Variant report

Variant	nsv971186
Chromosome Location	chr7:125215879-125232939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:125226088..125228401-chr7:125230345..125233728,3	K562	blood:
2	chr7:125218658..125220340-chr7:125222287..125223970,2	K562	blood:
3	chr7:125226088..125228401-chr7:125230345..125233728,3	K562	blood:
4	chr7:125218658..125220340-chr7:125222287..125223970,2	K562	blood:
5	chr7:125203772..125205320-chr7:125225530..125228131,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576031598	chr7:125217234-125217235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113977852	chr7:125217268-125217269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs553797524	chr7:125217321-125217322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs558653605	chr7:125217337-125217338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs576938562	chr7:125217396-125217397	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539123252	chr7:125221853-125221854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73719996	chr7:125221891-125221892	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112322542	chr7:125221904-125221905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114682587	chr7:125221989-125221990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536857897	chr7:125221995-125221996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112290916	chr7:125222020-125222021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181329113	chr7:125222021-125222022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139200035	chr7:125222038-125222039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80296340	chr7:125222052-125222053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555882302	chr7:125222070-125222071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143204350	chr7:125222084-125222085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148666494	chr7:125222103-125222104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377553292	chr7:125222104-125222105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370879953	chr7:125222108-125222109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544682114	chr7:125222109-125222110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185257686	chr7:125222130-125222131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188399220	chr7:125222174-125222175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150333713	chr7:125222181-125222182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112644955	chr7:125230403-125230404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73719998	chr7:125230417-125230418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527494624	chr7:125230420-125230421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535489382	chr7:125230425-125230426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10954077	chr7:125230442-125230443	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs56765390	chr7:125230446-125230447	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566074272	chr7:125230463-125230464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527961351	chr7:125230490-125230491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182945477	chr7:125230497-125230498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564326110	chr7:125230533-125230534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140791272	chr7:125230556-125230557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10500116	chr7:125230594-125230595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562261981	chr7:125230615-125230616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529653272	chr7:125230649-125230650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201971559	chr7:125230652-125230653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143020601	chr7:125230661-125230662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188710348	chr7:125230672-125230673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192647019	chr7:125230676-125230677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147447825	chr7:125230683-125230684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146253600	chr7:125230701-125230702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148587884	chr7:125230729-125230730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373097970	chr7:125230731-125230732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77847282	chr7:125230777-125230778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183372362	chr7:125230808-125230809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568265229	chr7:125230839-125230840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3906282	chr7:125230840-125230841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554869118	chr7:125230912-125230913	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125217200-125217400	ZNF genes & repeats	Psoas Muscle	Psoas
2	chr7:125221800-125222200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:125230400-125231200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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