Variant report

Variant	rs12720490
Chromosome Location	chr1:186808280-186808281
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11567825	1.00[AMR][1000 genomes]
rs11567831	1.00[AMR][1000 genomes]
rs11567832	1.00[AMR][1000 genomes]
rs12720603	1.00[AMR][1000 genomes]
rs16826185	1.00[AMR][1000 genomes]
rs16826273	1.00[AMR][1000 genomes]
rs4648266	1.00[AMR][1000 genomes]
rs4648267	1.00[AMR][1000 genomes]
rs4648278	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186799400-186810600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:186800200-186827800	Weak transcription	NHEK	skin
3	chr1:186801000-186818400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:186805800-186808600	Enhancers	Fetal Intestine Small	intestine
5	chr1:186806000-186809800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:186806000-186810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:186806800-186808800	Enhancers	Fetal Intestine Large	intestine
8	chr1:186806800-186809000	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr1:186807000-186808600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:186807000-186808600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:186807000-186808600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:186807000-186808600	Enhancers	Small Intestine	intestine
13	chr1:186807000-186808600	Enhancers	HUVEC	blood vessel
14	chr1:186807000-186808800	Enhancers	Fetal Kidney	kidney
15	chr1:186807000-186808800	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:186807000-186808800	Enhancers	Stomach Mucosa	stomach
17	chr1:186807000-186809000	Enhancers	Adipose Nuclei	Adipose
18	chr1:186807000-186809000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr1:186807200-186808600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:186807600-186808400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:186807600-186808400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr1:186807600-186808400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr1:186807600-186809000	Enhancers	Primary B cells from cord blood	blood
24	chr1:186807600-186809000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:186807600-186812800	Enhancers	Colon Smooth Muscle	Colon
26	chr1:186807600-186814400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:186807800-186808600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:186807800-186808800	Enhancers	NHDF-Ad	bronchial
29	chr1:186807800-186811400	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:186808000-186808400	Weak transcription	A549	lung
31	chr1:186808000-186809000	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:186808000-186811600	Weak transcription	Hela-S3	cervix
33	chr1:186808200-186808600	Enhancers	Pancreas	Pancrea
34	chr1:186808200-186808600	Enhancers	GM12878-XiMat	blood
35	chr1:186808200-186808800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr1:186808200-186809000	Flanking Active TSS	Primary hematopoietic stem cells	blood

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