Variant report

Variant	esv3329661
Chromosome Location	chr2:186505557-186507705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150857846	chr2:186505563-186505564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550448002	chr2:186505631-186505632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188358857	chr2:186505652-186505653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73033663	chr2:186505659-186505660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs193291444	chr2:186505710-186505711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115896395	chr2:186505726-186505727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185581039	chr2:186505743-186505744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553096436	chr2:186505871-186505872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555447743	chr2:186505879-186505880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577717009	chr2:186505890-186505891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373361104	chr2:186505900-186505901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573957465	chr2:186505910-186505911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538571691	chr2:186505937-186505938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78059358	chr2:186505994-186505995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78900837	chr2:186505995-186505996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71648869	chr2:186506005-186506006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375311689	chr2:186506023-186506024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538816121	chr2:186506118-186506119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368096622	chr2:186506136-186506137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35969705	chr2:186506151-186506152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189143882	chr2:186506247-186506248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61202376	chr2:186506380-186506381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377701850	chr2:186506384-186506385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34170483	chr2:186506407-186506408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200303188	chr2:186506487-186506488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565286401	chr2:186506494-186506495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs137946654	chr2:186506500-186506501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371544802	chr2:186506516-186506517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180923960	chr2:186506560-186506561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561566325	chr2:186506572-186506573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71411134	chr2:186506584-186506585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201964231	chr2:186506585-186506586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549187201	chr2:186506586-186506587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59786440	chr2:186506587-186506588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60218955	chr2:186506595-186506596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60677985	chr2:186506616-186506617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71014616	chr2:186506619-186506620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112253481	chr2:186506629-186506630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528852182	chr2:186506660-186506661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183504567	chr2:186506710-186506711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12992042	chr2:186506730-186506731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs532971289	chr2:186506782-186506783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551129096	chr2:186506844-186506845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542988093	chr2:186506908-186506909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372319015	chr2:186506916-186506917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13410805	chr2:186506929-186506930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs534061947	chr2:186506943-186506944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188675191	chr2:186506991-186506992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79162084	chr2:186507006-186507007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538238393	chr2:186507061-186507062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Ependymoma	20639864	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186503800-186508200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:186504200-186509000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:186505400-186508400	Weak transcription	Fetal Stomach	stomach
4	chr2:186507000-186507200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:186507000-186510400	Enhancers	Fetal Intestine Small	intestine
6	chr2:186507000-186511000	Enhancers	Fetal Intestine Large	intestine
7	chr2:186507200-186508400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:186507600-186511200	Enhancers	HepG2	liver

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