Variant report

Variant	nsv606361
Chromosome Location	chr7:19475483-19524863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:
2	chr7:19502491..19504536-chr7:19508124..19510768,2	K562	blood:
3	chr7:19161356..19162289-chr7:19481424..19482541,6	MCF-7	breast:

Extended variants
information (count: 673 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10230395	chr7:19475483-19475484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369420135	chr7:19475515-19475516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559724914	chr7:19475611-19475612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528759253	chr7:19475645-19475646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574634499	chr7:19475685-19475686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528488341	chr7:19475691-19475692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535535596	chr7:19475717-19475718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182251267	chr7:19475771-19475772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144169862	chr7:19475838-19475839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544317847	chr7:19475845-19475846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372842704	chr7:19475877-19475878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573044717	chr7:19475898-19475899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552023314	chr7:19475915-19475916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540083072	chr7:19475916-19475917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571895654	chr7:19475918-19475919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561536625	chr7:19475930-19475931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185273636	chr7:19475934-19475935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115797049	chr7:19475955-19475956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201804355	chr7:19475965-19475966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114548489	chr7:19475974-19475975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530824279	chr7:19475997-19475998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552505834	chr7:19476085-19476086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10231155	chr7:19476107-19476108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs56299873	chr7:19476112-19476113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs547258970	chr7:19476133-19476134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151149829	chr7:19476147-19476148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35893467	chr7:19476165-19476166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556802459	chr7:19476179-19476180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78582275	chr7:19476250-19476251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539063758	chr7:19476342-19476343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557731301	chr7:19476380-19476381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562529537	chr7:19476427-19476428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540121117	chr7:19476429-19476430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189084814	chr7:19476450-19476451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13244847	chr7:19476500-19476501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs543966681	chr7:19476508-19476509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563639350	chr7:19476520-19476521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530990143	chr7:19476540-19476541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552338792	chr7:19476599-19476600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564499892	chr7:19476637-19476638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528828803	chr7:19476660-19476661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572328567	chr7:19476664-19476665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34219318	chr7:19476685-19476686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139196695	chr7:19476688-19476689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568743736	chr7:19476731-19476732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35204290	chr7:19476740-19476741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149967392	chr7:19476749-19476750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557616228	chr7:19476787-19476788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374095639	chr7:19476788-19476789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145099963	chr7:19476827-19476828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19473600-19478800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:19477000-19477600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:19477200-19477400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:19477400-19478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:19478800-19479200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:19478800-19479800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:19478800-19480000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:19478800-19480200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:19479000-19479400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:19479000-19479400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:19479000-19479400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:19479000-19480800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:19479000-19481000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:19479200-19479600	Enhancers	Primary hematopoietic stem cells	blood
15	chr7:19479200-19480400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:19479400-19481400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:19479600-19480600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:19479600-19482400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:19480400-19481600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:19480600-19480800	Enhancers	Primary hematopoietic stem cells	blood
21	chr7:19481400-19482000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:19481600-19481800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:19481600-19482000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:19481600-19482200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:19482000-19483600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:19483800-19484000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:19495200-19495600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:19495400-19495800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:19504000-19504800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:19504400-19507200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:19504800-19505000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:19505000-19505400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:19505400-19506000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:19506000-19506800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:19509800-19510200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:19511400-19511800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr7:19513000-19513400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:19519200-19520000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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