Variant report

Variant	rs12498497
Chromosome Location	chr4:143736724-143736725
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	chr4:143728679..143731015-chr4:143735952..143738151,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12498666	0.88[EUR][1000 genomes]
rs12499329	0.88[EUR][1000 genomes]
rs12500808	0.88[EUR][1000 genomes]
rs12502920	0.83[EUR][1000 genomes]
rs12504420	0.88[EUR][1000 genomes]
rs12506296	0.88[EUR][1000 genomes]
rs12507170	0.88[EUR][1000 genomes]
rs12509337	0.88[EUR][1000 genomes]
rs12509521	0.88[EUR][1000 genomes]
rs12510307	0.88[EUR][1000 genomes]
rs2053574	0.88[EUR][1000 genomes]
rs2289792	0.88[EUR][1000 genomes]
rs2289793	0.88[EUR][1000 genomes]
rs58027630	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670737	0.88[EUR][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	nsv880174	chr4:143639498-143848024	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143698800-143738600	Weak transcription	Aorta	Aorta
2	chr4:143724000-143737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:143731800-143738400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:143732000-143744600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:143732600-143737200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:143732600-143738600	Weak transcription	Esophagus	oesophagus
7	chr4:143732600-143745000	Weak transcription	Left Ventricle	heart
8	chr4:143732600-143749600	Weak transcription	Right Ventricle	heart
9	chr4:143733800-143737000	Weak transcription	Dnd41	blood
10	chr4:143735000-143738400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:143735200-143736800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:143735400-143738400	Weak transcription	Fetal Heart	heart
13	chr4:143735800-143738400	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:143736000-143740600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:143736200-143738400	Enhancers	NHDF-Ad	bronchial
16	chr4:143736400-143736800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:143736400-143736800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:143736400-143738600	Weak transcription	Small Intestine	intestine
19	chr4:143736400-143739000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:143736600-143737000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:143736600-143737800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:143736600-143738400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:143736600-143739000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:143736600-143739000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:143736600-143739000	Enhancers	Osteobl	bone

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