Variant report

Variant	nsv470397
Chromosome Location	chr7:146389259-146420571
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	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:
2	chr7:146392626..146394325-chr7:146397698..146400118,2	K562	blood:

Extended variants
information (count: 759 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:759 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2642483	chr7:146389259-146389260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140390620	chr7:146389325-146389326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550498224	chr7:146389334-146389335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567493010	chr7:146389434-146389435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547084450	chr7:146389456-146389457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556648218	chr7:146389461-146389462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181890228	chr7:146389490-146389491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536067439	chr7:146389493-146389494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77358816	chr7:146389504-146389505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186464773	chr7:146389506-146389507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538996836	chr7:146389508-146389509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559025165	chr7:146389605-146389606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575784997	chr7:146389664-146389665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544766234	chr7:146389683-146389684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561316191	chr7:146389685-146389686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188381250	chr7:146389749-146389750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181208913	chr7:146389797-146389798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184964827	chr7:146389819-146389820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371295719	chr7:146389868-146389869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189771897	chr7:146389921-146389922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183993606	chr7:146389950-146389951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539656535	chr7:146389956-146389957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564567684	chr7:146390012-146390013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187323469	chr7:146390015-146390016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375528884	chr7:146390087-146390088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370599556	chr7:146390096-146390097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550609394	chr7:146390119-146390120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2642482	chr7:146390135-146390136	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529869313	chr7:146390167-146390168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546491294	chr7:146390196-146390197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150358084	chr7:146390208-146390209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80114187	chr7:146390212-146390213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191830311	chr7:146390216-146390217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183605636	chr7:146390292-146390293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547846455	chr7:146390301-146390302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573126203	chr7:146390372-146390373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113435972	chr7:146390437-146390438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574857818	chr7:146390457-146390458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540786375	chr7:146390461-146390462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554106092	chr7:146390479-146390480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577100897	chr7:146390481-146390482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546127265	chr7:146390509-146390510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201781081	chr7:146390527-146390528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562850212	chr7:146390594-146390595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138020919	chr7:146390643-146390644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187548257	chr7:146390650-146390651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543885096	chr7:146390734-146390735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561002084	chr7:146390788-146390789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529783136	chr7:146390805-146390806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191630828	chr7:146390873-146390874	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146387000-146390800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:146390800-146391400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:146395800-146396000	Enhancers	Fetal Lung	lung
4	chr7:146396200-146398000	Weak transcription	Fetal Lung	lung
5	chr7:146397200-146398000	Enhancers	Stomach Mucosa	stomach
6	chr7:146397200-146398600	Enhancers	Ovary	ovary
7	chr7:146397800-146398400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:146398000-146399800	Enhancers	Fetal Lung	lung
9	chr7:146398200-146398600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:146398400-146399000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr7:146398800-146399200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:146398800-146399200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:146406200-146406400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:146406200-146406400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:146406400-146406800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:146406400-146406800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:146406400-146407000	Enhancers	Fetal Lung	lung
18	chr7:146406400-146407400	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:146406400-146407400	Enhancers	Ovary	ovary
20	chr7:146406400-146407600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr7:146406400-146407800	Enhancers	Stomach Mucosa	stomach
22	chr7:146406600-146407400	Enhancers	Pancreas	Pancrea
23	chr7:146406800-146407400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:146406800-146407400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:146407400-146407800	Weak transcription	Ovary	ovary
26	chr7:146407400-146407800	Weak transcription	Pancreas	Pancrea
27	chr7:146407800-146408200	Enhancers	Ovary	ovary
28	chr7:146407800-146408200	Enhancers	Pancreas	Pancrea
29	chr7:146410800-146417400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:146417000-146417800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:146417000-146417800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:146417400-146417600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:146417600-146417800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:146417800-146422600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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