Variant report

Variant	rs993639
Chromosome Location	chr8:102968316-102968317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102958971..102963759-chr8:102964426..102969369,7	MCF-7	breast:
2	chr8:102968258..102970175-chr8:102971587..102974473,2	MCF-7	breast:
3	chr8:102968161..102969952-chr8:102981485..102983246,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10097554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2119225	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2119226	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs2387332	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734601	0.87[ASN][1000 genomes]
rs479316	0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs484507	0.87[ASN][1000 genomes]
rs573618	0.87[ASN][1000 genomes]
rs7003289	0.92[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs718262	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs718263	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7820497	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9297315	0.87[ASN][1000 genomes]
rs9297316	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs995584	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.97[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102957600-102970200	Weak transcription	Esophagus	oesophagus
2	chr8:102961000-102971200	Weak transcription	Aorta	Aorta
3	chr8:102963000-102969600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:102963000-102969800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:102963200-102969800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:102963200-102973600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:102965200-102970800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:102965400-102969600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:102965400-102969800	Weak transcription	NHDF-Ad	bronchial
10	chr8:102965400-102971000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:102965400-102989800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:102965600-102968600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:102965600-102969600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:102965600-102969600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:102965600-102969800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:102965600-102969800	Weak transcription	Ovary	ovary
17	chr8:102965800-102968600	Weak transcription	Fetal Brain Male	brain
18	chr8:102965800-102969600	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:102966000-102969800	Weak transcription	Right Atrium	heart
20	chr8:102966200-102968400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:102966400-102968400	Weak transcription	Psoas Muscle	Psoas
22	chr8:102966600-102970000	Weak transcription	Left Ventricle	heart
23	chr8:102966800-102969600	Weak transcription	Fetal Heart	heart
24	chr8:102966800-102971000	Weak transcription	Right Ventricle	heart
25	chr8:102967000-102968400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:102967400-102972200	Weak transcription	GM12878-XiMat	blood
27	chr8:102968000-102968800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr8:102968200-102968800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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