Variant report

Variant	esv16126
Chromosome Location	chr2:179518009-179528400
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: 136 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200819643	chr2:179518052-179518053	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538381876	chr2:179518060-179518061	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141983264	chr2:179518075-179518076	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13420457	chr2:179518077-179518078	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568561782	chr2:179518118-179518119	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537853954	chr2:179518154-179518155	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554529099	chr2:179518170-179518171	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574694398	chr2:179518180-179518181	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533718878	chr2:179518273-179518274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554034560	chr2:179518745-179518746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577399087	chr2:179518817-179518818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546356284	chr2:179518854-179518855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116792417	chr2:179518860-179518861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576457094	chr2:179518861-179518862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192859964	chr2:179518880-179518881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562208395	chr2:179518889-179518890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184883030	chr2:179518906-179518907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139167585	chr2:179518912-179518913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372316744	chr2:179518914-179518915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200802296	chr2:179518925-179518926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189389531	chr2:179518937-179518938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201780296	chr2:179518955-179518956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2099130	chr2:179518979-179518980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186232617	chr2:179518992-179518993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551811137	chr2:179519004-179519005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199610136	chr2:179519027-179519028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201823018	chr2:179519086-179519087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548192020	chr2:179519108-179519109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1883089	chr2:179519123-179519124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568240637	chr2:179519194-179519195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534126644	chr2:179519222-179519223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553997444	chr2:179519277-179519278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149494189	chr2:179519303-179519304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143949452	chr2:179519330-179519331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539647454	chr2:179519339-179519340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148207286	chr2:179519351-179519352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141949217	chr2:179519389-179519390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200495902	chr2:179519493-179519494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202075225	chr2:179519547-179519548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200069479	chr2:179519667-179519668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576495357	chr2:179519701-179519702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541838188	chr2:179519926-179519927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562147576	chr2:179519973-179519974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3866706	chr2:179520005-179520006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547864943	chr2:179521455-179521456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201179474	chr2:179522262-179522263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572641259	chr2:179522263-179522264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201684070	chr2:179522267-179522268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541757326	chr2:179522307-179522308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564445960	chr2:179522337-179522338	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179438400-179518200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:179479600-179519400	Weak transcription	Fetal Thymus	thymus
3	chr2:179481400-179520000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
5	chr2:179493000-179620800	Weak transcription	HSMM	muscle
6	chr2:179496000-179521600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:179497800-179518400	Weak transcription	Pancreas	Pancrea
8	chr2:179497800-179530400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:179498000-179521000	Weak transcription	Right Ventricle	heart
10	chr2:179501000-179541800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:179508200-179519000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:179509000-179518200	Strong transcription	HSMMtube	muscle
13	chr2:179511800-179518400	Strong transcription	Left Ventricle	heart
14	chr2:179514400-179528400	Weak transcription	Fetal Heart	heart
15	chr2:179515600-179518400	Weak transcription	Thymus	Thymus
16	chr2:179516000-179518200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:179516200-179518200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:179516800-179518600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:179516800-179528400	Weak transcription	Primary B cells from cord blood	blood
20	chr2:179517800-179528400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:179518000-179528200	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:179518000-179528200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:179518000-179528400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:179518000-179529000	Weak transcription	Psoas Muscle	Psoas
25	chr2:179518000-179533400	Weak transcription	Primary T cells from cord blood	blood
26	chr2:179518000-179536000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:179518000-179540200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:179518200-179528200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:179518200-179528200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:179518200-179528200	Weak transcription	HSMMtube	muscle
31	chr2:179518200-179528600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:179518400-179528400	Weak transcription	Left Ventricle	heart
33	chr2:179519000-179528400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:179527000-179529200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:179528200-179528400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:179528200-179528600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:179528200-179530800	Strong transcription	Fetal Muscle Leg	muscle
38	chr2:179528200-179531000	Strong transcription	HSMMtube	muscle
39	chr2:179528200-179601200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:179528400-179529000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:179528400-179529600	Strong transcription	Primary B cells from cord blood	blood
42	chr2:179528400-179529600	Strong transcription	Fetal Heart	heart
43	chr2:179528400-179531800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:179528400-179532000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:179528400-179532200	Strong transcription	Left Ventricle	heart
46	chr2:179528400-179563200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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