Variant report

Variant	rs7842293
Chromosome Location	chr8:87363751-87363752
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87361670..87363931-chr8:87364604..87369462,4	K562	blood:
2	chr8:87362200..87363935-chr8:87364604..87368917,3	K562	blood:
3	chr8:87358214..87359951-chr8:87363594..87365378,2	K562	blood:
4	chr8:87361970..87363918-chr8:87368316..87370352,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1865864	0.81[EUR][1000 genomes]
rs4332109	0.89[EUR][1000 genomes]
rs4443643	0.89[EUR][1000 genomes]
rs4451291	0.89[EUR][1000 genomes]
rs58223572	0.89[EUR][1000 genomes]
rs59329724	0.89[EUR][1000 genomes]
rs59686387	0.89[EUR][1000 genomes]
rs60371751	0.89[EUR][1000 genomes]
rs61291838	0.89[EUR][1000 genomes]
rs6471315	0.85[EUR][1000 genomes]
rs6982851	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6988382	0.89[EUR][1000 genomes]
rs7008034	0.89[EUR][1000 genomes]
rs7015160	0.89[EUR][1000 genomes]
rs7018101	0.81[EUR][1000 genomes]
rs73254767	0.89[EUR][1000 genomes]
rs73257052	0.81[EUR][1000 genomes]
rs73257083	0.81[EUR][1000 genomes]
rs73257093	0.81[EUR][1000 genomes]
rs73260982	0.82[AFR][1000 genomes]
rs73262907	0.89[EUR][1000 genomes]
rs73262914	0.89[EUR][1000 genomes]
rs73262917	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73268833	0.89[EUR][1000 genomes]
rs73268850	0.89[EUR][1000 genomes]
rs73268853	0.89[EUR][1000 genomes]
rs73268855	0.89[EUR][1000 genomes]
rs73268878	0.89[EUR][1000 genomes]
rs73268893	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73271028	0.89[EUR][1000 genomes]
rs73271033	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73273140	0.82[AFR][1000 genomes]
rs7825890	0.81[EUR][1000 genomes]
rs7833543	0.89[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	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS 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	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87355800-87363800	Weak transcription	Esophagus	oesophagus
2	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:87356800-87403800	Weak transcription	Aorta	Aorta
4	chr8:87357000-87366400	Weak transcription	Fetal Lung	lung
5	chr8:87357000-87375600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:87357200-87365000	Weak transcription	Brain Substantia Nigra	brain
7	chr8:87357200-87366000	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:87357200-87368800	Weak transcription	Primary B cells from cord blood	blood
9	chr8:87357200-87369600	Weak transcription	HSMM	muscle
10	chr8:87357400-87364400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:87357400-87364600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:87357400-87364600	Weak transcription	Lung	lung
13	chr8:87357400-87367200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:87357400-87368000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:87357400-87372600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:87357600-87364200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:87357600-87364800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:87357600-87364800	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:87357600-87364800	Weak transcription	K562	blood
21	chr8:87357600-87366000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:87357600-87368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:87357600-87368800	Weak transcription	Brain Angular Gyrus	brain
24	chr8:87357600-87374600	Weak transcription	HUVEC	blood vessel
25	chr8:87357600-87382200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr8:87357800-87367400	Weak transcription	Fetal Intestine Large	intestine
27	chr8:87357800-87368600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:87357800-87381000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr8:87357800-87382000	Weak transcription	Placenta	Placenta
30	chr8:87357800-87383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
32	chr8:87358000-87363800	Weak transcription	Ovary	ovary
33	chr8:87358000-87366600	Weak transcription	Colonic Mucosa	Colon
34	chr8:87358000-87369000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr8:87358400-87364200	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr8:87358400-87364800	Weak transcription	A549	lung
37	chr8:87358400-87367400	Weak transcription	Hela-S3	cervix
38	chr8:87358600-87365000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:87358800-87366600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:87359000-87383600	Weak transcription	Dnd41	blood
41	chr8:87359800-87372600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:87360600-87369800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr8:87360800-87364000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:87361200-87364200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr8:87361600-87363800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:87361600-87364200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:87361600-87364200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:87361600-87364400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:87361600-87364800	Weak transcription	Fetal Stomach	stomach
50	chr8:87361800-87363800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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