Variant report

Variant	rs1347382
Chromosome Location	chr8:69490129-69490130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:69489517..69490141-chr8:69685805..69686684,3	MCF-7	breast:
2	chr8:69489824..69491540-chr8:69533022..69534963,2	MCF-7	breast:
3	chr8:69489841..69490343-chr8:69685997..69686537,2	MCF-7	breast:
4	chr8:69488234..69491524-chr8:69761683..69765602,4	MCF-7	breast:
5	chr8:69490101..69493148-chr8:69643448..69647067,3	MCF-7	breast:
6	chr8:69489797..69490313-chr8:70437582..70438561,2	K562	blood:
7	chr8:69487873..69492018-chr8:69764164..69768555,7	MCF-7	breast:
8	chr8:69488341..69491069-chr8:69684855..69686356,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254337	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11984913	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11987961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11988777	0.90[ASN][1000 genomes]
rs11992043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11992254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11997770	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1369232	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1434920	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1434940	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs16934696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs16934715	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs16934717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1836519	0.97[ASN][1000 genomes]
rs2117492	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs2289831	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2289832	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2380473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2380475	1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2380476	0.90[ASN][1000 genomes]
rs2380477	0.89[ASN][1000 genomes]
rs2380478	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs2890431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2890432	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3816315	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4455810	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4559226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4559227	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4576413	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.98[ASN][1000 genomes]
rs4995316	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs55686711	0.93[ASN][1000 genomes]
rs55880104	0.93[ASN][1000 genomes]
rs56042829	0.93[ASN][1000 genomes]
rs56093828	0.93[ASN][1000 genomes]
rs56765555	0.97[ASN][1000 genomes]
rs57010866	0.81[ASN][1000 genomes]
rs59050152	0.87[ASN][1000 genomes]
rs59121536	0.93[ASN][1000 genomes]
rs59212785	0.81[ASN][1000 genomes]
rs60521673	0.89[ASN][1000 genomes]
rs60643160	0.92[ASN][1000 genomes]
rs60940064	0.93[ASN][1000 genomes]
rs6472406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6472407	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6983285	0.93[ASN][1000 genomes]
rs6984964	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6989036	0.88[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs6989387	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6989643	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7000982	0.93[ASN][1000 genomes]
rs7003926	0.93[ASN][1000 genomes]
rs7004410	0.93[ASN][1000 genomes]
rs7009978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7010609	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73266585	0.82[ASN][1000 genomes]
rs73268455	0.93[ASN][1000 genomes]
rs73268457	0.93[ASN][1000 genomes]
rs73268472	0.93[ASN][1000 genomes]
rs73268481	0.93[ASN][1000 genomes]
rs73268487	0.93[ASN][1000 genomes]
rs73683561	0.93[ASN][1000 genomes]
rs7814002	0.93[ASN][1000 genomes]
rs7822626	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7826286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7826288	0.93[ASN][1000 genomes]
rs7831426	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs7840734	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7841933	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs892705	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9692797	0.93[ASN][1000 genomes]
rs9692812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9693077	0.90[ASN][1000 genomes]
rs9693078	0.93[ASN][1000 genomes]
rs9694215	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[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	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv890981	chr8:69413110-69534542	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv890983	chr8:69447339-69503062	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv890984	chr8:69482825-69556111	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69489600-69490800	Enhancers	HSMM	muscle
2	chr8:69490000-69490400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:69490000-69490600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:69490000-69490600	Enhancers	Osteobl	bone
5	chr8:69490000-69490800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:69490000-69490800	Enhancers	Muscle Satellite Cultured Cells	--

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