Variant report

Variant	rs7002269
Chromosome Location	chr8:104218443-104218444
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	chr8:104212684..104216362-chr8:104218392..104222186,3	MCF-7	breast:
2	chr8:104145448..104147385-chr8:104217856..104220311,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247081	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12541167	0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12543038	0.94[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12548629	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13279226	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1353212	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1353213	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16870243	0.98[ASN][1000 genomes]
rs16870245	0.98[ASN][1000 genomes]
rs16870249	0.98[ASN][1000 genomes]
rs17205332	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs17799604	0.87[ASN][1000 genomes]
rs2220825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs34185273	0.94[ASN][1000 genomes]
rs34337822	0.98[ASN][1000 genomes]
rs4734693	0.87[ASN][1000 genomes]
rs9656787	0.95[CHB][hapmap];0.84[ASN][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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS 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	45 gene(s)	inside rSNPs	diseases
4	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv14660	chr8:104182119-104245529	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104192800-104219200	Weak transcription	Aorta	Aorta
2	chr8:104193400-104220000	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:104193600-104220200	Weak transcription	Brain Anterior Caudate	brain
4	chr8:104197200-104218600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:104202400-104222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:104205200-104220200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:104207600-104220200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:104209400-104225400	Weak transcription	Brain Substantia Nigra	brain
9	chr8:104211000-104219200	Strong transcription	Primary hematopoietic stem cells	blood
10	chr8:104213600-104222200	Weak transcription	Gastric	stomach
11	chr8:104214600-104219000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:104215000-104222800	Enhancers	NHDF-Ad	bronchial
13	chr8:104215000-104224200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:104215600-104218600	Weak transcription	NHLF	lung
15	chr8:104215600-104218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:104215600-104219000	Weak transcription	HMEC	breast
17	chr8:104215600-104219600	Weak transcription	NH-A	brain
18	chr8:104215600-104220200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:104215600-104225000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:104216400-104219000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:104216800-104218800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:104216800-104219400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:104216800-104223200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:104217000-104218600	Enhancers	Adipose Nuclei	Adipose
25	chr8:104217000-104223800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:104217200-104219600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:104217200-104223600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:104217600-104218800	Weak transcription	Osteobl	bone
29	chr8:104217600-104219400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:104217600-104221200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:104217600-104222200	Weak transcription	Right Atrium	heart
32	chr8:104217800-104218800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:104217800-104222800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:104218000-104219200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:104218200-104219800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:104218400-104218800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:104218400-104219400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:104218400-104219800	Weak transcription	H1 Cell Line	embryonic stem cell

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