Variant report

Variant	rs62527638
Chromosome Location	chr8:104179505-104179506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16870235	1.00[AFR][1000 genomes]
rs56356799	1.00[AFR][1000 genomes]
rs62527631	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62527635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62527640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62527644	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62527645	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62527646	1.00[AFR][1000 genomes]
rs62527647	1.00[AFR][1000 genomes]
rs62527649	1.00[AFR][1000 genomes]
rs62527651	1.00[AFR][1000 genomes]
rs62527652	1.00[AFR][1000 genomes]
rs7009527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72671378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72673313	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104166200-104179800	Weak transcription	Spleen	Spleen
2	chr8:104176000-104179800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:104177000-104179600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:104177400-104179800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:104177600-104186600	Weak transcription	Aorta	Aorta
6	chr8:104178200-104181000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:104178200-104181400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:104178400-104182200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:104178400-104182600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:104178400-104183800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:104178600-104183800	Weak transcription	Brain Angular Gyrus	brain
12	chr8:104178600-104184800	Weak transcription	Brain Substantia Nigra	brain
13	chr8:104178800-104179600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:104178800-104179800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:104178800-104181800	Weak transcription	Brain Anterior Caudate	brain
16	chr8:104178800-104183800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:104179200-104180400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:104179200-104185400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:104179400-104183200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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