Variant report

Variant	rs3107194
Chromosome Location	chr8:124184067-124184068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124178849..124184750-chr8:124201276..124205206,6	K562	blood:
2	chr8:124183395..124185998-chr8:124186648..124190984,3	K562	blood:
3	chr8:124182988..124185902-chr8:124226809..124229488,2	MCF-7	breast:
4	chr8:124178110..124181504-chr8:124183204..124185869,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266324	Chromatin interaction
ENSG00000253410	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10096018	1.00[ASN][1000 genomes]
rs11780863	0.87[ASN][1000 genomes]
rs1563015	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1563016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1563017	0.98[ASN][1000 genomes]
rs1670171	0.81[CHB][hapmap]
rs1670173	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1670174	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1670178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1670182	0.86[ASN][1000 genomes]
rs1670188	0.86[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]
rs1670189	0.86[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap]
rs1670190	0.85[CHD][hapmap]
rs1713738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17322971	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17323019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17375962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17376270	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17376305	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2385072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs28616192	0.99[ASN][1000 genomes]
rs3107193	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3739291	1.00[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs4300008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs55633424	0.99[ASN][1000 genomes]
rs55720148	0.99[ASN][1000 genomes]
rs56069069	0.99[ASN][1000 genomes]
rs62521817	0.99[ASN][1000 genomes]
rs62521818	0.99[ASN][1000 genomes]
rs62521819	0.98[ASN][1000 genomes]
rs62521820	0.99[ASN][1000 genomes]
rs62521821	0.99[ASN][1000 genomes]
rs62521822	1.00[ASN][1000 genomes]
rs62521823	1.00[ASN][1000 genomes]
rs6987091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6987128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6987216	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7001536	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7008277	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7011195	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7011341	0.85[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7822076	1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];1.00[ASN][1000 genomes]
rs7831175	1.00[ASN][1000 genomes]
rs896681	0.84[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs9643179	0.93[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124178800-124194000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:124179800-124186000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:124180200-124185200	Weak transcription	A549	lung
4	chr8:124180800-124185800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:124181000-124186400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:124181000-124186400	Weak transcription	HMEC	breast
7	chr8:124181200-124186400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:124181400-124186000	Weak transcription	Esophagus	oesophagus
9	chr8:124181400-124188600	Enhancers	K562	blood
10	chr8:124181800-124184600	Weak transcription	Hela-S3	cervix
11	chr8:124183200-124184200	Enhancers	HepG2	liver

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