Variant report

Variant	rs12714245
Chromosome Location	chr2:21262343-21262344
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	chr2:21259349..21261938-chr2:21262179..21264854,2	K562	blood:
2	chr2:21260491..21263046-chr2:21265697..21267958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084674	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12714221	1.00[EUR][1000 genomes]
rs12720804	1.00[EUR][1000 genomes]
rs1800478	1.00[EUR][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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr2:21255400-21262800	Weak transcription	Right Atrium	heart
2	chr2:21256600-21266400	Transcr. at gene 5' and 3'	HepG2	liver
3	chr2:21259800-21262800	Weak transcription	Aorta	Aorta
4	chr2:21260400-21266000	Weak transcription	Lung	lung
5	chr2:21260600-21262400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:21261400-21262400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:21261400-21262400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:21261400-21262400	Enhancers	Adipose Nuclei	Adipose
9	chr2:21261400-21262400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:21261400-21263000	Enhancers	HSMM	muscle
11	chr2:21261600-21262400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:21261600-21262400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:21261600-21266000	Weak transcription	Left Ventricle	heart
14	chr2:21261600-21266000	Weak transcription	Right Ventricle	heart
15	chr2:21261800-21262400	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:21261800-21265400	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
17	chr2:21261800-21265800	Transcr. at gene 5' and 3'	Liver	Liver
18	chr2:21262000-21262400	Flanking Active TSS	HSMMtube	muscle
19	chr2:21262000-21262600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:21262000-21265400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
21	chr2:21262000-21266000	Weak transcription	Pancreas	Pancrea
22	chr2:21262200-21262800	Enhancers	Stomach Smooth Muscle	stomach
23	chr2:21262200-21263000	Enhancers	Ovary	ovary
24	chr2:21262200-21264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:21262200-21265600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:21262200-21265800	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:21262200-21266000	Weak transcription	Gastric	stomach

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