Variant report

Variant	rs418634
Chromosome Location	chr8:90859697-90859698
allele	C/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90858881..90863528-chr8:90995317..90998498,11	MCF-7	breast:
2	chr8:90859420..90866965-chr8:90912674..90917180,23	MCF-7	breast:
3	chr8:90858046..90859751-chr8:90913638..90916071,2	K562	blood:
4	chr8:90859490..90861951-chr8:90897017..90899382,2	MCF-7	breast:
5	chr8:90858582..90866507-chr8:90866541..90873248,10	MCF-7	breast:
6	chr8:90859372..90863594-chr8:90985537..90991967,6	MCF-7	breast:
7	chr8:90859127..90860639-chr8:90860686..90863094,2	MCF-7	breast:
8	chr8:90858673..90862372-chr8:90995003..90998670,3	K562	blood:
9	chr8:90859033..90864870-chr8:90912637..90916570,15	MCF-7	breast:
10	chr8:90859189..90861523-chr8:90887641..90890521,4	MCF-7	breast:
11	chr8:90855177..90868995-chr8:90994125..91001070,26	MCF-7	breast:
12	chr8:90769536..90771377-chr8:90858098..90861015,2	MCF-7	breast:
13	chr8:90856651..90860319-chr8:90861646..90865925,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12675822	0.84[ASN][1000 genomes]
rs12679902	0.84[ASN][1000 genomes]
rs12680009	0.84[ASN][1000 genomes]
rs13277948	0.84[ASN][1000 genomes]
rs2189025	0.83[ASN][1000 genomes]
rs366867	0.95[ASN][1000 genomes]
rs367640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs370282	0.82[JPT][hapmap]
rs374957	0.87[EUR][1000 genomes]
rs376962	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs377897	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs379015	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs380425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs381456	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs386587	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs388866	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs390536	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs39519	0.89[EUR][1000 genomes]
rs39771	0.90[EUR][1000 genomes]
rs39772	0.89[EUR][1000 genomes]
rs40250	0.87[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40459	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40547	0.82[JPT][hapmap]
rs40638	0.81[JPT][hapmap]
rs410663	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs419890	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs42186	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs42346	0.81[JPT][hapmap]
rs42481	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs425140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs425312	0.90[EUR][1000 genomes]
rs426240	0.89[EUR][1000 genomes]
rs427854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs43136	0.90[EUR][1000 genomes]
rs43229	0.90[EUR][1000 genomes]
rs432457	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs438485	0.87[EUR][1000 genomes]
rs447989	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90847600-90860600	Weak transcription	Aorta	Aorta
2	chr8:90850200-90860600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:90850400-90860200	Weak transcription	GM12878-XiMat	blood
4	chr8:90853200-90860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:90854000-90860200	Weak transcription	A549	lung
6	chr8:90854000-90860600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:90854000-90860600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:90854000-90860600	Weak transcription	NHLF	lung
9	chr8:90854200-90860600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:90854200-90860600	Weak transcription	HUVEC	blood vessel
11	chr8:90854400-90860200	Weak transcription	Osteobl	bone
12	chr8:90854600-90860200	Weak transcription	NHDF-Ad	bronchial
13	chr8:90854600-90860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:90854600-90860600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:90854800-90860200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:90855000-90860200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:90857600-90860200	Weak transcription	HSMM	muscle
18	chr8:90857600-90860600	Weak transcription	Brain Germinal Matrix	brain
19	chr8:90857800-90860600	Weak transcription	K562	blood

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