Variant report

Variant	rs12720675
Chromosome Location	chr1:186942242-186942243
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186941928..186943905-chr1:186949380..186952269,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12720577	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	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186881800-186951200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:186919600-186944800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:186923400-186958800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:186926800-186951200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:186927400-186943400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:186930200-186943800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:186935000-186950800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:186935600-186943400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:186935800-186947400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:186936000-186943800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:186936000-186944800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:186936000-186949400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:186936200-186948000	Weak transcription	Hela-S3	cervix
14	chr1:186936600-186947000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:186937200-186943600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:186937400-186942400	Weak transcription	HUVEC	blood vessel
17	chr1:186937400-186942400	Weak transcription	NHDF-Ad	bronchial
18	chr1:186937400-186943400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:186937400-186943800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:186937400-186946400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:186938000-186942600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:186939200-186950000	Weak transcription	A549	lung
23	chr1:186939800-186947600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:186942000-186942800	Strong transcription	Primary monocytes fromperipheralblood	blood

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