Variant report

Variant	rs73589277
Chromosome Location	chr8:54871588-54871589
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	chr8:54864579..54866834-chr8:54868717..54871621,2	K562	blood:
2	chr8:54870259..54872063-chr8:54876101..54877711,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10093311	0.86[EUR][1000 genomes]
rs10093431	0.86[EUR][1000 genomes]
rs10095163	0.86[EUR][1000 genomes]
rs10095164	0.86[EUR][1000 genomes]
rs10095679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10096376	0.86[EUR][1000 genomes]
rs10099080	0.86[EUR][1000 genomes]
rs10101289	0.86[EUR][1000 genomes]
rs10102439	0.86[EUR][1000 genomes]
rs10102726	0.86[EUR][1000 genomes]
rs10102905	0.86[EUR][1000 genomes]
rs10112203	0.86[EUR][1000 genomes]
rs11993180	0.86[EUR][1000 genomes]
rs11998659	0.86[EUR][1000 genomes]
rs28379732	0.86[EUR][1000 genomes]
rs28412019	0.86[EUR][1000 genomes]
rs28431894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28507589	0.86[EUR][1000 genomes]
rs28565202	0.86[EUR][1000 genomes]
rs28707072	0.86[EUR][1000 genomes]
rs28736685	0.86[EUR][1000 genomes]
rs28759114	0.86[EUR][1000 genomes]
rs56902942	0.86[EUR][1000 genomes]
rs58595525	0.86[EUR][1000 genomes]
rs59387379	0.86[EUR][1000 genomes]
rs60805450	0.81[EUR][1000 genomes]
rs6473899	0.86[EUR][1000 genomes]
rs6473901	0.86[EUR][1000 genomes]
rs6473902	0.86[EUR][1000 genomes]
rs6473903	0.86[EUR][1000 genomes]
rs6983650	0.86[EUR][1000 genomes]
rs6983958	0.86[EUR][1000 genomes]
rs6984119	0.86[EUR][1000 genomes]
rs6989211	0.86[EUR][1000 genomes]
rs7004808	0.86[EUR][1000 genomes]
rs7007028	0.86[EUR][1000 genomes]
rs7007176	0.86[EUR][1000 genomes]
rs7014036	0.86[EUR][1000 genomes]
rs7018089	0.86[EUR][1000 genomes]
rs7018355	0.86[EUR][1000 genomes]
rs73589273	0.86[EUR][1000 genomes]
rs73589286	0.81[EUR][1000 genomes]
rs73589295	0.86[EUR][1000 genomes]
rs73590817	0.93[EUR][1000 genomes]
rs73679588	0.86[EUR][1000 genomes]
rs73679589	0.86[EUR][1000 genomes]
rs73679596	0.86[EUR][1000 genomes]
rs73681805	0.86[EUR][1000 genomes]
rs73681806	0.86[EUR][1000 genomes]
rs7823234	0.86[EUR][1000 genomes]
rs7824355	0.86[EUR][1000 genomes]
rs7834757	0.86[EUR][1000 genomes]
rs7844390	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7846650	0.86[EUR][1000 genomes]
rs9771960	0.86[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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54851200-54872600	Weak transcription	Brain Germinal Matrix	brain
2	chr8:54852200-54872600	Weak transcription	Fetal Brain Female	brain
3	chr8:54852400-54872600	Weak transcription	Esophagus	oesophagus
4	chr8:54856400-54889400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:54858000-54872000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:54858200-54872200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:54858200-54872600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:54858200-54872600	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:54858200-54879000	Weak transcription	Right Atrium	heart
10	chr8:54858400-54872600	Weak transcription	Lung	lung
11	chr8:54859000-54872200	Weak transcription	Aorta	Aorta
12	chr8:54859600-54881200	Weak transcription	Hela-S3	cervix
13	chr8:54859600-54885400	Weak transcription	K562	blood
14	chr8:54862000-54879200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:54862200-54872200	Weak transcription	Primary T cells from cord blood	blood
16	chr8:54862200-54879200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:54866000-54872000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:54866200-54872600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:54866400-54872000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:54866600-54872600	Weak transcription	Fetal Lung	lung
21	chr8:54866600-54872600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:54866600-54872600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:54866600-54873400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:54866600-54893600	Weak transcription	Fetal Kidney	kidney
25	chr8:54866800-54872000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr8:54866800-54872200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:54866800-54872600	Weak transcription	Fetal Stomach	stomach
28	chr8:54866800-54872800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:54866800-54873200	Weak transcription	Ovary	ovary
30	chr8:54866800-54875400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:54866800-54885200	Weak transcription	NH-A	brain
32	chr8:54866800-54898000	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:54866800-54898200	Weak transcription	Fetal Heart	heart
34	chr8:54867000-54872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:54867000-54872400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:54867000-54872600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:54867000-54872600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:54867000-54872600	Weak transcription	Adipose Nuclei	Adipose
39	chr8:54867000-54872600	Weak transcription	Osteobl	bone
40	chr8:54867000-54872800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr8:54867000-54872800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:54867000-54873000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr8:54867000-54873200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr8:54867000-54874200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:54867000-54875600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr8:54867000-54884800	Weak transcription	HUVEC	blood vessel
47	chr8:54867200-54871800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:54867200-54872600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr8:54867600-54872200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:54867600-54876000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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