Variant report

Variant	rs59707908
Chromosome Location	chr1:186882493-186882494
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186875951..186877958-chr1:186882459..186884107,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12720555	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12720565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12720570	0.91[AFR][1000 genomes]
rs12720594	0.91[AFR][1000 genomes]
rs12720595	0.91[AFR][1000 genomes]
rs58303526	0.91[AFR][1000 genomes]
rs74137541	0.91[AFR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186839200-186884800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr1:186854000-186897200	Weak transcription	Lung	lung
3	chr1:186864600-186897000	Weak transcription	Esophagus	oesophagus
4	chr1:186866200-186883200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:186866200-186885000	Weak transcription	HUVEC	blood vessel
6	chr1:186866400-186883000	Weak transcription	A549	lung
7	chr1:186868800-186897000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:186869000-186896600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:186871000-186884600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:186871400-186904000	Weak transcription	Hela-S3	cervix
11	chr1:186873800-186896800	Weak transcription	Small Intestine	intestine
12	chr1:186877000-186886000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:186878600-186895000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:186878800-186888600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:186879200-186888400	Weak transcription	Spleen	Spleen
16	chr1:186880000-186888800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr1:186880400-186883200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:186880400-186883800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:186880400-186891600	Weak transcription	Aorta	Aorta
20	chr1:186881400-186885800	Weak transcription	Osteobl	bone
21	chr1:186881400-186887000	Weak transcription	Fetal Stomach	stomach
22	chr1:186881600-186883200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:186881600-186884600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:186881600-186886000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:186881600-186891400	Weak transcription	Fetal Intestine Large	intestine
26	chr1:186881600-186894600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:186881600-186895000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:186881800-186883000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr1:186881800-186894600	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:186881800-186894800	Weak transcription	Adipose Nuclei	Adipose
31	chr1:186881800-186894800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:186881800-186896800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr1:186881800-186933600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:186881800-186951200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:186882000-186882800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr1:186882000-186882800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:186882000-186883000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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