Variant report

Variant	rs1283674
Chromosome Location	chr8:108430593-108430594
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1283673	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs892248	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1283674	MSL3L2	trans	cerebellum	SCAN
rs1283674	TFG	trans	cerebellum	SCAN
rs1283674	ABRA	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108420200-108441400	Weak transcription	Aorta	Aorta
2	chr8:108421800-108433800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:108421800-108448200	Weak transcription	Psoas Muscle	Psoas
4	chr8:108423000-108431200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:108427400-108432600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:108427800-108432800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:108427800-108433600	Weak transcription	NHLF	lung
8	chr8:108428000-108433200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:108428000-108433200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:108428000-108433200	Weak transcription	HSMM	muscle
11	chr8:108428000-108433200	Weak transcription	Osteobl	bone
12	chr8:108428400-108434000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:108429000-108431600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:108429800-108433400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:108430000-108431600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:108430200-108433600	Weak transcription	Ovary	ovary
17	chr8:108430400-108433400	Enhancers	H9 Derived Neuron 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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