Variant report

Variant	rs380425
Chromosome Location	chr8:90862042-90862043
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 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	chr8:90860679..90862898-chr8:90864045..90867127,3	K562	blood:
4	chr8:90860872..90863947-chr8:90993603..90996503,3	K562	blood:
5	chr8:90858582..90866507-chr8:90866541..90873248,10	MCF-7	breast:
6	chr8:90861358..90862876-chr8:90877013..90879435,2	MCF-7	breast:
7	chr8:90860017..90862622-chr8:90932381..90934783,2	MCF-7	breast:
8	chr8:90859372..90863594-chr8:90985537..90991967,6	MCF-7	breast:
9	chr8:90860444..90862985-chr8:90893846..90895436,2	MCF-7	breast:
10	chr8:90858673..90862372-chr8:90995003..90998670,3	K562	blood:
11	chr8:90855265..90859400-chr8:90861352..90863644,3	K562	blood:
12	chr8:90861478..90863438-chr8:90864534..90866909,2	MCF-7	breast:
13	chr8:90859127..90860639-chr8:90860686..90863094,2	MCF-7	breast:
14	chr8:90733869..90736282-chr8:90859813..90862694,2	K562	blood:
15	chr8:90859033..90864870-chr8:90912637..90916570,15	MCF-7	breast:
16	chr8:90856651..90860319-chr8:90861646..90865925,3	K562	blood:
17	chr8:90855177..90868995-chr8:90994125..91001070,26	MCF-7	breast:
18	chr8:90860628..90863383-chr8:90929314..90932262,2	MCF-7	breast:

No data

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

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

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]
rs365871	0.87[EUR][1000 genomes]
rs366867	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs367640	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370282	0.82[JPT][hapmap]
rs376962	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs377897	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379015	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs381456	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs386587	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs386857	0.87[EUR][1000 genomes]
rs388866	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs390536	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs398959	0.82[EUR][1000 genomes]
rs400571	0.87[EUR][1000 genomes]
rs40250	0.87[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs40459	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs40547	0.82[JPT][hapmap]
rs40638	0.81[JPT][hapmap]
rs410577	0.87[EUR][1000 genomes]
rs410663	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs418634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs419890	0.94[ASN][1000 genomes]
rs42186	0.94[ASN][1000 genomes]
rs42346	0.81[JPT][hapmap]
rs42481	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs425140	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs432457	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447989	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90861000-90862400	Weak transcription	Hela-S3	cervix
2	chr8:90861000-90864600	Weak transcription	Aorta	Aorta
3	chr8:90861000-90866600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:90861000-90868400	Weak transcription	Ovary	ovary
5	chr8:90861000-90870200	Weak transcription	HMEC	breast
6	chr8:90861000-90871000	Weak transcription	Right Atrium	heart
7	chr8:90861200-90865000	Enhancers	A549	lung
8	chr8:90861200-90869600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:90861200-90869800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:90861400-90862400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:90861400-90869000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:90861600-90868200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:90861600-90868200	Weak transcription	HSMM	muscle
14	chr8:90861800-90869200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:90861800-90869200	Weak transcription	Brain Anterior Caudate	brain
16	chr8:90861800-90870200	Weak transcription	Brain Hippocampus Middle	brain

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