Variant report

Variant	rs930234
Chromosome Location	chr8:108420214-108420215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108296299..108298566-chr8:108418407..108420457,2	K562	blood:
2	chr8:108419893..108422484-chr8:108427371..108429959,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12677137	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678509	0.81[EUR][1000 genomes]
rs13250584	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268748	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1433194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16876199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16876200	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1821305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60569707	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs930235	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108399800-108421000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:108418600-108421200	Enhancers	Fetal Kidney	kidney
3	chr8:108418800-108422800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:108419000-108423000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:108419200-108420600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:108419200-108421000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:108419200-108421200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:108419200-108421800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr8:108419400-108420400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:108419600-108421400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:108419600-108421400	Enhancers	Primary T cells from cord blood	blood
12	chr8:108420000-108420400	Flanking Active TSS	Fetal Lung	lung
13	chr8:108420000-108421600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:108420000-108427200	Weak transcription	NHLF	lung
15	chr8:108420200-108421000	Enhancers	Ovary	ovary
16	chr8:108420200-108421400	Weak transcription	Fetal Thymus	thymus
17	chr8:108420200-108421600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:108420200-108422200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:108420200-108422400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:108420200-108422800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:108420200-108429000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:108420200-108441400	Weak transcription	Aorta	Aorta

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