Variant report

Variant	rs1388995
Chromosome Location	chr4:125354402-125354403
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1388993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1492751	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1586892	1.00[EUR][1000 genomes]
rs17008215	1.00[EUR][1000 genomes]
rs17008226	1.00[EUR][1000 genomes]
rs17008247	1.00[EUR][1000 genomes]
rs2100621	1.00[EUR][1000 genomes]
rs2893091	1.00[EUR][1000 genomes]
rs57627207	1.00[EUR][1000 genomes]
rs58898118	1.00[EUR][1000 genomes]
rs6836310	1.00[AMR][1000 genomes]
rs6836666	1.00[AMR][1000 genomes]
rs72921132	1.00[AMR][1000 genomes]
rs72923360	1.00[EUR][1000 genomes]
rs72923361	1.00[EUR][1000 genomes]
rs72923363	1.00[EUR][1000 genomes]
rs72923389	1.00[EUR][1000 genomes]
rs72923400	1.00[EUR][1000 genomes]
rs7667465	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv432624	chr4:125013395-125367740	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv998024	chr4:125019384-125380876	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537241	chr4:125019384-125380876	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1015049	chr4:125037090-125393067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv879880	chr4:125174817-125494547	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2760890	chr4:125273456-125466931	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv879881	chr4:125280852-125448288	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:125350600-125358800	Weak transcription	Fetal Intestine Small	intestine
2	chr4:125350800-125357000	Weak transcription	Pancreas	Pancrea
3	chr4:125350800-125357200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:125350800-125359000	Weak transcription	Right Atrium	heart
5	chr4:125352400-125356000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:125352600-125354800	Enhancers	A549	lung
7	chr4:125353400-125354600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr4:125353400-125354600	Enhancers	NHEK	skin
9	chr4:125353800-125357000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:125353800-125358800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:125354200-125354600	Enhancers	Fetal Lung	lung
12	chr4:125354200-125354800	Enhancers	Fetal Heart	heart
13	chr4:125354400-125354600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:125354400-125354800	Enhancers	HUVEC	blood vessel
15	chr4:125354400-125355000	Enhancers	Gastric	stomach
16	chr4:125354400-125356200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:125354400-125358800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:125354400-125359000	Weak transcription	Stomach Mucosa	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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