Variant report

Variant	nsv967509
Chromosome Location	chr7:119162506-119177061
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	chr7:119171216..119174031-chr7:119180101..119182290,2	K562	blood:
2	chr7:119174664..119177243-chr7:119179086..119181541,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556395180	chr7:119173420-119173421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555034224	chr7:119173444-119173445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111858648	chr7:119173452-119173453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573817956	chr7:119173462-119173463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560438216	chr7:119173477-119173478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368717011	chr7:119173543-119173544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577370554	chr7:119173574-119173575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544674028	chr7:119173593-119173594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75156066	chr7:119173617-119173618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530553807	chr7:119173676-119173677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550157893	chr7:119173700-119173701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570999761	chr7:119173821-119173822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529907049	chr7:119173908-119173909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539237593	chr7:119173913-119173914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534942910	chr7:119173915-119173916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538845249	chr7:119173971-119173972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76798586	chr7:119173990-119173991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374510573	chr7:119174034-119174035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538385657	chr7:119174111-119174112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183329504	chr7:119174133-119174134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564448596	chr7:119174162-119174163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574783843	chr7:119174177-119174178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543326738	chr7:119174188-119174189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35120408	chr7:119174297-119174298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398006020	chr7:119174301-119174302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28421982	chr7:119174304-119174305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139021434	chr7:119174320-119174321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143041603	chr7:119174392-119174393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573576248	chr7:119174399-119174400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545971690	chr7:119174444-119174445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76646918	chr7:119174580-119174581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556366982	chr7:119174582-119174583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569741899	chr7:119174585-119174586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77610091	chr7:119174704-119174705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543912795	chr7:119174707-119174708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560676570	chr7:119174714-119174715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529716676	chr7:119174766-119174767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540123066	chr7:119174798-119174799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186557653	chr7:119174801-119174802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568685974	chr7:119174871-119174872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192233407	chr7:119174882-119174883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552401030	chr7:119174903-119174904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7797628	chr7:119174918-119174919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531795310	chr7:119174951-119174952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548701782	chr7:119175107-119175108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184614913	chr7:119175118-119175119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562452984	chr7:119175156-119175157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187970784	chr7:119175213-119175214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147481926	chr7:119175265-119175266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571103650	chr7:119175268-119175269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Cancer	20164919	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119173400-119175200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:119174600-119174800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:119174800-119175400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:119174800-119175800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:119175200-119175600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:119175400-119176000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:119175600-119176000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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