Variant report

Variant	rs7006189
Chromosome Location	chr8:78031800-78031801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11778781	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12677707	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680110	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12680335	0.81[EUR][1000 genomes]
rs13265822	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13265936	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13267803	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13268651	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13269590	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13279459	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1377246	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1377248	0.92[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1377254	0.81[EUR][1000 genomes]
rs1452808	0.85[ASN][1000 genomes]
rs1452832	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28719703	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4147343	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7016358	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7016911	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891045	chr8:77998659-78477561	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1020007	chr8:78021376-78059834	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78030000-78031800	Enhancers	Osteobl	bone
2	chr8:78030000-78033000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:78030000-78033000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr8:78030200-78032800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:78030200-78033200	Enhancers	NHEK	skin
6	chr8:78030400-78031800	Enhancers	GM12878-XiMat	blood
7	chr8:78030400-78032800	Enhancers	Hela-S3	cervix
8	chr8:78030600-78031800	Flanking Active TSS	HUVEC	blood vessel
9	chr8:78030600-78032800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:78030600-78032800	Enhancers	HSMMtube	muscle
11	chr8:78030600-78033000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:78030800-78031800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr8:78030800-78032800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:78030800-78032800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:78031000-78032400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:78031000-78033000	Enhancers	NH-A	brain
17	chr8:78031200-78032800	Enhancers	HSMM	muscle
18	chr8:78031200-78033000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:78031200-78033600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:78031400-78032800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:78031400-78032800	Enhancers	Fetal Muscle Leg	muscle
22	chr8:78031400-78032800	Enhancers	Fetal Stomach	stomach
23	chr8:78031400-78033000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr8:78031600-78032000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:78031600-78033800	Weak transcription	HMEC	breast
26	chr8:78031800-78032200	Weak transcription	Osteobl	bone
27	chr8:78031800-78032800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:78031800-78033200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:78031800-78033400	Enhancers	HUVEC	blood vessel

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