Variant report

Variant	esv9996
Chromosome Location	chr2:188730191-188734987
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	rs553586243	chr2:188730193-188730194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572240333	chr2:188730218-188730219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143780482	chr2:188730271-188730272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544338732	chr2:188730300-188730301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115370380	chr2:188730348-188730349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151166088	chr2:188730349-188730350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543787046	chr2:188730357-188730358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79387069	chr2:188730419-188730420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193058934	chr2:188730425-188730426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11887509	chr2:188730535-188730536	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs373744929	chr2:188730539-188730540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140234779	chr2:188730555-188730556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561176319	chr2:188730592-188730593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78114381	chr2:188730648-188730649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552121865	chr2:188730701-188730702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550214449	chr2:188730750-188730751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571173257	chr2:188730846-188730847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558163017	chr2:188730881-188730882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538275997	chr2:188730905-188730906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376543878	chr2:188730945-188730946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565764639	chr2:188730963-188730964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370719585	chr2:188730964-188730965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554800857	chr2:188731010-188731011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576344652	chr2:188731014-188731015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76679644	chr2:188731058-188731059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146929587	chr2:188731079-188731080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185194914	chr2:188731161-188731162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189694091	chr2:188731166-188731167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376435379	chr2:188731197-188731198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs137856205	chr2:188731202-188731203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75968394	chr2:188731205-188731206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572187579	chr2:188731234-188731235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76975304	chr2:188731235-188731236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112901553	chr2:188731284-188731285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374031692	chr2:188731310-188731311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192789452	chr2:188731321-188731322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183771704	chr2:188731325-188731326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75661770	chr2:188731331-188731332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188399261	chr2:188731335-188731336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114438718	chr2:188731377-188731378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370308972	chr2:188731387-188731388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376097063	chr2:188731399-188731400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78773901	chr2:188731477-188731478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146081721	chr2:188731482-188731483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529803437	chr2:188731494-188731495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181879883	chr2:188731495-188731496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569821031	chr2:188731504-188731505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138657893	chr2:188731506-188731507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558782245	chr2:188731507-188731508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570642147	chr2:188731526-188731527	Weak transcription	n/a	n/a	Overlapped CNVs	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
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
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188727400-188738000	Weak transcription	Ovary	ovary
2	chr2:188729000-188730600	Enhancers	Fetal Heart	heart
3	chr2:188729400-188730400	Enhancers	A549	lung
4	chr2:188729800-188730200	Enhancers	HepG2	liver
5	chr2:188729800-188730400	Enhancers	Stomach Mucosa	stomach
6	chr2:188730000-188730600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:188731800-188732200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
8	chr2:188732200-188740000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:188734400-188734600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:188734600-188734800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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