Variant report

Variant	rs4692107
Chromosome Location	chr4:30949816-30949817
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10000401	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10013694	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10027633	0.82[EUR][1000 genomes]
rs10805300	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10939317	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10939318	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11722640	0.81[EUR][1000 genomes]
rs11727594	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11735048	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12512796	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13120686	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13127450	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13151051	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28670870	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2871476	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4075130	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4235013	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4235014	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4235015	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4259023	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4260492	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4261943	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4266255	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4337695	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4358358	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4361347	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4374588	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4380481	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4441719	0.83[EUR][1000 genomes]
rs4469028	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4487300	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4491979	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4536889	0.82[EUR][1000 genomes]
rs4557225	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4585258	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4692485	0.81[EUR][1000 genomes]
rs4692487	0.82[EUR][1000 genomes]
rs4692488	0.82[EUR][1000 genomes]
rs4692489	0.83[EUR][1000 genomes]
rs4692490	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5001866	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6448726	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6819406	0.85[EUR][1000 genomes]
rs6821487	0.82[EUR][1000 genomes]
rs6839087	0.80[EUR][1000 genomes]
rs6840698	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7658077	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7661924	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7662881	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7669015	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7673048	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7678386	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7683848	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7683968	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7696462	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9685207	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9990832	0.82[EUR][1000 genomes]
rs9996030	0.83[EUR][1000 genomes]
rs9997116	0.84[EUR][1000 genomes]
rs9998569	0.83[EUR][1000 genomes]
rs9999771	0.84[EUR][1000 genomes];0.82[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
2	chr4:30941600-30951800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:30945000-30952400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:30945200-30954000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:30945400-30950200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:30945400-30954600	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:30947400-30952200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:30947600-30952600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:30947800-30950400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:30947800-30950400	Weak transcription	NHEK	skin
11	chr4:30947800-30951600	Weak transcription	Fetal Intestine Large	intestine
12	chr4:30947800-30952000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:30948000-30950000	Weak transcription	HUVEC	blood vessel
14	chr4:30948000-30950400	Weak transcription	HMEC	breast
15	chr4:30948200-30950400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:30948200-30950400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:30948200-30950400	Weak transcription	Fetal Stomach	stomach
18	chr4:30948200-30951600	Weak transcription	Fetal Intestine Small	intestine
19	chr4:30948200-30951800	Weak transcription	Left Ventricle	heart
20	chr4:30948200-30953000	Weak transcription	Aorta	Aorta
21	chr4:30948200-30954200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:30948200-30956000	Weak transcription	Fetal Heart	heart
23	chr4:30949400-30955800	Enhancers	Hela-S3	cervix
24	chr4:30949800-30950000	Enhancers	NH-A	brain

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