Variant report

Variant	rs12429538
Chromosome Location	chr13:30468145-30468146
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12584646	0.82[ASN][1000 genomes]
rs74042857	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30452200-30468200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:30452600-30472200	Weak transcription	Ovary	ovary
3	chr13:30462000-30468200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:30462400-30468200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr13:30463000-30476400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:30466600-30468200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:30466800-30468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr13:30466800-30468400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr13:30467000-30468200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr13:30467400-30468400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:30467600-30468200	Enhancers	Fetal Intestine Small	intestine
12	chr13:30467600-30468200	Enhancers	Fetal Lung	lung
13	chr13:30467600-30468600	Enhancers	NHDF-Ad	bronchial
14	chr13:30467800-30468400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:30467800-30468600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:30468000-30468200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:30468000-30468600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr13:30468000-30468600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:30468000-30468600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr13:30468000-30468600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:30468000-30468600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:30468000-30468600	Enhancers	Esophagus	oesophagus
23	chr13:30468000-30468600	Enhancers	Gastric	stomach
24	chr13:30468000-30468600	Enhancers	Pancreas	Pancrea
25	chr13:30468000-30468600	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr13:30468000-30468600	Enhancers	Stomach Mucosa	stomach
27	chr13:30468000-30468800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:30468000-30473800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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