Variant report

Variant	rs7001540
Chromosome Location	chr8:106800428-106800429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1442323	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1470220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16873771	1.00[AMR][1000 genomes]
rs57293369	1.00[AMR][1000 genomes]
rs6987194	1.00[AMR][1000 genomes]
rs73293419	1.00[AMR][1000 genomes]
rs73293443	1.00[AMR][1000 genomes]
rs73293445	1.00[AMR][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	nsv1021369	chr8:106493317-107243322	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv831418	chr8:106648456-106833333	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv891260	chr8:106737459-106808078	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:106782200-106800800	Weak transcription	K562	blood
2	chr8:106782800-106809000	Weak transcription	NH-A	brain
3	chr8:106783200-106813200	Weak transcription	Psoas Muscle	Psoas
4	chr8:106783200-106813200	Weak transcription	Right Ventricle	heart
5	chr8:106783400-106809000	Weak transcription	Aorta	Aorta
6	chr8:106787600-106809000	Weak transcription	Ovary	ovary
7	chr8:106791800-106813800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:106792200-106809400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:106792200-106813200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:106792600-106800600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:106792600-106809000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:106792800-106809000	Weak transcription	Adipose Nuclei	Adipose
13	chr8:106796600-106823600	Weak transcription	HUVEC	blood vessel
14	chr8:106798000-106810800	Weak transcription	Left Ventricle	heart
15	chr8:106799200-106801000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:106799200-106801200	Enhancers	Fetal Lung	lung
17	chr8:106799400-106800600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:106799800-106801200	Enhancers	NHEK	skin
19	chr8:106799800-106801400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:106800000-106800800	Weak transcription	Esophagus	oesophagus
21	chr8:106800000-106801200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:106800000-106801200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:106800000-106808800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:106800200-106814000	Weak transcription	Fetal Heart	heart

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