Variant report

Variant	nsv966878
Chromosome Location	chr7:117188115-117189344
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	chr7:117184115..117186355-chr7:117188163..117190019,2	K562	blood:
2	chr7:117180519..117183145-chr7:117187916..117190717,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532738831	chr7:117188119-117188120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551478932	chr7:117188142-117188143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80077299	chr7:117188165-117188166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35693763	chr7:117188182-117188183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538470392	chr7:117188183-117188184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550102251	chr7:117188196-117188197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188031894	chr7:117188201-117188202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568601018	chr7:117188219-117188220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548030034	chr7:117188225-117188226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545921413	chr7:117188270-117188271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62469439	chr7:117188370-117188371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562903634	chr7:117188371-117188372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3034794	chr7:117188387-117188388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72194290	chr7:117188388-117188389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397781000	chr7:117188419-117188420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201135955	chr7:117188420-117188421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554479659	chr7:117188430-117188431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572504317	chr7:117188433-117188434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539828310	chr7:117188434-117188435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558272203	chr7:117188483-117188484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576457920	chr7:117188494-117188495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112854680	chr7:117188531-117188532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558444098	chr7:117188551-117188552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192565759	chr7:117188568-117188569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35384080	chr7:117188608-117188609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3832534	chr7:117188660-117188661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4646205	chr7:117188661-117188662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528823432	chr7:117188662-117188663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371831442	chr7:117188680-117188681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10229820	chr7:117188682-117188683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562195055	chr7:117188683-117188684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551227135	chr7:117188684-117188685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1805177	chr7:117188688-117188689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200454589	chr7:117188689-117188690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397508179	chr7:117188693-117188694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397508178	chr7:117188694-117188695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200899224	chr7:117188695-117188696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559197407	chr7:117188702-117188703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532798256	chr7:117188703-117188704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397508180	chr7:117188705-117188706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397508181	chr7:117188719-117188720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397508182	chr7:117188720-117188721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397508184	chr7:117188725-117188726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4727853	chr7:117188736-117188737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397508185	chr7:117188738-117188739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62469440	chr7:117188739-117188740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377629509	chr7:117188743-117188744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201880593	chr7:117188750-117188751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376039579	chr7:117188754-117188755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371107552	chr7:117188755-117188756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117173000-117208000	Weak transcription	Pancreas	Pancrea
2	chr7:117179200-117191800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:117181400-117213400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:117185800-117195400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:117185800-117203600	Weak transcription	Fetal Intestine Large	intestine
6	chr7:117187000-117193000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:117187000-117205200	Weak transcription	Stomach Mucosa	stomach
8	chr7:117187800-117188200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:117187800-117188200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:117187800-117188400	Enhancers	A549	lung

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