Variant report

Variant	rs12479279
Chromosome Location	chr2:172259973-172259974
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172015722..172018692-chr2:172257692..172260604,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12469428	1.00[AFR][1000 genomes]
rs72625235	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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:172248000-172266000	Weak transcription	Left Ventricle	heart
5	chr2:172248600-172265400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:172254600-172265400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:172256200-172260800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:172256200-172264000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:172256800-172263400	Weak transcription	Fetal Brain Male	brain
10	chr2:172257000-172261200	ZNF genes & repeats	GM12878-XiMat	blood
11	chr2:172257000-172266000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:172257600-172266000	Weak transcription	Aorta	Aorta
13	chr2:172258000-172262800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:172258200-172265200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:172258200-172265400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:172258600-172272400	Weak transcription	A549	lung
17	chr2:172259200-172261600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:172259200-172261600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:172259200-172261600	Enhancers	Osteobl	bone
20	chr2:172259200-172261800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:172259200-172261800	Enhancers	NH-A	brain
22	chr2:172259200-172262200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:172259400-172260000	Flanking Active TSS	HUVEC	blood vessel
24	chr2:172259400-172261800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:172259400-172261800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:172259400-172261800	Enhancers	HMEC	breast
27	chr2:172259400-172265400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:172259400-172272200	Weak transcription	Fetal Intestine Small	intestine
29	chr2:172259600-172260000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:172259600-172260000	ZNF genes & repeats	K562	blood
31	chr2:172259600-172260200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:172259600-172260400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:172259600-172261000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:172259600-172261600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:172259600-172261800	Enhancers	HSMM	muscle
36	chr2:172259600-172262200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:172259600-172262200	Enhancers	Hela-S3	cervix
38	chr2:172259600-172262200	Enhancers	NHEK	skin
39	chr2:172259800-172260800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:172259800-172260800	Weak transcription	HSMMtube	muscle
41	chr2:172259800-172260800	Weak transcription	NHLF	lung
42	chr2:172259800-172261200	Weak transcription	Primary B cells from cord blood	blood
43	chr2:172259800-172261600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:172259800-172261800	Enhancers	NHDF-Ad	bronchial
45	chr2:172259800-172262000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:172259800-172262200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:172259800-172262800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:172259800-172266000	Weak transcription	Esophagus	oesophagus

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