Variant report

Variant	rs40380
Chromosome Location	chr8:90815331-90815332
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90810688..90812516-chr8:90813829..90816588,2	MCF-7	breast:
2	chr8:90808879..90811361-chr8:90813296..90815805,3	K562	blood:
3	chr8:90812604..90815452-chr8:90823390..90825028,2	MCF-7	breast:
4	chr8:90768512..90770810-chr8:90812946..90815331,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10956271	0.82[CHB][hapmap]
rs11776336	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11995005	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs12156013	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13254219	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13274635	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16893139	0.82[CHB][hapmap]
rs16900429	0.84[LWK][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap]
rs218935	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs218938	0.96[CEU][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2293808	0.82[CHB][hapmap]
rs2293809	0.82[CHB][hapmap]
rs370282	0.82[CEU][hapmap]
rs383592	0.89[CEU][hapmap]
rs39501	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs39502	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs39508	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs39509	0.89[CEU][hapmap]
rs39511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39512	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs397540	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39762	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs39763	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs39766	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398701	0.82[EUR][1000 genomes]
rs40247	0.85[CEU][hapmap]
rs40248	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40378	0.85[EUR][1000 genomes]
rs40379	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40453	0.85[CEU][hapmap]
rs40454	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40547	0.82[CEU][hapmap]
rs40635	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40638	0.82[CEU][hapmap]
rs406680	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411279	0.85[CEU][hapmap]
rs411310	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs416324	0.89[CEU][hapmap]
rs42343	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs42346	0.82[CEU][hapmap]
rs42479	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs42480	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.80[LWK][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425721	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs426779	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs428484	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs43133	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs434264	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs450332	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs51331	0.89[CEU][hapmap]
rs7815039	0.84[EUR][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
2	chr8:90805400-90817000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:90810400-90817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:90813800-90815800	Weak transcription	Placenta	Placenta
5	chr8:90814000-90817000	Weak transcription	Stomach Mucosa	stomach
6	chr8:90814000-90817800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:90814000-90824600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:90814200-90816200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:90814200-90817000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:90814200-90817000	Weak transcription	Pancreas	Pancrea
11	chr8:90814200-90817000	Weak transcription	NH-A	brain
12	chr8:90814400-90816800	Weak transcription	K562	blood
13	chr8:90814600-90817000	Weak transcription	A549	lung
14	chr8:90814600-90823400	Weak transcription	NHDF-Ad	bronchial
15	chr8:90814800-90816800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:90814800-90817000	Weak transcription	HepG2	liver

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