Variant report

Variant	nsv519113
Chromosome Location	chr7:19706972-19716491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:19706293..19708474-chr7:19708622..19711494,3	K562	blood:
2	chr7:19706293..19708474-chr7:19708622..19711494,3	K562	blood:

Extended variants
information (count: 404 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6947737	chr7:19706972-19706973	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142436956	chr7:19706997-19706998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73081063	chr7:19707023-19707024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113261918	chr7:19707088-19707089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547730365	chr7:19707134-19707135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139055349	chr7:19707189-19707190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530117816	chr7:19707217-19707218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10269650	chr7:19707227-19707228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570156305	chr7:19707272-19707273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117648663	chr7:19707278-19707279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150491145	chr7:19707288-19707289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570690516	chr7:19707289-19707290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534904286	chr7:19707310-19707311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138264682	chr7:19707320-19707321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187250875	chr7:19707321-19707322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535453327	chr7:19707342-19707343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62454500	chr7:19707365-19707366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144338538	chr7:19707400-19707401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545608404	chr7:19707402-19707403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192128284	chr7:19707424-19707425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577064484	chr7:19707451-19707452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137913898	chr7:19707458-19707459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559624182	chr7:19707477-19707478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530015989	chr7:19707488-19707489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570754682	chr7:19707525-19707526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548582297	chr7:19707586-19707587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563569943	chr7:19707588-19707589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370391127	chr7:19707625-19707626	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552742072	chr7:19707759-19707760	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79407966	chr7:19707761-19707762	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200034202	chr7:19707764-19707765	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147379035	chr7:19707765-19707766	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188162504	chr7:19707781-19707782	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536643072	chr7:19707787-19707788	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556885070	chr7:19707839-19707840	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs142471462	chr7:19707856-19707857	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs568377627	chr7:19707857-19707858	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192666582	chr7:19707859-19707860	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs535417952	chr7:19707862-19707863	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs377349655	chr7:19707863-19707864	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs184466442	chr7:19707883-19707884	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs145931032	chr7:19707899-19707900	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs386710973	chr7:19707916-19707917	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12536835	chr7:19707917-19707918	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576982381	chr7:19707943-19707944	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs6952739	chr7:19707944-19707945	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs189547645	chr7:19707945-19707946	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs575053644	chr7:19707954-19707955	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs368344195	chr7:19707995-19707996	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs534089766	chr7:19707999-19708000	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19704600-19707600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:19705000-19707600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:19705200-19707600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:19705200-19714000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:19706800-19707000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:19707600-19707800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:19707600-19708000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:19707600-19708200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:19707800-19708400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:19708000-19708600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:19708400-19708600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:19708600-19713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:19710400-19710800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:19710600-19711000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:19713600-19714000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:19713800-19714000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:19713800-19715200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:19714000-19714200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:19714000-19714400	Enhancers	Dnd41	blood
20	chr7:19714000-19714400	Enhancers	Osteobl	bone
21	chr7:19714000-19714800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:19714000-19714800	Enhancers	HSMM	muscle
23	chr7:19714000-19715000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:19714000-19718000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:19714200-19714400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:19714200-19714800	Enhancers	NHEK	skin
27	chr7:19714400-19714600	Enhancers	Primary hematopoietic stem cells	blood
28	chr7:19714400-19714600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr7:19714400-19714800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:19714400-19714800	Flanking Active TSS	Osteobl	bone
31	chr7:19714400-19715800	Weak transcription	Dnd41	blood
32	chr7:19714600-19715800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:19714600-19715800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:19714800-19715000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:19714800-19715000	Enhancers	Osteobl	bone
36	chr7:19715200-19715600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:19715600-19718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:19715800-19718000	Enhancers	Primary hematopoietic stem cells	blood
39	chr7:19715800-19718000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr7:19715800-19718000	Enhancers	Dnd41	blood

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