Variant report

Variant	rs12720577
Chromosome Location	chr1:186896387-186896388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10494589	1.00[EUR][1000 genomes]
rs11802961	1.00[EUR][1000 genomes]
rs11806153	1.00[EUR][1000 genomes]
rs12720675	1.00[AMR][1000 genomes]
rs16826324	1.00[EUR][1000 genomes]
rs1924726	1.00[EUR][1000 genomes]
rs1924727	1.00[EUR][1000 genomes]
rs1924739	1.00[EUR][1000 genomes]
rs55766137	1.00[EUR][1000 genomes]
rs74135235	1.00[EUR][1000 genomes]
rs74135236	1.00[EUR][1000 genomes]
rs74135252	1.00[EUR][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	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
2	nsv548407	chr1:186875459-186951429	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186854000-186897200	Weak transcription	Lung	lung
2	chr1:186864600-186897000	Weak transcription	Esophagus	oesophagus
3	chr1:186868800-186897000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:186869000-186896600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:186871400-186904000	Weak transcription	Hela-S3	cervix
6	chr1:186873800-186896800	Weak transcription	Small Intestine	intestine
7	chr1:186881800-186896800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:186881800-186933600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:186881800-186951200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:186883800-186906800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:186888800-186897000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:186890000-186924400	Weak transcription	Fetal Stomach	stomach
13	chr1:186890800-186928400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:186892800-186896800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:186892800-186924000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:186893000-186896400	Weak transcription	NHEK	skin
17	chr1:186894600-186897400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:186894800-186896400	Enhancers	Adipose Nuclei	Adipose
19	chr1:186895000-186897600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:186895200-186896800	Weak transcription	HUVEC	blood vessel
21	chr1:186895200-186897000	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:186895400-186899600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:186895400-186904600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:186895400-186937000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:186895600-186897600	Enhancers	Fetal Intestine Small	intestine
26	chr1:186895600-186897800	Enhancers	Fetal Intestine Large	intestine
27	chr1:186895600-186899400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:186895600-186903800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:186895800-186896400	Enhancers	Stomach Mucosa	stomach
30	chr1:186895800-186896600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:186895800-186899400	Weak transcription	NHDF-Ad	bronchial
32	chr1:186896000-186900800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:186896200-186897400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:186896200-186897600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:186896200-186902400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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