Variant report

Variant	rs17450758
Chromosome Location	chr8:118892823-118892824
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	chr8:118890541..118892939-chr8:119125383..119127926,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10106675	0.82[CHB][hapmap]
rs11774623	0.82[CHB][hapmap]
rs11776292	0.83[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11777874	0.82[CHB][hapmap]
rs11784409	0.82[CHB][hapmap]
rs11784466	0.82[CHB][hapmap]
rs11785986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986974	0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12676684	0.81[CHB][hapmap]
rs12678309	0.89[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12682332	0.82[CHB][hapmap]
rs12682457	0.81[CHB][hapmap]
rs12682480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17430540	0.82[CHB][hapmap]
rs17450723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17450835	0.86[CHB][hapmap]
rs17450863	0.82[CHB][hapmap]
rs17450876	0.82[CHB][hapmap]
rs17452966	0.82[CHB][hapmap]
rs17475190	0.86[CHB][hapmap]
rs17503934	0.90[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28357271	0.82[CHB][hapmap]
rs28357275	0.82[CHB][hapmap]
rs4602926	0.82[CHB][hapmap]
rs57075571	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6985552	0.82[CHB][hapmap]
rs6999044	0.82[CHB][hapmap]
rs7007735	0.86[CHB][hapmap]
rs7012890	0.82[CHB][hapmap]
rs73320194	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7820452	0.82[CHB][hapmap]
rs7822297	0.82[CHB][hapmap]
rs7830840	0.89[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9656923	0.82[CHB][hapmap]
rs9656925	0.82[CHB][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:61 , 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	chr8:118875400-118893600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:118876200-118894800	Weak transcription	Fetal Lung	lung
5	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
6	chr8:118876400-118894400	Weak transcription	Fetal Intestine Small	intestine
7	chr8:118877800-118896200	Weak transcription	HepG2	liver
8	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:118881400-118893800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:118881400-118904600	Weak transcription	Lung	lung
11	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
12	chr8:118881800-118895400	Weak transcription	Liver	Liver
13	chr8:118881800-118895800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:118881800-118896400	Weak transcription	Fetal Heart	heart
15	chr8:118884000-118893200	Weak transcription	NHEK	skin
16	chr8:118884200-118893200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:118884400-118893200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:118884400-118895400	Weak transcription	Fetal Intestine Large	intestine
19	chr8:118885600-118895000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:118888000-118893400	Enhancers	NHDF-Ad	bronchial
21	chr8:118888200-118894400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:118888600-118893600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:118889000-118893600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:118889200-118893400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:118889400-118893800	Weak transcription	Adipose Nuclei	Adipose
27	chr8:118889600-118893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr8:118889800-118893200	Weak transcription	HSMM	muscle
29	chr8:118889800-118895800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:118889800-118904200	Weak transcription	Left Ventricle	heart
31	chr8:118890000-118893200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:118890000-118893200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:118890000-118893400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:118890000-118893600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:118890000-118895400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:118890200-118893200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:118890200-118893400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr8:118890200-118895400	Weak transcription	A549	lung
40	chr8:118890400-118893600	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:118891200-118893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:118891200-118894000	Weak transcription	Pancreas	Pancrea
43	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
44	chr8:118891400-118893000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:118891400-118895000	Enhancers	Osteobl	bone
46	chr8:118891400-118895600	Weak transcription	Aorta	Aorta
47	chr8:118891400-118895800	Enhancers	NHLF	lung
48	chr8:118891600-118893200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:118891600-118893600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr8:118892000-118893200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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