Variant report

Variant	rs539462331
Chromosome Location	chr12:26275647-26275648
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:26274388..26277209-chr12:26277264..26280315,5	K562	blood:
2	chr12:26275273..26277209-chr12:26278660..26280315,2	K562	blood:
3	chr12:26274883..26277038-chr12:26421953..26424842,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123095	Chromatin interaction
ENSG00000255750	Chromatin interaction
ENSG00000256894	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv3407309	chr12:26274110-26277058	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3381594	chr12:26274535-26276833	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26272200-26280000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:26272800-26276800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:26273000-26280000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr12:26273400-26280000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:26273400-26280000	Active TSS	Right Atrium	heart
6	chr12:26273600-26276000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:26273600-26279800	Active TSS	Psoas Muscle	Psoas
8	chr12:26273600-26280000	Active TSS	Brain Substantia Nigra	brain
9	chr12:26273800-26275800	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr12:26274000-26280000	Active TSS	Brain Angular Gyrus	brain
11	chr12:26274200-26279600	Active TSS	Colon Smooth Muscle	Colon
12	chr12:26274400-26275800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:26274400-26276000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:26274400-26279800	Active TSS	NHDF-Ad	bronchial
15	chr12:26274400-26280200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr12:26274600-26275800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:26274600-26275800	Active TSS	Muscle Satellite Cultured Cells	--
18	chr12:26274600-26275800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:26274600-26276000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:26274600-26280000	Active TSS	Aorta	Aorta
21	chr12:26274600-26280000	Active TSS	Right Ventricle	heart
22	chr12:26274600-26280000	Active TSS	HSMM	muscle
23	chr12:26274800-26275800	Active TSS	Colonic Mucosa	Colon
24	chr12:26274800-26275800	Bivalent/Poised TSS	Fetal Brain Female	brain
25	chr12:26274800-26275800	Bivalent/Poised TSS	HepG2	liver
26	chr12:26274800-26276000	Active TSS	Duodenum Mucosa	Duodenum
27	chr12:26274800-26276200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:26274800-26276200	Active TSS	Rectal Smooth Muscle	rectum
29	chr12:26274800-26276400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:26274800-26276400	Active TSS	Pancreas	Pancrea
31	chr12:26274800-26277000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
32	chr12:26274800-26277200	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr12:26274800-26279800	Active TSS	Left Ventricle	heart
34	chr12:26274800-26280000	Active TSS	Ovary	ovary
35	chr12:26275000-26275800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr12:26275000-26275800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:26275000-26275800	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
38	chr12:26275000-26275800	Active TSS	Primary T cells from cord blood	blood
39	chr12:26275000-26275800	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr12:26275000-26275800	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
41	chr12:26275000-26275800	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr12:26275000-26275800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr12:26275000-26275800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:26275000-26275800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:26275000-26275800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:26275000-26275800	Active TSS	Adipose Nuclei	Adipose
47	chr12:26275000-26275800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr12:26275000-26275800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr12:26275000-26275800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
50	chr12:26275000-26275800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle

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