Variant report

Variant	rs73214667
Chromosome Location	chr8:19498729-19498730
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	chr8:19497421..19499586-chr8:19613571..19616001,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147408	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10086135	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55651857	0.81[EUR][1000 genomes]
rs55659028	0.81[EUR][1000 genomes]
rs55726693	0.88[EUR][1000 genomes]
rs55898253	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56167026	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73214663	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73214666	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73214668	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73214672	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73214675	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73214677	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73214684	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1015448	chr8:19474715-19520367	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19482000-19520000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr8:19485400-19499200	Weak transcription	Placenta	Placenta
3	chr8:19485400-19500000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:19488800-19501200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:19489800-19500000	Weak transcription	Lung	lung
6	chr8:19491400-19499200	Weak transcription	Fetal Lung	lung
7	chr8:19495600-19500400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:19495800-19500200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr8:19495800-19508600	Weak transcription	Primary T cells from cord blood	blood
10	chr8:19496000-19499200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:19496000-19501200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:19496000-19502400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr8:19496000-19503000	Weak transcription	Pancreas	Pancrea
14	chr8:19496000-19503000	Weak transcription	Right Atrium	heart
15	chr8:19496000-19503000	Weak transcription	Spleen	Spleen
16	chr8:19496000-19504200	Weak transcription	Right Ventricle	heart
17	chr8:19496200-19500200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:19496200-19502600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:19496600-19499200	Weak transcription	HUVEC	blood vessel
20	chr8:19496800-19499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:19496800-19501600	Weak transcription	Primary B cells from cord blood	blood
22	chr8:19496800-19501800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:19497000-19498800	Weak transcription	HepG2	liver
24	chr8:19497000-19499600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr8:19497200-19499200	Enhancers	Hela-S3	cervix
26	chr8:19497200-19499400	Weak transcription	Brain Anterior Caudate	brain
27	chr8:19497400-19499200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:19497400-19499400	Weak transcription	Brain Angular Gyrus	brain
29	chr8:19497600-19499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:19497600-19500400	Flanking Active TSS	A549	lung
31	chr8:19497600-19502800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:19497800-19499000	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:19497800-19499200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:19497800-19499200	Weak transcription	Brain Substantia Nigra	brain
35	chr8:19497800-19499200	Enhancers	NHDF-Ad	bronchial
36	chr8:19497800-19499200	Enhancers	Osteobl	bone
37	chr8:19497800-19500400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:19497800-19501600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:19498200-19500400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:19498200-19501600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:19498200-19508200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr8:19498400-19500400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr8:19498400-19500400	Enhancers	NHLF	lung
44	chr8:19498600-19499000	Enhancers	Left Ventricle	heart
45	chr8:19498600-19499200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:19498600-19499600	Enhancers	Fetal Brain Male	brain
47	chr8:19498600-19500400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:19498600-19501000	Enhancers	Primary monocytes fromperipheralblood	blood

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