Variant report

Variant	rs73282197
Chromosome Location	chr8:104248569-104248570
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs34542607	1.00[AMR][1000 genomes]
rs55855345	1.00[AMR][1000 genomes]
rs61185155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282154	0.81[AFR][1000 genomes]
rs73282162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283913	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283915	1.00[AMR][1000 genomes]
rs73283918	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283922	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73701722	1.00[AMR][1000 genomes]
rs73701724	1.00[AMR][1000 genomes]
rs73701730	1.00[AMR][1000 genomes]
rs73701733	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104242400-104251200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:104242400-104251200	Weak transcription	HMEC	breast
3	chr8:104242800-104250200	Weak transcription	Fetal Brain Female	brain
4	chr8:104243200-104248600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:104244000-104251200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:104244000-104268400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:104244200-104251400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:104244600-104257400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:104245600-104254800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:104248000-104249000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:104248000-104249200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:104248000-104249600	Enhancers	Osteobl	bone
13	chr8:104248000-104249800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:104248000-104249800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:104248200-104249600	Enhancers	NHDF-Ad	bronchial
16	chr8:104248400-104259800	Weak transcription	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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