Variant report

Variant	rs34003342
Chromosome Location	chr12:122948428-122948429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122883342..122886247-chr12:122947542..122950684,3	MCF-7	breast:
2	chr12:122906584..122908969-chr12:122947316..122950216,3	MCF-7	breast:
3	chr12:122906206..122907828-chr12:122947646..122949650,2	MCF-7	breast:
4	chr12:122905739..122907379-chr12:122946409..122949059,2	K562	blood:
5	chr12:122947417..122950530-chr12:122951037..122954189,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7313301	1.00[AMR][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	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122938800-122957000	Weak transcription	Thymus	Thymus
3	chr12:122939600-122955200	Weak transcription	Fetal Thymus	thymus
4	chr12:122941200-122957200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:122943600-122951400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:122944400-122957000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:122945800-122956000	Weak transcription	GM12878-XiMat	blood
8	chr12:122946800-122949800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:122947400-122951600	Enhancers	Placenta	Placenta
10	chr12:122948000-122948800	Enhancers	Fetal Intestine Large	intestine
11	chr12:122948000-122949800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:122948200-122948800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:122948200-122949200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr12:122948200-122949200	Enhancers	HepG2	liver
15	chr12:122948200-122949800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:122948200-122949800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:122948200-122949800	Enhancers	A549	lung
18	chr12:122948200-122949800	Enhancers	NHEK	skin
19	chr12:122948200-122952000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:122948400-122948600	Enhancers	Fetal Muscle Trunk	muscle
21	chr12:122948400-122948800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:122948400-122948800	Enhancers	Esophagus	oesophagus
23	chr12:122948400-122948800	Enhancers	Fetal Intestine Small	intestine
24	chr12:122948400-122948800	Enhancers	Psoas Muscle	Psoas
25	chr12:122948400-122949000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:122948400-122949000	Flanking Active TSS	Hela-S3	cervix
27	chr12:122948400-122949000	Enhancers	HSMM	muscle
28	chr12:122948400-122949200	Enhancers	NH-A	brain
29	chr12:122948400-122949200	Enhancers	Osteobl	bone
30	chr12:122948400-122949600	Enhancers	Lung	lung
31	chr12:122948400-122949800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:122948400-122949800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:122948400-122949800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:122948400-122949800	Enhancers	HMEC	breast
35	chr12:122948400-122949800	Enhancers	HUVEC	blood vessel
36	chr12:122948400-122949800	Enhancers	NHDF-Ad	bronchial
37	chr12:122948400-122949800	Enhancers	NHLF	lung
38	chr12:122948400-122950000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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