Variant report

Variant	rs1805809
Chromosome Location	chr8:91023118-91023119
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91020454..91023421-chr8:91024183..91026598,3	K562	blood:
2	chr8:91015312..91017008-chr8:91022823..91025081,2	K562	blood:
3	chr8:91016481..91019330-chr8:91020288..91024587,4	MCF-7	breast:
4	chr8:91022020..91023548-chr8:91252293..91254281,2	K562	blood:
5	chr8:91021301..91024029-chr8:91024257..91028191,5	MCF-7	breast:
6	chr8:91022661..91026368-chr8:91026932..91029627,3	K562	blood:
7	chr8:91020917..91023569-chr8:91030521..91032050,2	K562	blood:

Variant related genes	Relation type
ENSG00000104325	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10095826	0.84[CEU][hapmap]
rs10100369	0.80[CEU][hapmap]
rs10109454	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1011682	0.84[EUR][1000 genomes]
rs1011683	0.85[EUR][1000 genomes]
rs10956427	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1476590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16786	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1805788	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1805789	0.80[CHB][hapmap]
rs1805793	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805796	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1805802	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805806	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805807	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1805808	0.85[EUR][1000 genomes]
rs1805833	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805841	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805869	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805871	0.84[CEU][hapmap];0.80[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1805889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1881469	0.82[JPT][hapmap]
rs2072656	0.85[EUR][1000 genomes]
rs2074593	0.84[EUR][1000 genomes]
rs2097825	0.80[CEU][hapmap];0.83[EUR][1000 genomes]
rs2107466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2189618	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2189619	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2246157	0.82[JPT][hapmap]
rs2293775	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2697674	0.81[JPT][hapmap]
rs2697675	0.81[JPT][hapmap]
rs2734823	0.82[JPT][hapmap]
rs3087750	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34394839	0.84[EUR][1000 genomes]
rs3758146	0.84[CEU][hapmap]
rs4961165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4961166	0.82[EUR][1000 genomes]
rs4961167	0.83[EUR][1000 genomes]
rs4961168	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4961169	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6470522	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs6993054	0.85[EUR][1000 genomes]
rs7010210	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7011299	0.84[EUR][1000 genomes]
rs709816	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7822272	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs7822950	0.84[EUR][1000 genomes]
rs867185	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs926092	0.82[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	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1805809	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:91014800-91031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:91014800-91031200	Weak transcription	Fetal Brain Male	brain
5	chr8:91014800-91031200	Weak transcription	Placenta	Placenta
6	chr8:91014800-91031400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:91014800-91031400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:91014800-91031400	Weak transcription	Esophagus	oesophagus
9	chr8:91014800-91033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:91014800-91034200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon
12	chr8:91015000-91024800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:91015000-91031200	Weak transcription	Brain Angular Gyrus	brain
14	chr8:91015000-91031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:91015200-91025000	Weak transcription	NHLF	lung
16	chr8:91015400-91024800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:91015400-91031200	Weak transcription	HSMMtube	muscle
18	chr8:91015400-91031400	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:91015400-91031400	Weak transcription	Brain Substantia Nigra	brain
20	chr8:91015400-91031400	Weak transcription	Fetal Kidney	kidney
21	chr8:91015600-91031200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
23	chr8:91015800-91029000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:91015800-91031200	Weak transcription	Brain Anterior Caudate	brain
25	chr8:91015800-91031200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:91015800-91031200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:91015800-91033200	Weak transcription	Stomach Mucosa	stomach
28	chr8:91016000-91024800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:91016200-91024800	Weak transcription	NHDF-Ad	bronchial
30	chr8:91017000-91023600	Enhancers	Liver	Liver
31	chr8:91017400-91028600	Enhancers	Fetal Heart	heart
32	chr8:91017400-91031000	Weak transcription	HSMM	muscle
33	chr8:91018200-91031400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:91018400-91024800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:91018400-91031000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:91018400-91031200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:91018400-91031200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:91018400-91031400	Weak transcription	Fetal Stomach	stomach
39	chr8:91018400-91031400	Weak transcription	Thymus	Thymus
40	chr8:91018400-91034400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:91018600-91024800	Weak transcription	Fetal Lung	lung
42	chr8:91018600-91024800	Weak transcription	Dnd41	blood
43	chr8:91018600-91031200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:91018600-91031200	Weak transcription	Osteobl	bone
45	chr8:91018600-91065400	Weak transcription	HMEC	breast
46	chr8:91018800-91027800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:91018800-91028000	Weak transcription	Fetal Thymus	thymus
48	chr8:91018800-91031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:91019000-91025000	Weak transcription	Lung	lung
50	chr8:91019000-91031400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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