Variant report

Variant	rs73704933
Chromosome Location	chr8:126347401-126347402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126345442..126348175-chr8:126352080..126354376,2	MCF-7	breast:
2	chr8:126344683..126349065-chr8:126441599..126445443,4	MCF-7	breast:
3	chr8:126338417..126342692-chr8:126345063..126348300,5	K562	blood:
4	chr8:126338417..126340973-chr8:126346730..126348300,2	K562	blood:
5	chr8:126329552..126332451-chr8:126346573..126348088,2	MCF-7	breast:
6	chr8:126342278..126347810-chr8:126440203..126444121,7	K562	blood:
7	chr8:126344931..126347810-chr8:126440770..126444279,4	K562	blood:
8	chr8:126345301..126349169-chr8:126355838..126358002,3	K562	blood:
9	chr8:126342754..126344650-chr8:126346334..126348343,3	K562	blood:
10	chr8:126243523..126245735-chr8:126346026..126348956,2	MCF-7	breast:
11	chr8:126344782..126348434-chr8:126350693..126355502,7	K562	blood:
12	chr8:126345301..126348257-chr8:126356475..126358002,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10088674	0.85[AFR][1000 genomes]
rs10090983	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10094940	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10100523	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10101223	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10104088	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10105662	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10111234	1.00[EUR][1000 genomes]
rs10111261	0.95[AFR][1000 genomes]
rs10111919	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10481079	0.85[AFR][1000 genomes]
rs10481154	0.85[AFR][1000 genomes]
rs11994181	0.95[AFR][1000 genomes]
rs11996045	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28502126	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28609750	1.00[EUR][1000 genomes]
rs28620783	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28786389	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56704677	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57062304	1.00[EUR][1000 genomes]
rs58585963	0.85[AFR][1000 genomes]
rs7004396	1.00[EUR][1000 genomes]
rs73704922	0.86[AFR][1000 genomes]
rs73704932	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73704935	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73704936	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73704952	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7840900	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS 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	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126318600-126354600	Weak transcription	Ovary	ovary
2	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
3	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
4	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
7	chr8:126333000-126354200	Weak transcription	Fetal Lung	lung
8	chr8:126335600-126353200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:126336600-126354200	Weak transcription	Spleen	Spleen
10	chr8:126340000-126354200	Weak transcription	Esophagus	oesophagus
11	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:126341600-126354200	Weak transcription	Lung	lung
13	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:126342400-126355000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:126344000-126347800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr8:126344400-126352200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
18	chr8:126344800-126353800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:126345200-126353400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:126345400-126348600	Weak transcription	HMEC	breast
21	chr8:126345800-126347600	Enhancers	HSMMtube	muscle
22	chr8:126345800-126348000	Enhancers	Fetal Heart	heart
23	chr8:126346000-126348000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:126346000-126348800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:126346000-126348800	Enhancers	Fetal Intestine Large	intestine
26	chr8:126346200-126347600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr8:126346200-126347800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:126346400-126347600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr8:126346400-126347600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:126346400-126351200	Weak transcription	Adipose Nuclei	Adipose
31	chr8:126346600-126347600	Genic enhancers	Fetal Thymus	thymus
32	chr8:126346600-126347600	Enhancers	Left Ventricle	heart
33	chr8:126346600-126351800	Enhancers	GM12878-XiMat	blood
34	chr8:126346800-126347600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:126346800-126348600	Weak transcription	Gastric	stomach
36	chr8:126346800-126350200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:126346800-126350800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:126346800-126351200	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:126346800-126351200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:126346800-126351200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:126346800-126351400	Weak transcription	Brain Angular Gyrus	brain
42	chr8:126346800-126351600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:126346800-126351800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:126346800-126351800	Weak transcription	NH-A	brain
45	chr8:126346800-126352000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:126346800-126353000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:126346800-126353200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:126346800-126353400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr8:126346800-126353400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:126346800-126353800	Weak transcription	Fetal Intestine Small	intestine

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