Variant report

Variant	rs2018665
Chromosome Location	chr1:94779072-94779073
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10493871	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12067988	1.00[ASN][1000 genomes]
rs1687966	1.00[ASN][1000 genomes]
rs17111415	1.00[ASN][1000 genomes]
rs17111448	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1756263	1.00[ASN][1000 genomes]
rs1765643	1.00[ASN][1000 genomes]
rs728862	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7417304	1.00[ASN][1000 genomes]
rs7520367	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs991562	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94772000-94780600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:94772000-94781400	Weak transcription	Osteobl	bone
3	chr1:94774600-94787800	Weak transcription	Aorta	Aorta
4	chr1:94775000-94783000	Weak transcription	Right Ventricle	heart
5	chr1:94776400-94779800	Weak transcription	A549	lung
6	chr1:94776400-94779800	Enhancers	HepG2	liver
7	chr1:94776600-94781400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:94776600-94781800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:94776600-94782000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:94776600-94784000	Weak transcription	Lung	lung
11	chr1:94776600-94785200	Weak transcription	Left Ventricle	heart
12	chr1:94776600-94790400	Weak transcription	Psoas Muscle	Psoas
13	chr1:94776800-94779800	Weak transcription	Fetal Intestine Large	intestine
14	chr1:94776800-94779800	Weak transcription	Pancreas	Pancrea
15	chr1:94776800-94781400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:94776800-94781400	Weak transcription	NHDF-Ad	bronchial
17	chr1:94776800-94784600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:94777000-94779600	Weak transcription	Liver	Liver
19	chr1:94777000-94780000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:94777000-94782000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:94777000-94784000	Weak transcription	Gastric	stomach
22	chr1:94777000-94785000	Weak transcription	Right Atrium	heart
23	chr1:94777000-94785200	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:94777600-94779800	Weak transcription	Stomach Mucosa	stomach
25	chr1:94777600-94781600	Weak transcription	HUVEC	blood vessel
26	chr1:94777800-94782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:94778400-94779200	Enhancers	Fetal Intestine Small	intestine
28	chr1:94778600-94781800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:94778600-94790400	Weak transcription	Spleen	Spleen
30	chr1:94778800-94779200	Enhancers	Fetal Kidney	kidney

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