Variant report

Variant	nsv889388
Chromosome Location	chr7:145998111-146082957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:146074528..146076132-chr7:146081076..146083881,2	K562	blood:
2	chr7:146077123..146080368-chr7:146083154..146084711,3	K562	blood:
3	chr7:146077363..146079072-chr7:146098860..146101793,2	K562	blood:
4	chr7:145993936..145995557-chr7:145997586..145999222,2	K562	blood:
5	chr7:145993957..145995557-chr7:145997071..145999086,2	K562	blood:
6	chr7:146074528..146076132-chr7:146081076..146083881,2	K562	blood:

Extended variants
information (count: 550 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185737044	chr7:146011832-146011833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138228376	chr7:146011837-146011838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149555430	chr7:146011855-146011856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73740431	chr7:146011860-146011861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553257600	chr7:146011903-146011904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577510966	chr7:146011987-146011988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544847362	chr7:146011993-146011994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563154320	chr7:146012036-146012037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190149873	chr7:146012060-146012061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542731846	chr7:146012127-146012128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560788293	chr7:146012138-146012139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562518013	chr7:146012143-146012144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144249164	chr7:146012180-146012181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs59186277	chr7:146012185-146012186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566423863	chr7:146012190-146012191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181859244	chr7:146012191-146012192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552056312	chr7:146012192-146012193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570283974	chr7:146012211-146012212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537213209	chr7:146012212-146012213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148793888	chr7:146012248-146012249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567630191	chr7:146012283-146012284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551780989	chr7:146012356-146012357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535062300	chr7:146012379-146012380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552937308	chr7:146012410-146012411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577577314	chr7:146012450-146012451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544908518	chr7:146012453-146012454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556811165	chr7:146012462-146012463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575113181	chr7:146012510-146012511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551424026	chr7:146012526-146012527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114414609	chr7:146012571-146012572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143360214	chr7:146012683-146012684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184387985	chr7:146012684-146012685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540281404	chr7:146012708-146012709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35009523	chr7:146012727-146012728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7795585	chr7:146012780-146012781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532116681	chr7:146012783-146012784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535062684	chr7:146012796-146012797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76571972	chr7:146018400-146018401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555486596	chr7:146018402-146018403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10255068	chr7:146018431-146018432	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10255169	chr7:146018520-146018521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552811963	chr7:146018557-146018558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10255186	chr7:146018571-146018572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs556004497	chr7:146018581-146018582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528630624	chr7:146018584-146018585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376523209	chr7:146018656-146018657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142028383	chr7:146018683-146018684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563447237	chr7:146018729-146018730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115219141	chr7:146018756-146018757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs952732	chr7:146022816-146022817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Cancer	20164919	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Epilepsy	20502679	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146011800-146012600	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr7:146012000-146012800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:146018400-146018800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:146018400-146018800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:146022800-146023400	Enhancers	Fetal Brain Male	brain
6	chr7:146040000-146040200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:146040000-146040200	Enhancers	Fetal Brain Male	brain
8	chr7:146040400-146040800	Enhancers	Fetal Brain Female	brain
9	chr7:146040400-146041600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:146040400-146041600	Weak transcription	Fetal Brain Male	brain
11	chr7:146040800-146041200	Weak transcription	Fetal Brain Female	brain
12	chr7:146041200-146041400	Enhancers	Fetal Brain Female	brain
13	chr7:146041400-146042400	Weak transcription	Fetal Brain Female	brain
14	chr7:146041600-146042000	Enhancers	Ovary	ovary
15	chr7:146041600-146043400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:146041600-146043400	Enhancers	Fetal Brain Male	brain
17	chr7:146042000-146042400	Weak transcription	Ovary	ovary
18	chr7:146042400-146042800	Enhancers	Fetal Brain Female	brain
19	chr7:146042400-146043400	Enhancers	Ovary	ovary
20	chr7:146042600-146043400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:146043400-146044400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:146044400-146044600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:146044400-146045200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:146055800-146056400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:146056000-146056400	Enhancers	Brain Germinal Matrix	brain
26	chr7:146058200-146058600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:146063400-146064000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr7:146063800-146064200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:146068800-146072800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:146071400-146072800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:146071600-146072600	Enhancers	Fetal Brain Female	brain
32	chr7:146072200-146073200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:146073000-146073200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:146082400-146082800	Enhancers	Fetal Lung	lung

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