Variant report

Variant	esv3459877
Chromosome Location	chr2:173554471-173556238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57104776	chr2:173554490-173554491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192271766	chr2:173554507-173554508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185544196	chr2:173554528-173554529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527950682	chr2:173554607-173554608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367912202	chr2:173554618-173554619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552167658	chr2:173554642-173554643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190751229	chr2:173554652-173554653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112802748	chr2:173554659-173554660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373597103	chr2:173554665-173554666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568449268	chr2:173554673-173554674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563459764	chr2:173554727-173554728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536455203	chr2:173554744-173554745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184311890	chr2:173554759-173554760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566797374	chr2:173554775-173554776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534049121	chr2:173554791-173554792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558877793	chr2:173554809-173554810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576942949	chr2:173554816-173554817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537440493	chr2:173554828-173554829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556265917	chr2:173554841-173554842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531505255	chr2:173554882-173554883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574410723	chr2:173554889-173554890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71403336	chr2:173554892-173554893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542429216	chr2:173554896-173554897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142876499	chr2:173554899-173554900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572290142	chr2:173554942-173554943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368039871	chr2:173554944-173554945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370365070	chr2:173554951-173554952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372492733	chr2:173555009-173555010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7580630	chr2:173555024-173555025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374005847	chr2:173555062-173555063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532212256	chr2:173555071-173555072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552016738	chr2:173555122-173555123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531633002	chr2:173555172-173555173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565668516	chr2:173555221-173555222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549864624	chr2:173555254-173555255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200266572	chr2:173555256-173555257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562212862	chr2:173555257-173555258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs836636	chr2:173555289-173555290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7580973	chr2:173555342-173555343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566709877	chr2:173555359-173555360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533956217	chr2:173555364-173555365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4972852	chr2:173555370-173555371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs188365660	chr2:173555392-173555393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375500369	chr2:173555400-173555401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140376069	chr2:173555403-173555404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547432103	chr2:173555421-173555422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555841062	chr2:173555434-173555435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371836393	chr2:173555470-173555471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574489731	chr2:173555496-173555497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535230456	chr2:173555516-173555517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173549800-173557400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr2:173550400-173557200	Weak transcription	Fetal Heart	heart
3	chr2:173552000-173557400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:173553400-173556800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:173554200-173555200	Enhancers	Primary T cells from cord blood	blood
6	chr2:173554800-173555000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:173555200-173557200	Weak transcription	Primary T cells from cord blood	blood
8	chr2:173555400-173557200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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