Variant report

Variant	rs376962
Chromosome Location	chr8:90874232-90874233
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90873270..90875909-chr8:90879908..90881482,2	K562	blood:
2	chr8:90867270..90880457-chr8:90913050..90918593,18	MCF-7	breast:
3	chr8:90869094..90872518-chr8:90873810..90876034,4	MCF-7	breast:
4	chr8:90868769..90874649-chr8:90891359..90894975,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164823	Chromatin interaction
ENSG00000207359	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	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs366867	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs367640	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs370282	0.86[JPT][hapmap]
rs377897	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs379015	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs380425	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs381456	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386587	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386857	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs388866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390536	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398959	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs400571	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs40250	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs40459	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs40547	0.86[JPT][hapmap]
rs40638	0.86[JPT][hapmap]
rs410577	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs410663	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs418634	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs419890	0.93[ASN][1000 genomes]
rs42186	0.93[ASN][1000 genomes]
rs42346	0.86[JPT][hapmap]
rs42481	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs425140	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs427854	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs432457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs447989	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.99[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90871000-90874400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:90872000-90874600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:90873000-90874400	Weak transcription	Adipose Nuclei	Adipose
4	chr8:90873800-90874400	Enhancers	HSMMtube	muscle
5	chr8:90873800-90874800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:90873800-90874800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:90873800-90875000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:90874000-90874600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:90874000-90874600	Enhancers	Brain Germinal Matrix	brain
10	chr8:90874000-90874600	Enhancers	Psoas Muscle	Psoas
11	chr8:90874000-90874600	Enhancers	A549	lung
12	chr8:90874000-90874800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:90874000-90874800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:90874200-90874600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:90874200-90874600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:90874200-90874600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:90874200-90874600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:90874200-90874600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:90874200-90874600	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:90874200-90874600	Enhancers	Brain Substantia Nigra	brain
21	chr8:90874200-90874800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr8:90874200-90874800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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