Variant report

Variant	rs2387333
Chromosome Location	chr8:102965754-102965755
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	chr8:102958971..102963759-chr8:102964426..102969369,7	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13272417	0.85[CEU][hapmap];0.86[GIH][hapmap];0.91[TSI][hapmap];0.89[EUR][1000 genomes]
rs16868791	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16868795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs481750	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs513456	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs575485	0.94[EUR][1000 genomes];0.94[ASN][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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102957600-102970200	Weak transcription	Esophagus	oesophagus
2	chr8:102960800-102966400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:102961000-102971200	Weak transcription	Aorta	Aorta
4	chr8:102962800-102966200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:102963000-102968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:102963000-102969600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:102963000-102969800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:102963200-102968200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:102963200-102969800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:102963200-102973600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:102963600-102966000	Enhancers	Right Atrium	heart
12	chr8:102964200-102966000	Enhancers	GM12878-XiMat	blood
13	chr8:102964400-102966400	Enhancers	Fetal Muscle Trunk	muscle
14	chr8:102964400-102966600	Enhancers	Left Ventricle	heart
15	chr8:102964400-102966800	Enhancers	Right Ventricle	heart
16	chr8:102964600-102965800	Enhancers	Fetal Brain Male	brain
17	chr8:102964600-102965800	Enhancers	Fetal Muscle Leg	muscle
18	chr8:102964600-102966400	Enhancers	Psoas Muscle	Psoas
19	chr8:102964600-102967000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr8:102965000-102966200	Enhancers	Fetal Brain Female	brain
21	chr8:102965200-102970800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:102965400-102966200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:102965400-102969600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:102965400-102969800	Weak transcription	NHDF-Ad	bronchial
25	chr8:102965400-102971000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:102965400-102989800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:102965600-102966000	Flanking Active TSS	Fetal Heart	heart
28	chr8:102965600-102968600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:102965600-102969600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:102965600-102969600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:102965600-102969800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:102965600-102969800	Weak transcription	Ovary	ovary

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