Variant report

Variant	rs12720485
Chromosome Location	chr1:186798128-186798129
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4648251	1.00[AFR][1000 genomes]

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	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv466272	chr1:186742947-186803226	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv548406	chr1:186742947-186803226	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186797600-186798200	Active TSS	Primary T cells from cord blood	blood
2	chr1:186797600-186798400	Active TSS	Primary hematopoietic stem cells	blood
3	chr1:186797600-186798400	Active TSS	HUVEC	blood vessel
4	chr1:186797600-186798800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:186797600-186799000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:186797600-186799000	Active TSS	Osteobl	bone
7	chr1:186797600-186799200	Active TSS	Stomach Mucosa	stomach
8	chr1:186797600-186799400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:186797600-186799400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:186797600-186799400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:186797600-186799400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:186797600-186799400	Active TSS	Stomach Smooth Muscle	stomach
13	chr1:186797600-186799400	Active TSS	NHDF-Ad	bronchial
14	chr1:186797600-186799600	Active TSS	Primary monocytes fromperipheralblood	blood
15	chr1:186797600-186799600	Active TSS	Colon Smooth Muscle	Colon
16	chr1:186797600-186799800	Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr1:186797600-186799800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:186797600-186800000	Active TSS	Primary B cells from cord blood	blood
19	chr1:186797600-186800000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:186797600-186800200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:186797600-186800600	Active TSS	Hela-S3	cervix
22	chr1:186797800-186798200	Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr1:186797800-186798200	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr1:186797800-186798200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr1:186797800-186798200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr1:186797800-186798200	Active TSS	Placenta	Placenta
27	chr1:186797800-186798400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:186797800-186798400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr1:186797800-186798400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr1:186797800-186798400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:186797800-186798600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr1:186797800-186798600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:186797800-186798600	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:186797800-186798600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr1:186797800-186798600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:186797800-186798600	Bivalent/Poised TSS	Liver	Liver
37	chr1:186797800-186798600	Active TSS	Brain Cingulate Gyrus	brain
38	chr1:186797800-186798600	Active TSS	Brain Substantia Nigra	brain
39	chr1:186797800-186798600	Active TSS	Fetal Lung	lung
40	chr1:186797800-186798600	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr1:186797800-186798600	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr1:186797800-186798800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr1:186797800-186798800	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:186797800-186798800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:186797800-186798800	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr1:186797800-186798800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:186797800-186798800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:186797800-186798800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:186797800-186798800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:186797800-186798800	Active TSS	Brain Anterior Caudate	brain

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