Variant report

Variant	rs58573495
Chromosome Location	chr12:48447373-48447374
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48446661..48450217-chr12:48458596..48461556,3	K562	blood:

Variant related genes	Relation type
ENSG00000079387	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10467100	1.00[EUR][1000 genomes]
rs11168288	1.00[EUR][1000 genomes]
rs11168290	1.00[EUR][1000 genomes]
rs11168368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11574002	1.00[EUR][1000 genomes]
rs11574060	1.00[EUR][1000 genomes]
rs11830088	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11830546	1.00[ASN][1000 genomes]
rs11833896	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835145	1.00[ASN][1000 genomes]
rs11835282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836542	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838217	1.00[EUR][1000 genomes]
rs12297117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17122786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1793947	1.00[EUR][1000 genomes]
rs34116679	1.00[EUR][1000 genomes]
rs34120080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34698661	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35445616	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35725325	1.00[EUR][1000 genomes]
rs35902603	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41272745	1.00[EUR][1000 genomes]
rs41272751	1.00[EUR][1000 genomes]
rs41272757	1.00[EUR][1000 genomes]
rs41272761	1.00[EUR][1000 genomes]
rs56265470	1.00[EUR][1000 genomes]
rs57550917	1.00[EUR][1000 genomes]
rs57783574	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58279970	1.00[EUR][1000 genomes]
rs58373242	1.00[ASN][1000 genomes]
rs59339937	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60556433	1.00[EUR][1000 genomes]
rs60894356	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73297147	1.00[EUR][1000 genomes]
rs73297150	1.00[EUR][1000 genomes]
rs73297159	1.00[EUR][1000 genomes]
rs74086446	1.00[EUR][1000 genomes]
rs74088715	1.00[EUR][1000 genomes]
rs74088779	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48431800-48456600	Weak transcription	NHLF	lung
2	chr12:48432000-48463400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:48435200-48476200	Weak transcription	Stomach Mucosa	stomach
5	chr12:48435400-48457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:48435800-48452400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:48436000-48448200	Strong transcription	Primary T cells from cord blood	blood
8	chr12:48437200-48489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:48439200-48448200	Weak transcription	HSMMtube	muscle
10	chr12:48439200-48448800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:48439200-48448800	Weak transcription	Pancreas	Pancrea
12	chr12:48439200-48453000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:48439200-48456800	Weak transcription	HMEC	breast
14	chr12:48439200-48468000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:48439600-48455400	Weak transcription	Colonic Mucosa	Colon
16	chr12:48440000-48452200	Weak transcription	NHDF-Ad	bronchial
17	chr12:48440000-48454000	Weak transcription	HUVEC	blood vessel
18	chr12:48440000-48457200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:48440200-48452600	Weak transcription	Brain Germinal Matrix	brain
20	chr12:48440200-48452600	Weak transcription	Right Ventricle	heart
21	chr12:48440200-48453800	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:48440400-48453400	Weak transcription	Esophagus	oesophagus
23	chr12:48440800-48452400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr12:48440800-48452400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:48441000-48448800	Weak transcription	Aorta	Aorta
26	chr12:48441000-48452600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:48441200-48448800	Weak transcription	Fetal Stomach	stomach
28	chr12:48441200-48452400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:48441200-48457000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr12:48441400-48452400	Weak transcription	Brain Anterior Caudate	brain
31	chr12:48441400-48453400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:48441400-48453400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:48441400-48454400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr12:48441400-48482600	Weak transcription	Small Intestine	intestine
35	chr12:48441600-48448800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:48441600-48452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:48441600-48452400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:48441600-48452400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:48441600-48452800	Weak transcription	NHEK	skin
40	chr12:48441600-48468000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:48441800-48448800	Weak transcription	Osteobl	bone
42	chr12:48442000-48448800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:48442000-48452200	Weak transcription	Fetal Brain Female	brain
44	chr12:48442000-48452400	Weak transcription	Fetal Kidney	kidney
45	chr12:48442200-48452400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:48442400-48452600	Weak transcription	Fetal Brain Male	brain
47	chr12:48442600-48448800	Weak transcription	Hela-S3	cervix
48	chr12:48442800-48452400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:48443000-48448800	Weak transcription	K562	blood
50	chr12:48443000-48452200	Weak transcription	HepG2	liver

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