Variant report

Variant	nsv1059774
Chromosome Location	chr17:20118499-20163560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:20057342..20059768-chr17:20130709..20132708,3	MCF-7	breast:
2	chr17:20114496..20116993-chr17:20117575..20120257,2	MCF-7	breast:
3	chr17:20109966..20112285-chr17:20118187..20119843,2	MCF-7	breast:
4	chr17:20109094..20109672-chr17:20129868..20130670,2	K562	blood:
5	chr17:20144551..20147091-chr17:20150035..20152753,2	MCF-7	breast:
6	chr17:20129853..20130435-chr17:20223856..20224752,2	MCF-7	breast:
7	chr17:20116998..20118634-chr17:20126553..20129376,2	K562	blood:
8	chr17:20089910..20092717-chr17:20126449..20128094,2	MCF-7	breast:
9	chr17:20144165..20146631-chr17:20158234..20160364,2	MCF-7	breast:
10	chr17:20024691..20025538-chr17:20129010..20129692,3	MCF-7	breast:
11	chr17:20113360..20115266-chr17:20118185..20120021,2	K562	blood:
12	chr17:20144551..20147091-chr17:20150035..20152753,2	MCF-7	breast:
13	chr17:20159792..20163252-chr17:20165134..20168652,3	MCF-7	breast:
14	chr17:20058383..20060895-chr17:20129200..20131943,2	K562	blood:
15	chr17:20108704..20111495-chr17:20125977..20128241,2	MCF-7	breast:
16	chr17:20144165..20146631-chr17:20158234..20160364,2	MCF-7	breast:
17	chr17:20025221..20027004-chr17:20127712..20130710,2	MCF-7	breast:
18	chr17:20058977..20061113-chr17:20127273..20129010,3	MCF-7	breast:
19	chr17:20116998..20118634-chr17:20126553..20129376,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000128487	chromatin interactions
ENSG00000154898	chromatin interactions

Extended variants
information (count: 1736 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:1736 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2703815	chr17:20118499-20118500	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533465052	chr17:20118511-20118512	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550489032	chr17:20118526-20118527	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563784926	chr17:20118577-20118578	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563822122	chr17:20118581-20118582	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577208893	chr17:20118582-20118583	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184642205	chr17:20118646-20118647	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559624171	chr17:20118683-20118684	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189224298	chr17:20118685-20118686	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181593138	chr17:20118721-20118722	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562286730	chr17:20118742-20118743	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140562453	chr17:20118756-20118757	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551082747	chr17:20118763-20118764	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565860934	chr17:20118779-20118780	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186581969	chr17:20118787-20118788	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201663214	chr17:20118851-20118852	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2703816	chr17:20118887-20118888	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs79600655	chr17:20118895-20118896	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144211875	chr17:20118909-20118910	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535726719	chr17:20118916-20118917	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191434578	chr17:20118948-20118949	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575395792	chr17:20118960-20118961	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552137200	chr17:20118970-20118971	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537585062	chr17:20119022-20119023	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181277614	chr17:20119023-20119024	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547286376	chr17:20119073-20119074	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147782973	chr17:20119114-20119115	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539255525	chr17:20119132-20119133	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2526482	chr17:20119133-20119134	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs559701631	chr17:20119144-20119145	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186257276	chr17:20119183-20119184	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117656779	chr17:20119184-20119185	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189795062	chr17:20119205-20119206	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562181793	chr17:20119224-20119225	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183507834	chr17:20119282-20119283	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370822354	chr17:20119300-20119301	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551146121	chr17:20119398-20119399	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564590759	chr17:20119430-20119431	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs141124136	chr17:20119431-20119432	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs547052826	chr17:20119432-20119433	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs566836973	chr17:20119461-20119462	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs186501159	chr17:20119485-20119486	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs374170594	chr17:20119490-20119491	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs549253843	chr17:20119556-20119557	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs569019708	chr17:20119564-20119565	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs371855748	chr17:20119575-20119576	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs558083601	chr17:20119576-20119577	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557504358	chr17:20119579-20119580	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs55891925	chr17:20119582-20119583	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533618817	chr17:20119588-20119589	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:150)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:1353 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20104000-20119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:20104200-20120800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:20105000-20119000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr17:20106600-20119600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:20106800-20130200	Weak transcription	Fetal Stomach	stomach
6	chr17:20106800-20131400	Weak transcription	Fetal Intestine Large	intestine
7	chr17:20107000-20121200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr17:20107400-20119800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr17:20107600-20131600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:20108000-20120200	Weak transcription	GM12878-XiMat	blood
11	chr17:20108000-20130200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:20108000-20130200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr17:20108400-20119200	Weak transcription	Brain Germinal Matrix	brain
14	chr17:20108400-20131400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr17:20109600-20119400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:20109600-20135200	Weak transcription	Gastric	stomach
17	chr17:20110400-20119200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:20110600-20118800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr17:20110600-20119000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:20110600-20120600	Weak transcription	Primary T cells from cord blood	blood
21	chr17:20110800-20130400	Weak transcription	HSMMtube	muscle
22	chr17:20111600-20127400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:20111600-20166000	Weak transcription	Right Ventricle	heart
24	chr17:20112000-20119600	Weak transcription	K562	blood
25	chr17:20112000-20130200	Weak transcription	NH-A	brain
26	chr17:20112200-20127000	Weak transcription	NHEK	skin
27	chr17:20115400-20119600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr17:20115400-20119800	Weak transcription	HSMM	muscle
29	chr17:20115400-20135000	Weak transcription	Fetal Intestine Small	intestine
30	chr17:20115600-20119200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr17:20115600-20127200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:20115600-20127200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr17:20115600-20131600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:20115600-20132800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr17:20115800-20119200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr17:20115800-20127000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:20115800-20127200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:20115800-20131400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr17:20116000-20119400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:20116000-20121200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:20116000-20130200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:20116800-20119200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr17:20117000-20130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:20117200-20119600	Weak transcription	Hela-S3	cervix
45	chr17:20117200-20131600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:20117400-20119400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr17:20117800-20123000	Enhancers	Brain Cingulate Gyrus	brain
48	chr17:20118000-20118600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:20118000-20118600	Enhancers	Brain Anterior Caudate	brain
50	chr17:20118000-20118600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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