Variant report

Variant	rs59320956
Chromosome Location	chr8:42778840-42778841
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42768008..42769709-chr8:42777234..42779010,2	K562	blood:
2	chr8:42768008..42770411-chr8:42777063..42779010,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs16891648	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891652	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55636430	1.00[AMR][1000 genomes]
rs55745135	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55870161	1.00[AMR][1000 genomes]
rs55908519	1.00[AMR][1000 genomes]
rs55959405	1.00[AMR][1000 genomes]
rs56313744	1.00[AMR][1000 genomes]
rs56384848	1.00[AMR][1000 genomes]
rs56789342	1.00[AMR][1000 genomes]
rs57012672	1.00[AMR][1000 genomes]
rs57180588	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57279972	1.00[AMR][1000 genomes]
rs57354259	1.00[AMR][1000 genomes]
rs57713224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57746820	1.00[AMR][1000 genomes]
rs57798571	1.00[AMR][1000 genomes]
rs58729340	1.00[AMR][1000 genomes]
rs59139251	1.00[AMR][1000 genomes]
rs59364656	1.00[AMR][1000 genomes]
rs60259766	1.00[AMR][1000 genomes]
rs60748981	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60960611	1.00[AMR][1000 genomes]
rs61356971	1.00[AMR][1000 genomes]
rs61468554	1.00[AMR][1000 genomes]
rs73675437	1.00[AMR][1000 genomes]
rs73675439	1.00[AMR][1000 genomes]
rs73675443	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675448	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675449	1.00[AMR][1000 genomes]
rs73675450	1.00[AMR][1000 genomes]
rs73675452	1.00[AMR][1000 genomes]
rs73675454	1.00[AMR][1000 genomes]
rs73675457	1.00[AMR][1000 genomes]
rs73675458	1.00[AMR][1000 genomes]
rs73675460	1.00[AMR][1000 genomes]
rs73675461	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	esv3391654	chr8:42772844-42799123	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
8	esv3374088	chr8:42772844-42802608	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42753600-42785800	Weak transcription	Esophagus	oesophagus
2	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
3	chr8:42754400-42806400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:42754600-42781800	Weak transcription	Hela-S3	cervix
5	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:42755000-42787600	Weak transcription	Fetal Brain Male	brain
7	chr8:42755800-42785800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr8:42759800-42781400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:42764800-42781800	Weak transcription	Placenta	Placenta
10	chr8:42764800-42787600	Weak transcription	Thymus	Thymus
11	chr8:42765400-42781800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:42766800-42806800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:42767200-42781400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:42767400-42780600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:42767400-42781000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:42768200-42780800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:42768200-42787600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:42768800-42781400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:42769200-42782000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr8:42769200-42785600	Weak transcription	Fetal Kidney	kidney
21	chr8:42769400-42781400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:42769400-42785800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr8:42769400-42786000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:42769800-42781000	Weak transcription	Primary T cells from cord blood	blood
25	chr8:42769800-42786000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:42769800-42787200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:42770400-42781000	Weak transcription	Primary B cells from cord blood	blood
28	chr8:42770600-42781400	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:42771400-42780800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:42771400-42781200	Weak transcription	Fetal Stomach	stomach
31	chr8:42771400-42788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:42771800-42787200	Weak transcription	GM12878-XiMat	blood
33	chr8:42772000-42781000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:42772000-42781800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:42772000-42785200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:42772200-42785600	Weak transcription	HSMM	muscle
37	chr8:42772400-42800800	Weak transcription	Colonic Mucosa	Colon
38	chr8:42772600-42779200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:42772600-42781400	Weak transcription	Aorta	Aorta
40	chr8:42772600-42785600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:42772600-42785800	Weak transcription	Brain Angular Gyrus	brain
42	chr8:42772600-42786000	Weak transcription	Ovary	ovary
43	chr8:42772600-42789800	Weak transcription	Small Intestine	intestine
44	chr8:42772600-42815400	Weak transcription	Gastric	stomach
45	chr8:42772600-42815400	Weak transcription	Psoas Muscle	Psoas
46	chr8:42772800-42781200	Weak transcription	Fetal Intestine Small	intestine
47	chr8:42772800-42785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:42773400-42781000	Weak transcription	HepG2	liver
49	chr8:42773400-42785600	Weak transcription	Liver	Liver
50	chr8:42774200-42806400	Weak transcription	Lung	lung

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