Variant report

Variant	rs13267449
Chromosome Location	chr8:119017473-119017474
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119010926..119015878-chr8:119016577..119020260,4	MCF-7	breast:
2	chr8:119015841..119017947-chr8:119030340..119032884,2	MCF-7	breast:
3	chr8:119016095..119018020-chr8:119023255..119025227,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11562735	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11562770	0.93[CEU][hapmap];0.95[GIH][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775987	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13255959	0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13260360	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17431131	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4876779	0.85[EUR][1000 genomes]
rs4876785	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6986291	0.96[CEU][hapmap];0.98[GIH][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7006696	0.93[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7830231	0.93[CEU][hapmap];0.88[GIH][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs9297573	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643119	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650072	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13267449	NOBOX	trans	multi-tissue	Pritchard
rs13267449	DSCC1	cis	cerebellum	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118994000-119031000	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119001200-119023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:119001600-119021200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:119005000-119021200	Weak transcription	Gastric	stomach
5	chr8:119013000-119020200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:119013000-119021400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:119013000-119021800	Weak transcription	Lung	lung
8	chr8:119013200-119017800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:119013200-119021400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:119013200-119022800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:119013200-119030000	Weak transcription	Colonic Mucosa	Colon
12	chr8:119013400-119021600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:119016200-119018000	Enhancers	Fetal Lung	lung
14	chr8:119016200-119018400	Enhancers	HMEC	breast
15	chr8:119016200-119018600	Enhancers	Adipose Nuclei	Adipose
16	chr8:119016200-119019000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:119016200-119019200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:119016200-119019600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:119016200-119019800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:119016200-119026000	Enhancers	Liver	Liver
21	chr8:119016400-119017600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:119016400-119017600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:119016400-119017600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:119016400-119017600	Enhancers	Fetal Kidney	kidney
25	chr8:119016400-119017600	Enhancers	Ovary	ovary
26	chr8:119016400-119017600	Flanking Active TSS	NHEK	skin
27	chr8:119016400-119017800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:119016400-119017800	Flanking Active TSS	Hela-S3	cervix
29	chr8:119016400-119018000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr8:119016400-119018000	Enhancers	Fetal Muscle Leg	muscle
31	chr8:119016400-119018000	Enhancers	Left Ventricle	heart
32	chr8:119016400-119018000	Enhancers	Right Atrium	heart
33	chr8:119016400-119018000	Enhancers	Spleen	Spleen
34	chr8:119016400-119018000	Enhancers	HSMM	muscle
35	chr8:119016400-119018000	Flanking Active TSS	HUVEC	blood vessel
36	chr8:119016400-119018200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:119016400-119018200	Enhancers	Fetal Heart	heart
38	chr8:119016400-119018600	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr8:119016400-119018800	Enhancers	Duodenum Mucosa	Duodenum
40	chr8:119016400-119019000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:119016400-119019200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:119016600-119017600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr8:119016600-119017600	Enhancers	Placenta	Placenta
44	chr8:119016600-119017600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr8:119016600-119017800	Flanking Active TSS	NH-A	brain
46	chr8:119016600-119018400	Enhancers	Aorta	Aorta
47	chr8:119016600-119018600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr8:119016600-119018600	Enhancers	Small Intestine	intestine
49	chr8:119016600-119019000	Enhancers	HepG2	liver
50	chr8:119016600-119021200	Weak transcription	Brain Inferior Temporal Lobe	brain

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