Variant report

Variant	esv3357124
Chromosome Location	chr2:173275963-173276528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552960940	chr2:173275989-173275990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144064426	chr2:173275994-173275995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116448568	chr2:173275997-173275998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186985350	chr2:173276052-173276053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558251499	chr2:173276084-173276085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533644171	chr2:173276132-173276133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs68029311	chr2:173276133-173276134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200502736	chr2:173276134-173276135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142049539	chr2:173276140-173276141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200926069	chr2:173276141-173276142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201790072	chr2:173276142-173276143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542879828	chr2:173276146-173276147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537678675	chr2:173276148-173276149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544972869	chr2:173276151-173276152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76262018	chr2:173276154-173276155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142162946	chr2:173276155-173276156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201362482	chr2:173276159-173276160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528745647	chr2:173276164-173276165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546898920	chr2:173276170-173276171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564890490	chr2:173276177-173276178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368042610	chr2:173276178-173276179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs67860091	chr2:173276183-173276184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28437911	chr2:173276184-173276185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs66882947	chr2:173276185-173276186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200925293	chr2:173276192-173276193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370802181	chr2:173276193-173276194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76923203	chr2:173276196-173276197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78478161	chr2:173276201-173276202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550653128	chr2:173276205-173276206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78995479	chr2:173276209-173276210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76816685	chr2:173276211-173276212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371245001	chr2:173276212-173276213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537231139	chr2:173276213-173276214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548879923	chr2:173276215-173276216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567460885	chr2:173276220-173276221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534864904	chr2:173276233-173276234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs28679867	chr2:173276235-173276236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577701273	chr2:173276262-173276263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77375363	chr2:173276265-173276266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557071091	chr2:173276267-173276268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575221765	chr2:173276269-173276270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542722041	chr2:173276271-173276272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374669659	chr2:173276277-173276278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs28479587	chr2:173276294-173276295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79941065	chr2:173276309-173276310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544823388	chr2:173276321-173276322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs36162282	chr2:173276330-173276331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540523779	chr2:173276333-173276334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565278602	chr2:173276344-173276345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554495542	chr2:173276353-173276354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173270000-173277600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:173270400-173277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:173272800-173276400	Enhancers	HUVEC	blood vessel
4	chr2:173273400-173277600	Weak transcription	Adipose Nuclei	Adipose
5	chr2:173273400-173278000	Weak transcription	Left Ventricle	heart
6	chr2:173273400-173280600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:173273600-173277400	Weak transcription	Thymus	Thymus
8	chr2:173274000-173281000	Weak transcription	Fetal Kidney	kidney
9	chr2:173274600-173277800	Weak transcription	Pancreas	Pancrea
10	chr2:173274600-173290200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:173274800-173280000	Weak transcription	Stomach Mucosa	stomach
12	chr2:173275600-173281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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