Variant report

Variant	rs12058188
Chromosome Location	chr1:94715035-94715036
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94702693..94704717-chr1:94713468..94715091,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCD3-3	chr1:94714969-94715048	ENSG00000231363
2	lnc-ABCD3-3	chr1:94714969-94715075	NONHSAT004578

Variant related genes	Relation type
ENSG00000137962	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11165117	1.00[AMR][1000 genomes]
rs11165118	1.00[AMR][1000 genomes]
rs11165119	1.00[AMR][1000 genomes]
rs12074537	1.00[AMR][1000 genomes]
rs12075352	1.00[AMR][1000 genomes]
rs12082460	1.00[AMR][1000 genomes]
rs12083189	1.00[AMR][1000 genomes]
rs12084989	1.00[AMR][1000 genomes]
rs12084996	1.00[AMR][1000 genomes]
rs12088238	1.00[AMR][1000 genomes]
rs12088515	1.00[AMR][1000 genomes]
rs12089307	1.00[AMR][1000 genomes]
rs12092580	1.00[AMR][1000 genomes]
rs12093670	1.00[AMR][1000 genomes]
rs12095472	1.00[AMR][1000 genomes]
rs12096080	1.00[AMR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94713600-94715800	Weak transcription	Placenta	Placenta
2	chr1:94713600-94722800	Weak transcription	Gastric	stomach
3	chr1:94713800-94715600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:94713800-94716200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:94713800-94716400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:94714000-94715600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:94714000-94715600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:94714000-94715600	Weak transcription	Pancreas	Pancrea
9	chr1:94714000-94715600	Weak transcription	Stomach Mucosa	stomach
10	chr1:94714000-94716000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:94714000-94716000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr1:94714000-94716200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:94714000-94716800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:94714000-94719200	Weak transcription	HUVEC	blood vessel
15	chr1:94714000-94719800	Weak transcription	Adipose Nuclei	Adipose
16	chr1:94714000-94719800	Weak transcription	NHDF-Ad	bronchial
17	chr1:94714400-94715600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:94714400-94715600	Weak transcription	HepG2	liver
19	chr1:94714600-94724000	Weak transcription	A549	lung
20	chr1:94714800-94719000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:94714800-94719600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:94714800-94719800	Weak transcription	NH-A	brain
23	chr1:94714800-94721200	Weak transcription	HSMM	muscle
24	chr1:94715000-94715400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:94715000-94715400	Weak transcription	NHEK	skin
26	chr1:94715000-94716400	Enhancers	HMEC	breast
27	chr1:94715000-94719800	Weak transcription	Osteobl	bone

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