Variant report

Variant	rs73680388
Chromosome Location	chr8:54882360-54882361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:54881797-54883838	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000253667	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11986617	1.00[EUR][1000 genomes]
rs11990809	1.00[EUR][1000 genomes]
rs11992220	1.00[EUR][1000 genomes]
rs11995582	1.00[EUR][1000 genomes]
rs35010658	1.00[EUR][1000 genomes]
rs58221990	1.00[EUR][1000 genomes]
rs59549579	1.00[EUR][1000 genomes]
rs60709944	1.00[EUR][1000 genomes]
rs60834806	1.00[EUR][1000 genomes]
rs6473912	1.00[EUR][1000 genomes]
rs6990968	1.00[EUR][1000 genomes]
rs7001356	1.00[EUR][1000 genomes]
rs7018154	1.00[EUR][1000 genomes]
rs73587669	1.00[EUR][1000 genomes]
rs7463527	1.00[EUR][1000 genomes]
rs7463528	1.00[EUR][1000 genomes]
rs7818005	1.00[EUR][1000 genomes]
rs7821654	1.00[EUR][1000 genomes]
rs7829394	1.00[EUR][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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54856400-54889400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:54859600-54885400	Weak transcription	K562	blood
3	chr8:54866600-54893600	Weak transcription	Fetal Kidney	kidney
4	chr8:54866800-54885200	Weak transcription	NH-A	brain
5	chr8:54866800-54898000	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:54866800-54898200	Weak transcription	Fetal Heart	heart
7	chr8:54867000-54884800	Weak transcription	HUVEC	blood vessel
8	chr8:54868200-54895600	Weak transcription	Brain Angular Gyrus	brain
9	chr8:54871400-54891000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:54871400-54898000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
12	chr8:54872000-54892400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:54872800-54898200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr8:54873000-54895600	Weak transcription	Colonic Mucosa	Colon
15	chr8:54873400-54893600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:54873600-54894600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:54873600-54898000	Weak transcription	Brain Substantia Nigra	brain
18	chr8:54873800-54883800	Weak transcription	Brain Germinal Matrix	brain
19	chr8:54873800-54885200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr8:54873800-54891000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:54873800-54891000	Weak transcription	NHLF	lung
22	chr8:54873800-54897400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:54873800-54897800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:54873800-54899800	Weak transcription	Right Ventricle	heart
25	chr8:54874000-54884600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:54874000-54891200	Weak transcription	Esophagus	oesophagus
27	chr8:54874000-54891200	Weak transcription	Fetal Brain Female	brain
28	chr8:54874000-54896000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:54874000-54898000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:54874000-54898000	Weak transcription	Aorta	Aorta
31	chr8:54874200-54891000	Weak transcription	Brain Anterior Caudate	brain
32	chr8:54874400-54883800	Weak transcription	Thymus	Thymus
33	chr8:54874400-54884600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:54874400-54886000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:54874400-54890600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:54874400-54890600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr8:54874400-54891000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:54874400-54895400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:54874400-54897200	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:54874600-54883800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:54874600-54884800	Weak transcription	Adipose Nuclei	Adipose
42	chr8:54874600-54888200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:54874600-54891000	Weak transcription	Osteobl	bone
44	chr8:54875800-54898000	Weak transcription	Small Intestine	intestine
45	chr8:54876000-54890600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:54876000-54892000	Weak transcription	Gastric	stomach
47	chr8:54876200-54888200	Weak transcription	HepG2	liver
48	chr8:54876400-54908600	Weak transcription	Psoas Muscle	Psoas
49	chr8:54876600-54890000	Weak transcription	NHDF-Ad	bronchial
50	chr8:54877000-54890200	Weak transcription	Stomach Smooth Muscle	stomach

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