Variant report

Variant	rs7818005
Chromosome Location	chr8:54911702-54911703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54909346..54912136-chr8:54916629..54919127,2	K562	blood:
2	chr8:54906501..54909723-chr8:54910534..54914290,4	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11986617	1.00[EUR][1000 genomes]
rs11990809	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992220	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995582	1.00[EUR][1000 genomes]
rs35010658	1.00[EUR][1000 genomes]
rs58221990	1.00[EUR][1000 genomes]
rs59549579	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60709944	1.00[EUR][1000 genomes]
rs60834806	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473912	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6990968	1.00[EUR][1000 genomes]
rs7001356	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018154	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73587669	1.00[EUR][1000 genomes]
rs73680388	1.00[EUR][1000 genomes]
rs7463527	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7463528	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821654	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7829394	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv2487551	chr8:54911494-54912959	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:122 , 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	chr8:54880400-54916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:54880800-54916000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr8:54881200-54912200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:54882600-54912600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:54887800-54912600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:54887800-54915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:54888000-54915400	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr8:54888200-54912400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:54890200-54912600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:54890600-54912600	Strong transcription	Fetal Thymus	thymus
12	chr8:54890600-54912800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:54892200-54932400	Weak transcription	Stomach Mucosa	stomach
14	chr8:54893200-54911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:54895200-54912600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:54895200-54913800	Strong transcription	Dnd41	blood
17	chr8:54897800-54914000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:54898400-54911800	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr8:54898400-54913400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:54898400-54915600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:54898800-54914400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:54899000-54912200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:54899000-54914400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:54899000-54915400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:54899000-54916000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:54899000-54916600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:54899000-54916600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:54899200-54933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:54899800-54918200	Weak transcription	Small Intestine	intestine
30	chr8:54899800-54932200	Weak transcription	Brain Substantia Nigra	brain
31	chr8:54900600-54922000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:54900800-54913400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:54900800-54928400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:54900800-54931200	Weak transcription	Right Ventricle	heart
35	chr8:54900800-54932800	Weak transcription	Fetal Kidney	kidney
36	chr8:54901400-54926600	Weak transcription	Pancreas	Pancrea
37	chr8:54902400-54912000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:54902800-54912200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr8:54903000-54912400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:54903400-54924800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:54903800-54923800	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:54903800-54931400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:54903800-54932600	Weak transcription	Brain Anterior Caudate	brain
44	chr8:54903800-54933000	Weak transcription	Aorta	Aorta
45	chr8:54903800-54933400	Weak transcription	Esophagus	oesophagus
46	chr8:54904000-54922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:54904000-54933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:54904200-54926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:54904400-54918200	Strong transcription	K562	blood
50	chr8:54904800-54912600	Strong transcription	Liver	Liver

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