Variant report

Variant	rs11651280
Chromosome Location	chr17:17449917-17449918
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17449610..17452428-chr17:17454870..17458943,3	MCF-7	breast:
2	chr17:17439547..17441948-chr17:17448069..17450989,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10401038	0.92[EUR][1000 genomes]
rs11654553	0.90[EUR][1000 genomes]
rs11654777	0.90[EUR][1000 genomes]
rs11658311	0.90[EUR][1000 genomes]
rs13342397	0.86[EUR][1000 genomes]
rs16961845	0.86[EUR][1000 genomes]
rs28583584	0.83[EUR][1000 genomes]
rs28636952	0.86[EUR][1000 genomes]
rs28652618	0.83[EUR][1000 genomes]
rs35301480	0.92[EUR][1000 genomes]
rs35838363	0.90[EUR][1000 genomes]
rs56030759	0.81[EUR][1000 genomes]
rs58729290	0.90[EUR][1000 genomes]
rs60831194	0.90[EUR][1000 genomes]
rs7210978	0.92[EUR][1000 genomes]
rs7214152	0.92[EUR][1000 genomes]
rs7214988	0.83[EUR][1000 genomes]
rs7215055	0.82[EUR][1000 genomes]
rs7216223	0.92[EUR][1000 genomes]
rs7222358	0.86[EUR][1000 genomes]
rs7224725	0.83[EUR][1000 genomes]
rs7225421	0.90[EUR][1000 genomes]
rs73978969	0.90[EUR][1000 genomes]
rs8064558	0.90[EUR][1000 genomes]
rs8070432	0.87[EUR][1000 genomes]
rs8074742	0.90[EUR][1000 genomes]
rs8081961	0.90[EUR][1000 genomes]
rs9889584	0.92[EUR][1000 genomes]
rs9889795	0.92[EUR][1000 genomes]
rs9890062	0.81[EUR][1000 genomes]
rs9897362	0.90[EUR][1000 genomes]
rs9903468	0.83[EUR][1000 genomes]
rs9903503	0.90[EUR][1000 genomes]
rs9904004	0.85[EUR][1000 genomes]
rs9905032	0.88[EUR][1000 genomes]
rs9905191	0.90[EUR][1000 genomes]
rs9910747	0.92[EUR][1000 genomes]
rs9944423	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv907746	chr17:17412032-17478917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
10	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
11	nsv907750	chr17:17439458-17460180	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17418200-17478000	Weak transcription	Primary T cells from cord blood	blood
2	chr17:17424600-17460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:17436800-17479200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr17:17438800-17450800	Enhancers	Fetal Muscle Leg	muscle
5	chr17:17439800-17453200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr17:17440000-17453200	Weak transcription	Brain Substantia Nigra	brain
7	chr17:17440200-17454800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:17440400-17450000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr17:17442800-17456400	Weak transcription	Small Intestine	intestine
10	chr17:17443400-17467000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr17:17444000-17454400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:17444000-17454400	Weak transcription	Placenta	Placenta
13	chr17:17444200-17451600	Weak transcription	Lung	lung
14	chr17:17444200-17454400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr17:17444200-17467400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:17444400-17469200	Weak transcription	Fetal Brain Female	brain
17	chr17:17444600-17450600	Weak transcription	Stomach Mucosa	stomach
18	chr17:17444600-17460400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:17444600-17464600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:17444800-17464000	Weak transcription	Esophagus	oesophagus
21	chr17:17445200-17468400	Weak transcription	Thymus	Thymus
22	chr17:17445200-17473200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:17446600-17451600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:17447400-17461000	Weak transcription	Pancreas	Pancrea
25	chr17:17448400-17451400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr17:17448600-17451000	Enhancers	Fetal Muscle Trunk	muscle
27	chr17:17448600-17451200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr17:17448800-17450600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:17448800-17450600	Enhancers	Fetal Stomach	stomach
30	chr17:17449000-17450000	Weak transcription	Liver	Liver
31	chr17:17449000-17454000	Enhancers	Fetal Heart	heart
32	chr17:17449000-17454400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr17:17449000-17459000	Weak transcription	Spleen	Spleen
34	chr17:17449000-17464800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:17449200-17450600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:17449200-17450800	Genic enhancers	Fetal Intestine Small	intestine
37	chr17:17449200-17451600	Enhancers	Right Atrium	heart
38	chr17:17449200-17451600	Enhancers	Right Ventricle	heart
39	chr17:17449200-17453200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr17:17449400-17450000	Enhancers	Brain Hippocampus Middle	brain
41	chr17:17449400-17450400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr17:17449400-17450800	Enhancers	Brain Germinal Matrix	brain
43	chr17:17449600-17450400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:17449600-17450600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr17:17449600-17451800	Enhancers	Fetal Intestine Large	intestine
46	chr17:17449600-17451800	Enhancers	Left Ventricle	heart
47	chr17:17449600-17454200	Weak transcription	Adipose Nuclei	Adipose
48	chr17:17449600-17454200	Weak transcription	Gastric	stomach
49	chr17:17449600-17454600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:17449600-17454600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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