Variant report

Variant	rs73147938
Chromosome Location	chr5:94869203-94869204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94866645..94870389-chr5:94889293..94892013,3	K562	blood:

Variant related genes	Relation type
ENSG00000198677	Chromatin interaction
ENSG00000164291	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11949777	0.89[AFR][1000 genomes]
rs11951853	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17084844	0.89[AFR][1000 genomes]
rs17084856	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17084871	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17084888	0.83[AFR][1000 genomes]
rs17084908	0.89[AFR][1000 genomes]
rs17084925	0.83[AFR][1000 genomes]
rs2881774	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4645348	1.00[AMR][1000 genomes]
rs56742088	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57414975	0.89[AFR][1000 genomes]
rs57520226	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58364348	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59601824	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60632886	0.89[AFR][1000 genomes]
rs73147905	0.94[AFR][1000 genomes]
rs73147912	1.00[AMR][1000 genomes]
rs73147915	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73147917	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73147919	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73147928	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73147929	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73147942	1.00[AMR][1000 genomes]
rs73147967	0.83[AFR][1000 genomes]
rs73147968	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73147970	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7708692	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882388	chr5:94764006-94925849	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94811000-94889400	Weak transcription	Stomach Mucosa	stomach
2	chr5:94818000-94882400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:94825000-94886200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:94825400-94886400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:94826000-94886400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:94826800-94886400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:94827200-94889600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:94828600-94873600	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:94828800-94885800	Strong transcription	Fetal Thymus	thymus
10	chr5:94835200-94881000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:94841400-94883400	Strong transcription	Primary B cells from cord blood	blood
12	chr5:94841800-94886000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr5:94842000-94873600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:94842000-94884800	Strong transcription	Dnd41	blood
15	chr5:94842200-94882000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:94842200-94886000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr5:94843800-94870200	Strong transcription	HUVEC	blood vessel
18	chr5:94845600-94879800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:94846600-94881000	Weak transcription	Gastric	stomach
20	chr5:94847400-94890000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:94849200-94890000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:94849400-94871400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:94849800-94872000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:94849800-94878200	Weak transcription	Fetal Intestine Small	intestine
25	chr5:94849800-94879800	Weak transcription	Fetal Stomach	stomach
26	chr5:94849800-94881400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:94850600-94879200	Weak transcription	Small Intestine	intestine
28	chr5:94851800-94881200	Weak transcription	Right Ventricle	heart
29	chr5:94853800-94879800	Weak transcription	Lung	lung
30	chr5:94853800-94880400	Weak transcription	Pancreas	Pancrea
31	chr5:94853800-94890000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr5:94854800-94870000	Weak transcription	Ovary	ovary
33	chr5:94854800-94870400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr5:94855800-94878400	Strong transcription	Liver	Liver
35	chr5:94857600-94884800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:94860600-94875800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:94863000-94872800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr5:94863000-94874600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:94864400-94889400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:94865000-94872400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:94865200-94871600	Weak transcription	Colonic Mucosa	Colon
42	chr5:94865200-94875600	Weak transcription	Psoas Muscle	Psoas
43	chr5:94865200-94880200	Weak transcription	Spleen	Spleen
44	chr5:94865200-94889400	Weak transcription	Esophagus	oesophagus
45	chr5:94865200-94890000	Weak transcription	Aorta	Aorta
46	chr5:94865400-94871400	Weak transcription	Fetal Brain Female	brain
47	chr5:94865400-94872000	Weak transcription	A549	lung
48	chr5:94865400-94872200	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:94865400-94875600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:94865400-94875800	Weak transcription	Left Ventricle	heart

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