Variant report

Variant	esv3417741
Chromosome Location	chr2:167961656-167965354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:167956736..167958627-chr2:167962848..167965164,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571579270	chr2:167961671-167961672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534000222	chr2:167961702-167961703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73015926	chr2:167961706-167961707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532937175	chr2:167961742-167961743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62197385	chr2:167961759-167961760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190627339	chr2:167961771-167961772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560151245	chr2:167961822-167961823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182920747	chr2:167961888-167961889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576662641	chr2:167961979-167961980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545414128	chr2:167961995-167961996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564878592	chr2:167962032-167962033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572094841	chr2:167962123-167962124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554099059	chr2:167962184-167962185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548656272	chr2:167962199-167962200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138232207	chr2:167962207-167962208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7557440	chr2:167962241-167962242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549998147	chr2:167962288-167962289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187087101	chr2:167962330-167962331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192209035	chr2:167962364-167962365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79544789	chr2:167962407-167962408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552209816	chr2:167962420-167962421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59670643	chr2:167962429-167962430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs533941638	chr2:167962433-167962434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371604614	chr2:167962438-167962439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567416661	chr2:167962488-167962489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375940903	chr2:167962491-167962492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183512430	chr2:167962493-167962494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113804583	chr2:167962532-167962533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377010325	chr2:167962549-167962550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576590013	chr2:167962571-167962572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115646089	chr2:167962593-167962594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12105903	chr2:167962595-167962596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572032905	chr2:167962611-167962612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187478078	chr2:167962614-167962615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571897944	chr2:167962615-167962616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541031019	chr2:167962626-167962627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146073625	chr2:167962631-167962632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375910420	chr2:167962645-167962646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76606633	chr2:167962661-167962662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192329180	chr2:167962688-167962689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563468116	chr2:167962701-167962702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182514073	chr2:167962717-167962718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546038472	chr2:167962776-167962777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559590530	chr2:167962781-167962782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138811167	chr2:167962782-167962783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368826825	chr2:167962815-167962816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541734701	chr2:167962856-167962857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528414215	chr2:167962857-167962858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373446873	chr2:167962867-167962868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78367328	chr2:167962885-167962886	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
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
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167960600-167966200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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