Variant report

Variant	rs12675822
Chromosome Location	chr8:90867483-90867484
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	chr8:90867270..90880457-chr8:90913050..90918593,18	MCF-7	breast:
2	chr8:90864006..90868898-chr8:90869518..90873896,4	K562	blood:
3	chr8:90864006..90868898-chr8:90869518..90873802,5	K562	blood:
4	chr8:90866711..90872793-chr8:90887380..90891820,9	MCF-7	breast:
5	chr8:90858582..90866507-chr8:90866541..90873248,10	MCF-7	breast:
6	chr8:90855177..90868995-chr8:90994125..91001070,26	MCF-7	breast:
7	chr8:90854658..90857066-chr8:90864684..90867899,3	MCF-7	breast:
8	chr8:90866902..90871267-chr8:90912071..90916231,7	MCF-7	breast:

No data

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

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12155807	0.89[AFR][1000 genomes]
rs12679902	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.89[MKK][hapmap];1.00[ASN][1000 genomes]
rs12680009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13260987	0.96[YRI][hapmap];0.96[AFR][1000 genomes]
rs13277948	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278954	0.86[AFR][1000 genomes]
rs16901016	0.88[YRI][hapmap]
rs2189025	0.99[ASN][1000 genomes]
rs2338883	0.85[CEU][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs28766093	0.88[AFR][1000 genomes]
rs2879287	0.85[CEU][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34642426	0.88[AFR][1000 genomes]
rs34699769	0.86[AFR][1000 genomes]
rs35183880	0.87[ASW][hapmap];0.90[MKK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs367640	0.84[ASN][1000 genomes]
rs376962	0.84[ASN][1000 genomes]
rs377897	0.84[ASN][1000 genomes]
rs379015	0.84[ASN][1000 genomes]
rs380425	0.84[ASN][1000 genomes]
rs381456	0.84[ASN][1000 genomes]
rs386587	0.84[ASN][1000 genomes]
rs388866	0.80[CHD][hapmap];0.84[ASN][1000 genomes]
rs390536	0.84[ASN][1000 genomes]
rs410663	0.84[ASN][1000 genomes]
rs418634	0.84[ASN][1000 genomes]
rs425140	0.84[ASN][1000 genomes]
rs427854	0.84[ASN][1000 genomes]
rs432457	0.84[ASN][1000 genomes]
rs447989	0.84[ASN][1000 genomes]
rs6984540	0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs7013987	0.86[AFR][1000 genomes]
rs7015630	0.88[ASW][hapmap];0.85[CEU][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.90[TSI][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.87[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12675822	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90861000-90868400	Weak transcription	Ovary	ovary
2	chr8:90861000-90870200	Weak transcription	HMEC	breast
3	chr8:90861000-90871000	Weak transcription	Right Atrium	heart
4	chr8:90861200-90869600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:90861200-90869800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:90861400-90869000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:90861600-90868200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:90861600-90868200	Weak transcription	HSMM	muscle
9	chr8:90861800-90869200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:90861800-90869200	Weak transcription	Brain Anterior Caudate	brain
11	chr8:90861800-90870200	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:90864800-90870400	Weak transcription	Aorta	Aorta
13	chr8:90866600-90873400	Enhancers	HSMMtube	muscle
14	chr8:90867000-90870400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:90867400-90867800	Enhancers	Fetal Muscle Trunk	muscle
16	chr8:90867400-90867800	Weak transcription	A549	lung
17	chr8:90867400-90868000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:90867400-90868000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:90867400-90869000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:90867400-90869200	Enhancers	Primary B cells from cord blood	blood
21	chr8:90867400-90869200	Enhancers	Primary hematopoietic stem cells	blood
22	chr8:90867400-90869400	Enhancers	Primary B cells from peripheral blood	blood

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