Variant report

Variant	rs56015238
Chromosome Location	chr12:49034238-49034239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49033876..49037286-chr12:49037890..49040344,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs3902956	1.00[AFR][1000 genomes]
rs55823822	0.84[AFR][1000 genomes]
rs56037864	0.85[AFR][1000 genomes]
rs56306303	1.00[AFR][1000 genomes]
rs56942518	1.00[AFR][1000 genomes]
rs58685133	1.00[AFR][1000 genomes]
rs59636982	0.81[AFR][1000 genomes]
rs61522435	1.00[AFR][1000 genomes]
rs74088109	1.00[AFR][1000 genomes]
rs74088111	1.00[AFR][1000 genomes]
rs74088113	1.00[AFR][1000 genomes]
rs74088132	1.00[AFR][1000 genomes]
rs74088154	1.00[AFR][1000 genomes]
rs74088160	1.00[AFR][1000 genomes]
rs74088162	1.00[AFR][1000 genomes]
rs74089307	0.85[AFR][1000 genomes]
rs74089309	1.00[AFR][1000 genomes]
rs74089329	1.00[AFR][1000 genomes]
rs74089330	1.00[AFR][1000 genomes]
rs74089332	1.00[AFR][1000 genomes]
rs74089333	1.00[AFR][1000 genomes]
rs74089334	1.00[AFR][1000 genomes]
rs74089339	1.00[AFR][1000 genomes]
rs74089356	1.00[AFR][1000 genomes]
rs74089365	1.00[AFR][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	esv3332169	chr12:49005807-49150691	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49027600-49046600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:49027800-49036600	Weak transcription	Fetal Brain Male	brain
3	chr12:49028200-49045000	Weak transcription	Colonic Mucosa	Colon
4	chr12:49028400-49038000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:49028600-49037600	Weak transcription	HSMM	muscle
6	chr12:49028800-49034600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:49030000-49047200	Weak transcription	Esophagus	oesophagus
8	chr12:49030200-49036800	Weak transcription	A549	lung
9	chr12:49031000-49036600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:49031400-49037400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:49031400-49043800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:49031800-49037000	Weak transcription	HSMMtube	muscle
13	chr12:49032200-49036600	Weak transcription	Adipose Nuclei	Adipose
14	chr12:49033200-49036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:49033400-49036800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:49033600-49036600	Weak transcription	Osteobl	bone
17	chr12:49033800-49035000	Enhancers	K562	blood
18	chr12:49033800-49039000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:49033800-49045200	Weak transcription	Spleen	Spleen
20	chr12:49034000-49036600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:49034200-49036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links