Variant report

Variant	rs17064047
Chromosome Location	chr9:71992403-71992404
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	chr9:71991902..71994131-chr9:72003113..72004905,2	MCF-7	breast:
2	chr9:71991329..71993145-chr9:71996881..71999330,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10113929	1.00[MEX][hapmap]
rs10113949	1.00[MEX][hapmap]
rs10453246	1.00[AMR][1000 genomes]
rs4615643	1.00[AMR][1000 genomes]
rs56955534	1.00[AMR][1000 genomes]
rs58518144	1.00[AMR][1000 genomes]
rs6559503	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7020046	1.00[AMR][1000 genomes]
rs7049191	1.00[AMR][1000 genomes]
rs73459109	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73459125	1.00[AMR][1000 genomes]
rs73459137	1.00[AMR][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	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv831610	chr9:71846941-72016835	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv893428	chr9:71926658-72027641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv893429	chr9:71961923-72047337	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv893430	chr9:71968730-72036369	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71962200-71994200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:71979000-72001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:71983400-72001800	Weak transcription	Brain Anterior Caudate	brain
4	chr9:71985400-71994200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr9:71985400-72006600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr9:71986600-72002600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:71986800-71994200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr9:71988800-71998600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:71989000-72002800	Weak transcription	Brain Substantia Nigra	brain
10	chr9:71989600-71997000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:71989800-71994000	Genic enhancers	Fetal Heart	heart
12	chr9:71990600-71992600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:71990600-72000200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:71991000-71992600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr9:71991000-71992600	Enhancers	NHDF-Ad	bronchial
16	chr9:71991000-71992800	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:71991000-71992800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:71991200-71992600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:71991200-71994200	Enhancers	HSMM	muscle
20	chr9:71991400-71992600	Enhancers	Colon Smooth Muscle	Colon
21	chr9:71991400-71992600	Enhancers	Rectal Smooth Muscle	rectum
22	chr9:71991600-71992600	Enhancers	Esophagus	oesophagus
23	chr9:71991600-71992600	Enhancers	Fetal Muscle Trunk	muscle
24	chr9:71991600-71992600	Enhancers	Left Ventricle	heart
25	chr9:71991600-71992600	Enhancers	Lung	lung
26	chr9:71991600-71992800	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr9:71991800-71992600	Enhancers	Right Atrium	heart
28	chr9:71991800-71992800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:71991800-71992800	Enhancers	Right Ventricle	heart
30	chr9:71991800-71992800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr9:71991800-71993600	Enhancers	Psoas Muscle	Psoas
32	chr9:71991800-71994200	Weak transcription	Stomach Mucosa	stomach
33	chr9:71991800-72012200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr9:71992000-71992600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr9:71992000-71992600	Enhancers	Osteobl	bone
36	chr9:71992000-71992800	Strong transcription	Fetal Stomach	stomach
37	chr9:71992000-71992800	Genic enhancers	Stomach Smooth Muscle	stomach
38	chr9:71992000-71993600	Weak transcription	HUVEC	blood vessel
39	chr9:71992000-71993800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:71992000-71993800	Weak transcription	Hela-S3	cervix
41	chr9:71992000-71994000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:71992000-71994200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:71992000-71994200	Weak transcription	Aorta	Aorta
44	chr9:71992000-71994400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr9:71992000-71994400	Weak transcription	Pancreas	Pancrea
46	chr9:71992000-71994400	Weak transcription	NHLF	lung
47	chr9:71992000-71995800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr9:71992000-72001800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:71992000-72009800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr9:71992200-71992600	Strong transcription	H1 Cell Line	embryonic stem cell

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