Variant report

Variant	nsv583755
Chromosome Location	chr2:179519922-179528335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:179528004-179528021	GM13976	blood:	n/a	n/a
2	CTCF	chr2:179526675-179526747	LNCaP	prostate:	n/a	n/a
3	POLR2A	chr2:179521638-179521741	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
TTN	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541838188	chr2:179519926-179519927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562147576	chr2:179519973-179519974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs3866706	chr2:179520005-179520006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547864943	chr2:179521455-179521456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201179474	chr2:179522262-179522263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572641259	chr2:179522263-179522264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201684070	chr2:179522267-179522268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541757326	chr2:179522307-179522308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564445960	chr2:179522337-179522338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533310959	chr2:179522345-179522346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549980392	chr2:179522377-179522378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562217623	chr2:179522513-179522514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531461501	chr2:179522795-179522796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373173616	chr2:179522817-179522818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199901448	chr2:179522861-179522862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377422414	chr2:179522874-179522875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568086259	chr2:179523005-179523006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200977796	chr2:179523287-179523288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533838815	chr2:179523293-179523294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547664921	chr2:179523368-179523369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570767771	chr2:179523427-179523428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201797790	chr2:179523450-179523451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556414069	chr2:179523502-179523503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371171326	chr2:179523505-179523506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200021871	chr2:179523514-179523515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570037319	chr2:179523544-179523545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377613608	chr2:179523556-179523557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535985890	chr2:179523580-179523581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555474482	chr2:179523582-179523583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146110527	chr2:179523590-179523591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572359602	chr2:179523594-179523595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140191471	chr2:179523611-179523612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143881077	chr2:179523649-179523650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557997378	chr2:179523707-179523708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200992277	chr2:179523753-179523754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398124448	chr2:179523777-179523778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202241329	chr2:179523807-179523808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200469347	chr2:179523927-179523928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577941033	chr2:179524138-179524139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543589630	chr2:179524169-179524170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563939210	chr2:179524257-179524258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199922974	chr2:179525023-179525024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201013646	chr2:179525241-179525242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76318004	chr2:179525404-179525405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs202213864	chr2:179525442-179525443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200342566	chr2:179525552-179525553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541951843	chr2:179526442-179526443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561631048	chr2:179526513-179526514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201654513	chr2:179526523-179526524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370765948	chr2:179526524-179526525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179481400-179520000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
3	chr2:179493000-179620800	Weak transcription	HSMM	muscle
4	chr2:179496000-179521600	Weak transcription	Fetal Intestine Large	intestine
5	chr2:179497800-179530400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:179498000-179521000	Weak transcription	Right Ventricle	heart
7	chr2:179501000-179541800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:179514400-179528400	Weak transcription	Fetal Heart	heart
9	chr2:179516800-179528400	Weak transcription	Primary B cells from cord blood	blood
10	chr2:179517800-179528400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:179518000-179528200	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:179518000-179528200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:179518000-179528400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr2:179518000-179529000	Weak transcription	Psoas Muscle	Psoas
15	chr2:179518000-179533400	Weak transcription	Primary T cells from cord blood	blood
16	chr2:179518000-179536000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:179518000-179540200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:179518200-179528200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:179518200-179528200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:179518200-179528200	Weak transcription	HSMMtube	muscle
21	chr2:179518200-179528600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:179518400-179528400	Weak transcription	Left Ventricle	heart
23	chr2:179519000-179528400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:179527000-179529200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:179528200-179528400	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:179528200-179528600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:179528200-179530800	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:179528200-179531000	Strong transcription	HSMMtube	muscle
29	chr2:179528200-179601200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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