Variant report

Variant	rs4301463
Chromosome Location	chr8:131469609-131469610
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	chr8:131454706..131459236-chr8:131468447..131471973,4	MCF-7	breast:
2	chr8:131469282..131471621-chr8:131555231..131557066,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11775398	0.83[TSI][hapmap]
rs11779293	0.82[CHD][hapmap];0.89[TSI][hapmap]
rs11780644	0.91[CEU][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs11784988	0.83[TSI][hapmap]
rs11785806	0.83[TSI][hapmap]
rs59710753	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61548798	1.00[ASN][1000 genomes]
rs6470821	0.92[EUR][1000 genomes]
rs6997802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011034	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs72726214	0.81[EUR][1000 genomes]
rs72726218	0.80[EUR][1000 genomes]
rs7461213	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7461215	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr8:131461400-131470000	Weak transcription	HMEC	breast
2	chr8:131464800-131470000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:131465400-131486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:131465800-131469800	Weak transcription	Fetal Lung	lung
5	chr8:131466000-131476800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:131466200-131469800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:131466400-131470000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:131468600-131470400	Enhancers	NHLF	lung
9	chr8:131468800-131470400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:131468800-131470400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:131469200-131470200	Enhancers	NH-A	brain
12	chr8:131469200-131470400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:131469400-131469800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:131469400-131469800	Enhancers	Fetal Thymus	thymus
15	chr8:131469400-131470400	Enhancers	Brain Germinal Matrix	brain
16	chr8:131469400-131470600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:131469600-131469800	Enhancers	Stomach Smooth Muscle	stomach
18	chr8:131469600-131470200	Enhancers	Fetal Muscle Leg	muscle
19	chr8:131469600-131470400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:131469600-131470400	Enhancers	Fetal Stomach	stomach
21	chr8:131469600-131470400	Enhancers	NHDF-Ad	bronchial
22	chr8:131469600-131470800	Enhancers	GM12878-XiMat	blood

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