Variant report

Variant	rs9992704
Chromosome Location	chr4:30952942-30952943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10008420	0.81[EUR][1000 genomes]
rs12503052	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13137577	0.84[EUR][1000 genomes]
rs13149475	0.84[EUR][1000 genomes]
rs13150083	0.83[EUR][1000 genomes]
rs13150968	0.82[EUR][1000 genomes]
rs13152756	0.85[EUR][1000 genomes]
rs28414371	0.94[ASN][1000 genomes]
rs34297806	0.89[EUR][1000 genomes]
rs34410526	0.86[EUR][1000 genomes]
rs35186637	0.87[EUR][1000 genomes]
rs35309740	0.89[EUR][1000 genomes]
rs35857516	0.85[EUR][1000 genomes]
rs36173628	0.84[EUR][1000 genomes]
rs4293757	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4305479	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55982008	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56037166	0.83[EUR][1000 genomes]
rs56190579	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60551461	0.97[EUR][1000 genomes]
rs61792864	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792874	0.83[ASN][1000 genomes]
rs61792875	0.88[ASN][1000 genomes]
rs61792876	0.88[ASN][1000 genomes]
rs61792877	0.88[ASN][1000 genomes]
rs61792878	0.88[ASN][1000 genomes]
rs61792882	0.88[ASN][1000 genomes]
rs61792933	0.88[ASN][1000 genomes]
rs61792934	0.82[ASN][1000 genomes]
rs61792936	0.88[ASN][1000 genomes]
rs61795879	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61795880	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61795883	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6448729	0.88[ASN][1000 genomes]
rs6839111	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6844071	0.81[EUR][1000 genomes]
rs6846615	0.88[ASN][1000 genomes]
rs6847898	0.88[ASN][1000 genomes]
rs73108238	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7676542	0.88[ASN][1000 genomes]
rs9985629	0.88[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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
2	chr4:30945200-30954000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:30945400-30954600	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:30948200-30953000	Weak transcription	Aorta	Aorta
5	chr4:30948200-30954200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:30948200-30956000	Weak transcription	Fetal Heart	heart
7	chr4:30949400-30955800	Enhancers	Hela-S3	cervix
8	chr4:30950400-30954800	Enhancers	HMEC	breast
9	chr4:30950800-30956400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:30951400-30954000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:30951600-30955200	Enhancers	Fetal Intestine Large	intestine
12	chr4:30951600-30956400	Enhancers	Fetal Intestine Small	intestine
13	chr4:30951800-30953600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:30952000-30953000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:30952200-30953000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:30952400-30953000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:30952400-30953000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:30952600-30954600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:30952600-30954800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr4:30952800-30953400	Flanking Active TSS	NHEK	skin
21	chr4:30952800-30954000	Weak transcription	A549	lung
22	chr4:30952800-30955600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:30952800-30956000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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