Variant report

Variant	nsv224
Chromosome Location	chr2:126439664-126461757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:126441721..126443799-chr2:126451980..126453632,2	K562	blood:
2	chr2:126441149..126442866-chr2:126450432..126451944,2	K562	blood:
3	chr2:126441149..126442866-chr2:126450432..126451944,2	K562	blood:
4	chr2:126441721..126443799-chr2:126451980..126453632,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTNAP5-2	chr2:126456152-126456276	NONHSAT074117
2	lnc-CNTNAP5-2	chr2:126456152-126456276	FPKM1_group_17139_transcript_1
3	lnc-CNTNAP5-2	chr2:126457983-126458113	FPKM1_group_17139_transcript_1

No data

Extended variants
information (count: 275 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76423360	chr2:126439676-126439677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200405886	chr2:126439677-126439678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536889280	chr2:126439678-126439679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201250407	chr2:126439679-126439680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536215041	chr2:126439712-126439713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555640290	chr2:126439750-126439751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536286029	chr2:126439772-126439773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375504259	chr2:126439804-126439805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369887677	chr2:126439868-126439869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374028909	chr2:126439877-126439878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199617230	chr2:126439885-126439886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376172352	chr2:126439895-126439896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577391808	chr2:126439902-126439903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142396906	chr2:126439951-126439952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181854827	chr2:126439973-126439974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11428634	chr2:126439984-126439985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11404244	chr2:126439985-126439986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397769273	chr2:126439986-126439987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111925087	chr2:126439987-126439988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113811116	chr2:126439988-126439989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111234304	chr2:126439989-126439990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573311068	chr2:126440027-126440028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185496237	chr2:126440035-126440036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144731507	chr2:126440095-126440096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528823188	chr2:126440104-126440105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189805377	chr2:126440123-126440124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180715334	chr2:126440127-126440128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545179642	chr2:126440135-126440136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2052815	chr2:126440151-126440152	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186556982	chr2:126440185-126440186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561321486	chr2:126440223-126440224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376000061	chr2:126440233-126440234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546720483	chr2:126440247-126440248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564797405	chr2:126440271-126440272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566840783	chr2:126440273-126440274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534636365	chr2:126440293-126440294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551232034	chr2:126440294-126440295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571123082	chr2:126440300-126440301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs151183331	chr2:126440378-126440379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556639483	chr2:126440390-126440391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370250045	chr2:126440407-126440408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573701598	chr2:126440422-126440423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536336630	chr2:126440455-126440456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552723000	chr2:126440472-126440473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2052814	chr2:126440477-126440478	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149108026	chr2:126440479-126440480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183726974	chr2:126440483-126440484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs5834121	chr2:126440516-126440517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3980633	chr2:126440537-126440538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78601280	chr2:126440538-126440539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126438600-126440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:126439400-126440800	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr2:126439400-126441200	Enhancers	Adipose Nuclei	Adipose
4	chr2:126440000-126440200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:126440600-126441400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:126441400-126443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:126441600-126443200	Enhancers	GM12878-XiMat	blood
8	chr2:126442800-126443200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:126443000-126443200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:126451800-126453200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:126453800-126454200	Enhancers	Brain Substantia Nigra	brain
12	chr2:126453800-126454600	Enhancers	Brain Hippocampus Middle	brain
13	chr2:126454000-126455200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:126454000-126455200	Enhancers	Hela-S3	cervix
15	chr2:126454200-126455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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