Variant report

Variant	nsv527435
Chromosome Location	chr7:145717550-145732003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:145721579..145724410-chr7:145727561..145729692,3	K562	blood:
2	chr7:145715314..145718621-chr7:145718754..145721889,3	K562	blood:
3	chr7:145716150..145718866-chr7:145724746..145727382,4	K562	blood:
4	chr7:145721579..145724410-chr7:145727561..145729692,3	K562	blood:
5	chr7:145706930..145710318-chr7:145716575..145718700,3	K562	blood:
6	chr7:145716150..145718866-chr7:145724746..145727382,4	K562	blood:
7	chr7:145728196..145729845-chr7:145732878..145734449,2	K562	blood:
8	chr7:145709801..145711953-chr7:145718759..145720900,2	K562	blood:
9	chr7:145715314..145718621-chr7:145718754..145721889,3	K562	blood:
10	chr7:145716150..145718502-chr7:145724762..145727451,3	K562	blood:
11	chr7:145716150..145718502-chr7:145724762..145727451,3	K562	blood:

No data

Extended variants
information (count: 242 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6965855	chr7:145717550-145717551	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560707210	chr7:145717554-145717555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186955516	chr7:145717559-145717560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546346045	chr7:145717569-145717570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115366657	chr7:145717578-145717579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141863774	chr7:145717609-145717610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115775494	chr7:145717646-145717647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150690047	chr7:145717708-145717709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13240373	chr7:145717715-145717716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs368270481	chr7:145717716-145717717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140158958	chr7:145717738-145717739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374869714	chr7:145717742-145717743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565576220	chr7:145717774-145717775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369343418	chr7:145717788-145717789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6966233	chr7:145717819-145717820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191000063	chr7:145717835-145717836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569700450	chr7:145717853-145717854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373875488	chr7:145717923-145717924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571807871	chr7:145717932-145717933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73464895	chr7:145717936-145717937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543129024	chr7:145717992-145717993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376839635	chr7:145718010-145718011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57930760	chr7:145718015-145718016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192473473	chr7:145718070-145718071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567148646	chr7:145718073-145718074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536187335	chr7:145718092-145718093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183506474	chr7:145718100-145718101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572698318	chr7:145718101-145718102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546384487	chr7:145718105-145718106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558290823	chr7:145718116-145718117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188864381	chr7:145718117-145718118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576433791	chr7:145718127-145718128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544119926	chr7:145718139-145718140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371084596	chr7:145718146-145718147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538667010	chr7:145718150-145718151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562155754	chr7:145718154-145718155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529259122	chr7:145718164-145718165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540956899	chr7:145718224-145718225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559195637	chr7:145718226-145718227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140034814	chr7:145718238-145718239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56653994	chr7:145718239-145718240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532977395	chr7:145718240-145718241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547360753	chr7:145718255-145718256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57886306	chr7:145718285-145718286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569655011	chr7:145718305-145718306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530678088	chr7:145718306-145718307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55963320	chr7:145718335-145718336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs60937617	chr7:145718357-145718358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568911324	chr7:145718358-145718359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551681520	chr7:145718359-145718360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145717200-145717600	Enhancers	K562	blood
2	chr7:145717600-145722000	Weak transcription	K562	blood
3	chr7:145718600-145719800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:145718800-145719400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:145718800-145719600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr7:145718800-145719600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:145719000-145720200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:145719200-145719600	Enhancers	H1 Cell Line	embryonic stem cell

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