Variant report

Variant	rs72709867
Chromosome Location	chr1:186893001-186893002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1124429	0.82[AMR][1000 genomes]
rs12720530	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12720702	0.82[AMR][1000 genomes]
rs12720704	0.82[AMR][1000 genomes]
rs12720707	0.82[AMR][1000 genomes]
rs12720717	0.82[AMR][1000 genomes]
rs2307195	1.00[AFR][1000 genomes]
rs2891264	0.82[AMR][1000 genomes]
rs55819273	1.00[AFR][1000 genomes]
rs6661772	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs72709847	0.91[AMR][1000 genomes]
rs72709853	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72714329	0.82[AMR][1000 genomes]
rs7522159	0.82[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:34 , 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	chr1:186878600-186895000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:186881600-186894600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:186881600-186895000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:186881800-186894600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:186881800-186894800	Weak transcription	Adipose Nuclei	Adipose
12	chr1:186881800-186894800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:186881800-186896800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:186881800-186933600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:186881800-186951200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:186883800-186906800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:186884800-186894600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:186887200-186894800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:186888800-186897000	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:186890000-186924400	Weak transcription	Fetal Stomach	stomach
21	chr1:186890400-186895200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:186890800-186928400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:186891400-186893200	Enhancers	Fetal Intestine Large	intestine
24	chr1:186891600-186894600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:186891800-186895600	Weak transcription	Aorta	Aorta
26	chr1:186892000-186893200	Enhancers	Fetal Intestine Small	intestine
27	chr1:186892000-186893600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:186892000-186894200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:186892000-186894600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:186892200-186894200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:186892800-186896800	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:186892800-186924000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:186893000-186895800	Weak transcription	Stomach Mucosa	stomach
34	chr1:186893000-186896400	Weak transcription	NHEK	skin

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