Variant report

Variant	rs6997475
Chromosome Location	chr8:104196742-104196743
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:104194826..104196898-chr8:104201922..104204507,2	MCF-7	breast:
2	chr8:104195747..104198501-chr9:114923149..114925331,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11989069	1.00[MEX][hapmap];0.85[TSI][hapmap]
rs16870122	1.00[MEX][hapmap]
rs16870125	1.00[MEX][hapmap]
rs16870240	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16870322	1.00[MEX][hapmap];0.85[TSI][hapmap]
rs2201369	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2201370	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3736045	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3808558	1.00[MEX][hapmap];0.85[TSI][hapmap]
rs57766637	0.93[EUR][1000 genomes]
rs60751214	0.93[EUR][1000 genomes]
rs6985929	0.93[EUR][1000 genomes]
rs7002454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs7005789	0.93[EUR][1000 genomes]
rs73283939	0.93[EUR][1000 genomes]
rs73283943	0.93[EUR][1000 genomes]
rs73283949	0.93[EUR][1000 genomes]
rs7817074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs7818987	0.93[EUR][1000 genomes]
rs7822939	0.93[EUR][1000 genomes]
rs7827146	1.00[MEX][hapmap];0.85[TSI][hapmap]
rs7835655	0.93[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	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104187800-104200800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:104191400-104198200	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:104192800-104219200	Weak transcription	Aorta	Aorta
4	chr8:104193000-104198200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:104193000-104204800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:104193000-104209000	Weak transcription	Brain Substantia Nigra	brain
7	chr8:104193400-104220000	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:104193600-104201800	Weak transcription	Spleen	Spleen
9	chr8:104193600-104220200	Weak transcription	Brain Anterior Caudate	brain
10	chr8:104193800-104198600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:104194200-104217600	Weak transcription	Fetal Brain Female	brain
12	chr8:104194400-104196800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:104195000-104200000	Enhancers	NHDF-Ad	bronchial
14	chr8:104195000-104200200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:104195200-104196800	Weak transcription	Fetal Thymus	thymus
16	chr8:104195200-104197000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:104195400-104196800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:104195600-104200000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:104195800-104197000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:104195800-104199600	Enhancers	NHLF	lung
21	chr8:104196200-104196800	Enhancers	NH-A	brain
22	chr8:104196200-104197600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:104196200-104197600	Enhancers	HUVEC	blood vessel
24	chr8:104196200-104198600	Enhancers	HSMMtube	muscle
25	chr8:104196400-104196800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:104196400-104197200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:104196400-104197200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr8:104196400-104197600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr8:104196400-104198800	Enhancers	HSMM	muscle
30	chr8:104196400-104200000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:104196600-104196800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr8:104196600-104197000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:104196600-104197000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:104196600-104197000	Strong transcription	Brain Angular Gyrus	brain
35	chr8:104196600-104197400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:104196600-104197600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:104196600-104197600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:104196600-104197600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:104196600-104197600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr8:104196600-104197600	Flanking Active TSS	Osteobl	bone
41	chr8:104196600-104198600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:104196600-104201800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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