Variant report

Variant	rs73704519
Chromosome Location	chr8:126040318-126040319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126029769..126032617-chr8:126037247..126040729,3	MCF-7	breast:
2	chr8:126034787..126037250-chr8:126038544..126040389,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104549	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10093770	0.95[EUR][1000 genomes]
rs10094264	0.95[EUR][1000 genomes]
rs11542889	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11997328	0.95[EUR][1000 genomes]
rs16900178	0.95[EUR][1000 genomes]
rs16900217	1.00[EUR][1000 genomes]
rs2272682	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2303530	0.88[AMR][1000 genomes]
rs28431161	0.95[EUR][1000 genomes]
rs28600176	0.95[EUR][1000 genomes]
rs28803012	0.91[EUR][1000 genomes]
rs56005734	0.95[EUR][1000 genomes]
rs60909322	0.95[EUR][1000 genomes]
rs6470329	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7007276	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704517	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73704523	0.95[EUR][1000 genomes]
rs73704526	0.95[EUR][1000 genomes]
rs73704529	0.88[EUR][1000 genomes]
rs9940	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030748	chr8:126012282-126137840	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv539743	chr8:126012282-126137840	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126013400-126040400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr8:126013400-126042600	Weak transcription	Right Ventricle	heart
3	chr8:126013600-126052200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:126014600-126044000	Weak transcription	Stomach Mucosa	stomach
5	chr8:126015400-126098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:126015600-126041000	Strong transcription	Fetal Thymus	thymus
7	chr8:126016000-126041400	Strong transcription	Liver	Liver
8	chr8:126019600-126071800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:126021200-126041200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:126023600-126099000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr8:126024600-126043200	Weak transcription	Fetal Brain Male	brain
12	chr8:126027600-126044400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:126027800-126040800	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr8:126028200-126044800	Strong transcription	Primary B cells from cord blood	blood
15	chr8:126028200-126072000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:126028400-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:126028600-126097400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr8:126028800-126041800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:126028800-126072200	Strong transcription	Adipose Nuclei	Adipose
20	chr8:126029000-126041000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:126029400-126044000	Weak transcription	Pancreas	Pancrea
22	chr8:126029600-126066200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:126029800-126097400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr8:126029800-126103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:126030600-126042200	Weak transcription	Psoas Muscle	Psoas
26	chr8:126030600-126049800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:126031200-126058800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:126031800-126046400	Weak transcription	Colonic Mucosa	Colon
29	chr8:126031800-126049800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:126032000-126043200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:126032000-126043200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:126032000-126044200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:126032000-126050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:126032800-126050600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:126033400-126044000	Weak transcription	HepG2	liver
36	chr8:126034400-126044200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:126035200-126041000	Strong transcription	Fetal Lung	lung
38	chr8:126035200-126041200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr8:126036400-126041600	Weak transcription	NHEK	skin
40	chr8:126036400-126042400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:126036400-126043000	Weak transcription	Aorta	Aorta
42	chr8:126036400-126043800	Weak transcription	Esophagus	oesophagus
43	chr8:126036400-126043800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:126036400-126044000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr8:126036400-126051200	Weak transcription	Small Intestine	intestine
46	chr8:126036600-126040400	Weak transcription	Brain Germinal Matrix	brain
47	chr8:126036600-126042400	Weak transcription	HSMMtube	muscle
48	chr8:126036600-126042800	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:126036600-126043800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:126036600-126043800	Weak transcription	Hela-S3	cervix

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