Variant report

Variant	rs12062205
Chromosome Location	chr1:180603394-180603395
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180486117..180489431-chr1:180599413..180603700,5	MCF-7	breast:
2	chr1:180555777..180557389-chr1:180601173..180603733,2	MCF-7	breast:
3	chr1:180601365..180604772-chr1:180617250..180620339,3	K562	blood:
4	chr1:180591571..180594380-chr1:180602481..180604049,2	K562	blood:
5	chr1:180601193..180603619-chr1:180808716..180810534,2	MCF-7	breast:
6	chr1:180601713..180603426-chr1:180603742..180605623,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206905	Chromatin interaction

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

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

rs_ID	r²[population]
rs16856420	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180600800-180603400	Active TSS	Brain Anterior Caudate	brain
2	chr1:180600800-180603600	Active TSS	Thymus	Thymus
3	chr1:180600800-180603800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:180600800-180604400	Active TSS	Fetal Brain Male	brain
5	chr1:180601000-180604200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:180601000-180606000	Active TSS	Right Ventricle	heart
7	chr1:180601200-180603600	Active TSS	Aorta	Aorta
8	chr1:180601200-180603600	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr1:180601200-180603600	Active TSS	HMEC	breast
10	chr1:180601200-180605800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr1:180601800-180603800	Active TSS	Brain Germinal Matrix	brain
12	chr1:180601800-180603800	Flanking Active TSS	Dnd41	blood
13	chr1:180602000-180603400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:180602000-180603400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:180602000-180615800	Weak transcription	Lung	lung
16	chr1:180602000-180618800	Weak transcription	Pancreas	Pancrea
17	chr1:180602000-180645200	Weak transcription	Gastric	stomach
18	chr1:180602200-180603400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:180602200-180603400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:180602200-180603400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:180602200-180603400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:180602200-180603400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:180602200-180603400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:180602200-180603400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:180602200-180603600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:180602200-180603600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:180602200-180603600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:180602200-180605000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:180602200-180608200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:180602200-180608200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:180602400-180603400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:180602400-180603400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:180602400-180603400	Enhancers	Osteobl	bone
34	chr1:180602400-180603800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr1:180602400-180603800	Flanking Active TSS	NHEK	skin
36	chr1:180602400-180604000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr1:180602400-180605600	Active TSS	Fetal Brain Female	brain
38	chr1:180602400-180605800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:180602400-180611000	Weak transcription	Stomach Mucosa	stomach
40	chr1:180602400-180612400	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:180602400-180612600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:180602600-180603400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:180602600-180603400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:180602600-180603400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:180602600-180603400	Flanking Active TSS	A549	lung
46	chr1:180602600-180603400	Enhancers	NHDF-Ad	bronchial
47	chr1:180602600-180603800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:180602800-180603400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:180602800-180603400	Active TSS	Left Ventricle	heart
50	chr1:180602800-180603600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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