Variant report

Variant	rs13122707
Chromosome Location	chr4:30948393-30948394
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10008068	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10010853	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13112641	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16884201	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28489161	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28752062	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34059778	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34170853	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34384535	0.87[ASN][1000 genomes]
rs34547954	0.82[ASN][1000 genomes]
rs34625421	0.86[ASN][1000 genomes]
rs35117412	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35235147	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35262065	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35554621	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4505781	0.84[ASN][1000 genomes]
rs61792873	0.84[ASN][1000 genomes]
rs61794533	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61794534	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61795887	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6819579	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71598132	1.00[EUR][1000 genomes];0.89[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:25 , 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	chr4:30947400-30948600	Enhancers	Stomach Mucosa	stomach
8	chr4:30947400-30952200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:30947600-30952600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:30947800-30949800	Weak transcription	NH-A	brain
11	chr4:30947800-30950400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:30947800-30950400	Weak transcription	NHEK	skin
13	chr4:30947800-30951600	Weak transcription	Fetal Intestine Large	intestine
14	chr4:30947800-30952000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:30948000-30950000	Weak transcription	HUVEC	blood vessel
16	chr4:30948000-30950400	Weak transcription	HMEC	breast
17	chr4:30948200-30949400	Weak transcription	Hela-S3	cervix
18	chr4:30948200-30950400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:30948200-30950400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:30948200-30950400	Weak transcription	Fetal Stomach	stomach
21	chr4:30948200-30951600	Weak transcription	Fetal Intestine Small	intestine
22	chr4:30948200-30951800	Weak transcription	Left Ventricle	heart
23	chr4:30948200-30953000	Weak transcription	Aorta	Aorta
24	chr4:30948200-30954200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:30948200-30956000	Weak transcription	Fetal Heart	heart

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