Variant report

Variant	nsv608960
Chromosome Location	chr7:147280317-147283018
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	chr20:53098001..53098695-chr7:147280534..147281382,2	MCF-7	breast:

Extended variants
information (count: 138 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10226499	chr7:147280317-147280318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10226510	chr7:147280337-147280338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs10241611	chr7:147280338-147280339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543085368	chr7:147280371-147280372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10244825	chr7:147280382-147280383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573263684	chr7:147280387-147280388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183877531	chr7:147280410-147280411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140374341	chr7:147280421-147280422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145456978	chr7:147280488-147280489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114690783	chr7:147280493-147280494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34920436	chr7:147280552-147280553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs28654757	chr7:147280555-147280556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs201574277	chr7:147280596-147280597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73741413	chr7:147280623-147280624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71183019	chr7:147280624-147280625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192930035	chr7:147280649-147280650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34407140	chr7:147280652-147280653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10245208	chr7:147280658-147280659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs10227024	chr7:147280716-147280717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10255433	chr7:147280742-147280743	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150983393	chr7:147280749-147280750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55843999	chr7:147280766-147280767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112673086	chr7:147280772-147280773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182994938	chr7:147280776-147280777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569306009	chr7:147280799-147280800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187362037	chr7:147280819-147280820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191854285	chr7:147280863-147280864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573400894	chr7:147280939-147280940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542244713	chr7:147280952-147280953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183846200	chr7:147280967-147280968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141012687	chr7:147280990-147280991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189196172	chr7:147280991-147280992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10230213	chr7:147281034-147281035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs78410201	chr7:147281046-147281047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150215296	chr7:147281051-147281052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544416709	chr7:147281084-147281085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73741416	chr7:147281089-147281090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530201588	chr7:147281090-147281091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192618709	chr7:147281096-147281097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185616224	chr7:147281122-147281123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs995893	chr7:147281125-147281126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116779990	chr7:147281151-147281152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs995892	chr7:147281160-147281161	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569527243	chr7:147281189-147281190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373274236	chr7:147281199-147281200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138736627	chr7:147281205-147281206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554723468	chr7:147281214-147281215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567059525	chr7:147281219-147281220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs995891	chr7:147281247-147281248	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552934727	chr7:147281266-147281267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147268000-147283800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:147278400-147283800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:147280400-147282200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:147280800-147282200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:147281000-147282200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:147281000-147282400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:147281000-147284400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:147281400-147282000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:147281400-147284800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:147281400-147284800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:147281600-147282400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:147281600-147284600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:147281800-147282200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:147281800-147282200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr7:147281800-147282200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:147281800-147282200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:147281800-147282200	Enhancers	Gastric	stomach
18	chr7:147281800-147283000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:147282200-147283000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:147282200-147283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:147282200-147283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:147282200-147283600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:147282200-147283600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:147282400-147282800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:147282400-147282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:147282800-147283200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:147282800-147284600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:147283000-147283200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr7:147283000-147283200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:147283000-147283800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:147283000-147284400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:147283000-147284800	Enhancers	H1 Cell Line	embryonic stem cell

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