Variant report

Variant	rs2697668
Chromosome Location	chr8:90895010-90895011
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90860192..90861462-chr8:90894641..90895365,5	MCF-7	breast:
2	chr8:90860444..90862985-chr8:90893846..90895436,2	MCF-7	breast:
3	chr8:90888047..90890965-chr8:90892432..90896610,8	MCF-7	breast:
4	chr8:90893552..90896595-chr8:90897347..90900085,4	MCF-7	breast:
5	chr8:90862840..90866421-chr8:90892520..90896963,6	MCF-7	breast:
6	chr8:90894394..90895608-chr8:90913632..90914708,4	MCF-7	breast:
7	chr8:90895001..90897227-chr8:90995422..90997979,2	MCF-7	breast:
8	chr8:90894970..90897311-chr8:90974540..90976515,2	K562	blood:
9	chr8:90894724..90897024-chr8:90939368..90941609,2	K562	blood:
10	chr8:90860020..90861677-chr8:90894087..90895653,8	MCF-7	breast:
11	chr8:90894021..90896724-chr8:91012217..91014562,2	MCF-7	breast:
12	chr8:90768984..90771011-chr8:90894982..90896927,2	MCF-7	breast:
13	chr8:90877915..90882075-chr8:90892079..90895246,4	MCF-7	breast:
14	chr8:90894746..90895363-chr8:90996343..90997041,2	MCF-7	breast:
15	chr8:90882092..90883688-chr8:90893463..90895234,2	MCF-7	breast:
16	chr8:90892774..90903972-chr8:90910662..90917000,28	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000207359	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000104325	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10098655	0.88[MEX][hapmap]
rs1805796	0.87[YRI][hapmap]
rs1882803	0.87[MEX][hapmap]
rs2178857	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2223009	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2250670	0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.89[ASN][1000 genomes]
rs2697674	0.82[LWK][hapmap];0.80[MEX][hapmap];1.00[YRI][hapmap]
rs2697675	0.83[MEX][hapmap]
rs2734823	1.00[YRI][hapmap]
rs2735374	0.87[AFR][1000 genomes]
rs2735376	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2735884	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2735888	0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs989384	0.83[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2697668	NBN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90890200-90904600	Weak transcription	Pancreas	Pancrea
2	chr8:90890800-90899000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:90893000-90905200	Weak transcription	Primary B cells from cord blood	blood
4	chr8:90893600-90895600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:90893600-90895600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:90893600-90895600	Enhancers	NH-A	brain
7	chr8:90893600-90895800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:90893600-90897200	Enhancers	Hela-S3	cervix
9	chr8:90893800-90895400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:90893800-90895600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:90893800-90895600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:90893800-90895600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:90894000-90895200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:90894000-90895600	Enhancers	Osteobl	bone
15	chr8:90894000-90896000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:90894000-90897200	Weak transcription	Gastric	stomach
17	chr8:90894000-90900400	Weak transcription	HSMMtube	muscle
18	chr8:90894000-90905800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:90894400-90913400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:90894600-90895200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr8:90894600-90895200	Enhancers	HMEC	breast
22	chr8:90894600-90895400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr8:90894600-90895600	Flanking Active TSS	A549	lung
24	chr8:90894600-90895600	Flanking Active TSS	HUVEC	blood vessel
25	chr8:90894800-90895200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:90894800-90895200	Enhancers	Brain Angular Gyrus	brain
27	chr8:90894800-90895200	Enhancers	Stomach Mucosa	stomach
28	chr8:90894800-90895400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr8:90894800-90895400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:90894800-90895400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:90894800-90895400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:90894800-90895600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:90894800-90895600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:90894800-90895600	Enhancers	Brain Hippocampus Middle	brain
35	chr8:90894800-90895600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:90894800-90895800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:90894800-90895800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:90894800-90895800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:90895000-90895400	Flanking Active TSS	Liver	Liver
40	chr8:90895000-90895400	Enhancers	Brain Substantia Nigra	brain
41	chr8:90895000-90895400	Enhancers	NHEK	skin
42	chr8:90895000-90895600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:90895000-90895800	Enhancers	Cortex derived primary cultured neurospheres	brain

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