Variant report

Variant	esv3451356
Chromosome Location	chr2:116073771-116101275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 447 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572548357	chr2:116073808-116073809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541430898	chr2:116073823-116073824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181483387	chr2:116073840-116073841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2030172	chr2:116073860-116073861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575013368	chr2:116073863-116073864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386649413	chr2:116073904-116073905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191865389	chr2:116073905-116073906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4574126	chr2:116073912-116073913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183965370	chr2:116073926-116073927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13018346	chr2:116073978-116073979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559780980	chr2:116073985-116073986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72840715	chr2:116074055-116074056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548617791	chr2:116074066-116074067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35896960	chr2:116074075-116074076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376162986	chr2:116074120-116074121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs36065374	chr2:116074122-116074123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568537878	chr2:116074154-116074155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115671834	chr2:116074199-116074200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550733313	chr2:116074231-116074232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570594146	chr2:116074250-116074251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527530158	chr2:116074251-116074252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs908599	chr2:116074274-116074275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570285483	chr2:116074283-116074284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552799605	chr2:116074312-116074313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566441540	chr2:116074327-116074328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79549266	chr2:116074354-116074355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532103810	chr2:116074379-116074380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186088159	chr2:116074426-116074427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549624484	chr2:116074432-116074433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2420814	chr2:116074476-116074477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544011176	chr2:116074494-116074495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35319906	chr2:116074508-116074509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77756690	chr2:116074515-116074516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367866067	chr2:116074552-116074553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577412371	chr2:116074558-116074559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546381759	chr2:116074593-116074594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560052928	chr2:116074626-116074627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149472681	chr2:116074661-116074662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528816518	chr2:116074698-116074699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542221541	chr2:116074738-116074739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562097637	chr2:116074771-116074772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577234244	chr2:116074802-116074803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3069645	chr2:116074894-116074895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531023361	chr2:116074955-116074956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36035018	chr2:116075022-116075023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189797457	chr2:116075095-116075096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562184650	chr2:116075106-116075107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115522664	chr2:116075151-116075152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532940816	chr2:116075186-116075187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148408128	chr2:116075209-116075210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17621639	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116068000-116083000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:116070600-116082800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:116079800-116080400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:116084000-116085400	Enhancers	Fetal Intestine Large	intestine
5	chr2:116099800-116100400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:116100400-116103800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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