Variant report

Variant	nsv963185
Chromosome Location	chr2:177604327-177607501
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	chr2:177603815..177606762-chr2:177609259..177611807,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560452501	chr2:177604329-177604330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572615010	chr2:177604401-177604402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546278337	chr2:177604490-177604491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551976774	chr2:177604493-177604494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77629304	chr2:177604502-177604503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542516099	chr2:177604503-177604504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564988187	chr2:177604513-177604514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148652867	chr2:177604544-177604545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531729618	chr2:177604545-177604546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79168134	chr2:177604548-177604549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547450426	chr2:177604597-177604598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141210792	chr2:177604622-177604623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185833298	chr2:177604623-177604624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547688245	chr2:177604637-177604638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563977263	chr2:177604675-177604676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139091509	chr2:177604744-177604745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551059914	chr2:177604759-177604760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145188761	chr2:177604766-177604767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569450826	chr2:177604774-177604775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114835085	chr2:177604810-177604811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555094635	chr2:177604827-177604828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191033565	chr2:177604859-177604860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76025236	chr2:177604862-177604863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558293527	chr2:177604876-177604877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535740006	chr2:177604966-177604967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533687219	chr2:177605041-177605042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572625314	chr2:177605070-177605071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546464625	chr2:177605102-177605103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181940706	chr2:177605152-177605153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576639846	chr2:177605181-177605182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372225283	chr2:177605203-177605204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543919047	chr2:177605213-177605214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7564441	chr2:177605217-177605218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529300134	chr2:177605230-177605231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540923759	chr2:177605247-177605248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375312068	chr2:177605281-177605282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565520986	chr2:177605332-177605333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532949551	chr2:177605351-177605352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186215371	chr2:177605362-177605363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13030550	chr2:177605388-177605389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530491506	chr2:177605403-177605404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75409670	chr2:177605411-177605412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191069829	chr2:177605413-177605414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145059088	chr2:177605429-177605430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75563831	chr2:177605449-177605450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549453870	chr2:177605473-177605474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147558607	chr2:177605487-177605488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566411785	chr2:177605510-177605511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540018138	chr2:177605533-177605534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7564901	chr2:177605619-177605620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:177603400-177604400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:177603600-177607600	Weak transcription	Ovary	ovary
3	chr2:177605600-177605800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:177605800-177610400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:177606200-177607200	Enhancers	Fetal Lung	lung
6	chr2:177606400-177606600	Enhancers	Fetal Muscle Trunk	muscle
7	chr2:177606600-177606800	Enhancers	Right Atrium	heart
8	chr2:177606800-177607600	Enhancers	Fetal Heart	heart
9	chr2:177606800-177608600	Weak transcription	Right Atrium	heart
10	chr2:177606800-177611800	Weak transcription	Fetal Muscle Trunk	muscle

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