chr4:30932800-30940600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:30934400-30939800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:30935200-30947400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:30935800-30939600	Weak transcription	Fetal Intestine Large	intestine
10	chr4:30938200-30945800	Enhancers	Fetal Intestine Small	intestine
11	chr4:30938400-30941800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:30939000-30939400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:30939000-30941800	Enhancers	NHEK	skin
14	chr4:30939200-30941600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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