Variant report

Variant	esv1810414
Chromosome Location	chr2:179516812-179528326
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: 194 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370157162	chr2:179516829-179516830	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369002632	chr2:179516842-179516843	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373791597	chr2:179516843-179516844	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573657954	chr2:179516863-179516864	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375386450	chr2:179516864-179516865	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72650062	chr2:179516868-179516869	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs398124449	chr2:179516888-179516889	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373056460	chr2:179516915-179516916	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376260242	chr2:179516921-179516922	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187365142	chr2:179516985-179516986	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372882834	chr2:179517000-179517001	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12474306	chr2:179517019-179517020	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs397517555	chr2:179517039-179517040	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72650061	chr2:179517050-179517051	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552922153	chr2:179517054-179517055	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200916144	chr2:179517088-179517089	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544606300	chr2:179517105-179517106	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs72650060	chr2:179517116-179517117	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183059602	chr2:179517159-179517160	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187786192	chr2:179517163-179517164	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397517554	chr2:179517175-179517176	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560962534	chr2:179517185-179517186	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371380876	chr2:179517208-179517209	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375519815	chr2:179517222-179517223	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397517553	chr2:179517227-179517228	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73038314	chr2:179517230-179517231	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371945519	chr2:179517255-179517256	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368056479	chr2:179517262-179517263	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192464868	chr2:179517267-179517268	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184888200	chr2:179517277-179517278	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368134449	chr2:179517313-179517314	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371385316	chr2:179517314-179517315	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200190671	chr2:179517348-179517349	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369786685	chr2:179517358-179517359	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373915613	chr2:179517369-179517370	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373516134	chr2:179517379-179517380	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532069408	chr2:179517403-179517404	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548745743	chr2:179517417-179517418	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs367805038	chr2:179517418-179517419	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375066056	chr2:179517455-179517456	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568601377	chr2:179517457-179517458	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536343341	chr2:179517458-179517459	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552745605	chr2:179517462-179517463	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140711137	chr2:179517486-179517487	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371373712	chr2:179517496-179517497	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550055060	chr2:179517502-179517503	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188088890	chr2:179517506-179517507	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375699886	chr2:179517579-179517580	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369631190	chr2:179517603-179517604	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150223722	chr2:179517605-179517606	Strong transcription Weak transcription Genic enhancers	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:47 , 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	chr2:179509200-179518000	Strong transcription	Primary T cells from cord blood	blood
14	chr2:179511800-179518400	Strong transcription	Left Ventricle	heart
15	chr2:179513600-179518000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:179514200-179517800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:179514400-179518000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr2:179514400-179528400	Weak transcription	Fetal Heart	heart
19	chr2:179515200-179518000	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:179515600-179518400	Weak transcription	Thymus	Thymus
21	chr2:179516000-179518000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr2:179516000-179518000	Strong transcription	Psoas Muscle	Psoas
23	chr2:179516000-179518200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr2:179516200-179518000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:179516200-179518200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:179516800-179518600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:179516800-179528400	Weak transcription	Primary B cells from cord blood	blood
28	chr2:179517800-179528400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:179518000-179528200	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:179518000-179528200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:179518000-179528400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:179518000-179529000	Weak transcription	Psoas Muscle	Psoas
33	chr2:179518000-179533400	Weak transcription	Primary T cells from cord blood	blood
34	chr2:179518000-179536000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:179518000-179540200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr2:179518200-179528200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:179518200-179528200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:179518200-179528200	Weak transcription	HSMMtube	muscle
39	chr2:179518200-179528600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:179518400-179528400	Weak transcription	Left Ventricle	heart
41	chr2:179519000-179528400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:179527000-179529200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:179528200-179528400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:179528200-179528600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:179528200-179530800	Strong transcription	Fetal Muscle Leg	muscle
46	chr2:179528200-179531000	Strong transcription	HSMMtube	muscle
47	chr2:179528200-179601200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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