Variant report

Variant	esv20938
Chromosome Location	chr2:167447880-167462030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 193 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs12467716	chr2:167448000-167448001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541647937	chr2:167448019-167448020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79585159	chr2:167448082-167448083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547068014	chr2:167448114-167448115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1374595	chr2:167448131-167448132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142889904	chr2:167448172-167448173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77172799	chr2:167448174-167448175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529660442	chr2:167448180-167448181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550465941	chr2:167448181-167448182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543399845	chr2:167448211-167448212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140020047	chr2:167448241-167448242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552854183	chr2:167448243-167448244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566034594	chr2:167448251-167448252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563274699	chr2:167448307-167448308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115583232	chr2:167448312-167448313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201596167	chr2:167448315-167448316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572664867	chr2:167448323-167448324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143936560	chr2:167448364-167448365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190695842	chr2:167448385-167448386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181538234	chr2:167448425-167448426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373545342	chr2:167448465-167448466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556024181	chr2:167448474-167448475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563026969	chr2:167448485-167448486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530561995	chr2:167448499-167448500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371646794	chr2:167448575-167448576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146387020	chr2:167448595-167448596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564778225	chr2:167448597-167448598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374963830	chr2:167448626-167448627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7592457	chr2:167448639-167448640	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541074123	chr2:167448649-167448650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562174164	chr2:167448677-167448678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368164992	chr2:167448679-167448680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560839726	chr2:167448700-167448701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186976206	chr2:167448704-167448705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549833108	chr2:167448730-167448731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563947668	chr2:167448731-167448732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532899399	chr2:167448740-167448741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539019688	chr2:167448756-167448757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74334106	chr2:167448768-167448769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528702694	chr2:167448779-167448780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139742882	chr2:167448789-167448790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372935272	chr2:167448813-167448814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568497524	chr2:167448825-167448826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376335132	chr2:167448832-167448833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74787691	chr2:167448875-167448876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140327696	chr2:167448921-167448922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111680677	chr2:167448929-167448930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76169135	chr2:167448942-167448943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569605061	chr2:167448950-167448951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7581664	chr2:167448965-167448966	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

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
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
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
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Epilepsy	21204806	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167448000-167450800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:167448200-167451000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:167448600-167449600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:167448600-167449600	Enhancers	Osteobl	bone
5	chr2:167448600-167449800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:167448600-167449800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:167448600-167450600	Enhancers	NH-A	brain
8	chr2:167449000-167450600	Enhancers	NHLF	lung
9	chr2:167449800-167451000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:167451000-167451400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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