Variant report

Variant	rs17450772
Chromosome Location	chr8:118895712-118895713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118895392..118899100-chr8:119122968..119125162,4	MCF-7	breast:
2	chr8:118894308..118897199-chr8:119123485..119125285,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10107685	0.90[CEU][hapmap]
rs11993275	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12541851	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12542013	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12543508	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12544064	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs12548703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12549000	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12549700	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13263609	0.81[CEU][hapmap]
rs17430533	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17450765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17450793	0.90[CEU][hapmap];0.91[EUR][1000 genomes]
rs3923167	0.89[CEU][hapmap]
rs4256623	0.90[CEU][hapmap]
rs4339678	0.81[CEU][hapmap]
rs4345585	0.90[CEU][hapmap]
rs4515578	0.90[CEU][hapmap]
rs6981280	0.89[CEU][hapmap]
rs6991164	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72673947	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823796	0.82[CHB][hapmap]
rs7842361	0.90[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118873600-118896200	Weak transcription	Fetal Stomach	stomach
2	chr8:118874800-118895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
4	chr8:118877800-118896200	Weak transcription	HepG2	liver
5	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr8:118881400-118904600	Weak transcription	Lung	lung
7	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
8	chr8:118881800-118895800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr8:118881800-118896400	Weak transcription	Fetal Heart	heart
10	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:118889800-118895800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:118889800-118904200	Weak transcription	Left Ventricle	heart
13	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
15	chr8:118891400-118895800	Enhancers	NHLF	lung
16	chr8:118892600-118898600	Weak transcription	Small Intestine	intestine
17	chr8:118893200-118897200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:118894000-118896000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:118894000-118896000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:118894000-118897000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:118894200-118895800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:118894200-118895800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:118894200-118895800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:118894200-118896000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:118894200-118896400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:118894200-118896800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:118894200-118896800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:118894200-118898000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr8:118894200-118901200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:118894200-118901200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:118894200-118904400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:118894400-118896800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:118894600-118895800	Weak transcription	Pancreas	Pancrea
34	chr8:118894600-118895800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:118894600-118905000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:118894800-118895800	Weak transcription	HSMM	muscle
38	chr8:118894800-118895800	Weak transcription	NHEK	skin
39	chr8:118894800-118896400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:118894800-118896400	Weak transcription	Stomach Mucosa	stomach
41	chr8:118894800-118898600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:118894800-118900600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:118894800-118904200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:118894800-118904400	Weak transcription	NH-A	brain
45	chr8:118894800-118905200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:118894800-118905600	Weak transcription	HMEC	breast
47	chr8:118895000-118895800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:118895000-118895800	Weak transcription	NHDF-Ad	bronchial
49	chr8:118895400-118895800	Enhancers	A549	lung
50	chr8:118895400-118896800	Enhancers	Fetal Lung	lung

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