Variant report

Variant	rs73590837
Chromosome Location	chr8:54927685-54927686
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54925106..54930521-chr8:54931278..54937362,17	K562	blood:
2	chr8:54882766..54885622-chr8:54926633..54929189,2	K562	blood:
3	chr8:54922330..54924100-chr8:54925061..54928080,4	K562	blood:
4	chr8:54925192..54928019-chr8:54933494..54935091,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187735	Chromatin interaction
ENSG00000253667	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10101967	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10112111	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10504160	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16919753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28374410	1.00[AMR][1000 genomes]
rs28437156	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452332	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489512	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575670	1.00[AMR][1000 genomes]
rs28620338	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28698373	1.00[AMR][1000 genomes]
rs28813536	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56894994	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589289	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590828	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592909	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
2	chr8:54892200-54932400	Weak transcription	Stomach Mucosa	stomach
3	chr8:54899200-54933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:54899800-54932200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:54900800-54928400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:54900800-54931200	Weak transcription	Right Ventricle	heart
7	chr8:54900800-54932800	Weak transcription	Fetal Kidney	kidney
8	chr8:54903800-54931400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:54903800-54932600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:54903800-54933000	Weak transcription	Aorta	Aorta
11	chr8:54903800-54933400	Weak transcription	Esophagus	oesophagus
12	chr8:54904000-54933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:54908200-54931000	Weak transcription	Thymus	Thymus
14	chr8:54909000-54928800	Weak transcription	Gastric	stomach
15	chr8:54909000-54930800	Weak transcription	HUVEC	blood vessel
16	chr8:54909000-54931800	Weak transcription	Lung	lung
17	chr8:54909200-54932200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:54909200-54933000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:54909800-54928600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:54910400-54932800	Weak transcription	Fetal Brain Female	brain
21	chr8:54911000-54932800	Weak transcription	NH-A	brain
22	chr8:54911400-54931000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:54911600-54931000	Weak transcription	Adipose Nuclei	Adipose
24	chr8:54912600-54930800	Weak transcription	Hela-S3	cervix
25	chr8:54912600-54932800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr8:54915600-54931600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:54917200-54928800	Weak transcription	Left Ventricle	heart
28	chr8:54917400-54931000	Weak transcription	Fetal Lung	lung
29	chr8:54918600-54933400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:54920000-54931000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:54920000-54933400	Weak transcription	Placenta	Placenta
32	chr8:54920200-54930400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:54921000-54932400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:54921000-54932800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr8:54921200-54933200	Weak transcription	Fetal Intestine Large	intestine
36	chr8:54921600-54933400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:54921800-54930200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:54921800-54932600	Weak transcription	Fetal Intestine Small	intestine
39	chr8:54921800-54933000	Weak transcription	Fetal Stomach	stomach
40	chr8:54922200-54930600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:54922200-54932200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:54922400-54928200	Weak transcription	Primary B cells from cord blood	blood
43	chr8:54922400-54929600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:54922400-54931000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:54922400-54931200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:54922400-54932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:54922800-54928400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:54922800-54930200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:54922800-54930600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:54922800-54931000	Weak transcription	NHDF-Ad	bronchial

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