Variant report

Variant	nsv961461
Chromosome Location	chr2:101043891-101051025
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:100878753..100879520-chr2:101043832..101044773,2	MCF-7	breast:
2	chr2:101033457..101036653-chr2:101042804..101046394,3	MCF-7	breast:
3	chr2:101043749..101044275-chr2:101055367..101055975,2	K562	blood:
4	chr2:100878634..100879528-chr2:101043813..101044750,3	K562	blood:
5	chr2:101023081..101025478-chr2:101042210..101044979,2	MCF-7	breast:
6	chr2:101040106..101042486-chr2:101042782..101044958,2	MCF-7	breast:
7	chr2:101040091..101042710-chr2:101047786..101050567,2	K562	blood:
8	chr2:101041152..101044058-chr2:101179314..101180934,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115526	chromatin interactions
ENSG00000115539	chromatin interactions
ENSG00000238029	chromatin interactions

Extended variants
information (count: 252 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:252 , 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	rs147046491	chr2:101043932-101043933	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs562190174	chr2:101043995-101043996	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs6724744	chr2:101044042-101044043	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529921145	chr2:101044044-101044045	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs6737785	chr2:101044046-101044047	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560351812	chr2:101044047-101044048	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs138291682	chr2:101044056-101044057	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs551952048	chr2:101044059-101044060	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs143583488	chr2:101044072-101044073	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs57084320	chr2:101044079-101044080	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs6710119	chr2:101044144-101044145	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530964561	chr2:101044186-101044187	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550671731	chr2:101044216-101044217	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567964530	chr2:101044236-101044237	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536505271	chr2:101044239-101044240	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192056203	chr2:101044257-101044258	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs368765420	chr2:101044329-101044330	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs183481064	chr2:101044365-101044366	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372928765	chr2:101044374-101044375	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs527247119	chr2:101044431-101044432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs558263039	chr2:101044523-101044524	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574975409	chr2:101044592-101044593	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544219839	chr2:101044593-101044594	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs561769799	chr2:101044624-101044625	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187220487	chr2:101044637-101044638	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574688450	chr2:101044722-101044723	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373023572	chr2:101044750-101044751	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs56660308	chr2:101044760-101044761	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560464940	chr2:101044761-101044762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs62148391	chr2:101044763-101044764	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532389443	chr2:101044794-101044795	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs9646954	chr2:101044795-101044796	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs565398172	chr2:101044806-101044807	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs6728915	chr2:101044816-101044817	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191783153	chr2:101044823-101044824	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs6738787	chr2:101044862-101044863	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs3948255	chr2:101044869-101044870	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183866292	chr2:101044955-101044956	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs186765821	chr2:101045008-101045009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs149395892	chr2:101045065-101045066	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553524045	chr2:101045081-101045082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552326981	chr2:101045089-101045090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568628747	chr2:101045097-101045098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537506000	chr2:101045102-101045103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143952263	chr2:101045126-101045127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574396675	chr2:101045196-101045197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533773374	chr2:101045212-101045213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7591146	chr2:101045216-101045217	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577189377	chr2:101045227-101045228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369518460	chr2:101045251-101045252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101041000-101044400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:101043000-101044400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:101043800-101044000	Enhancers	Colon Smooth Muscle	Colon
4	chr2:101043800-101044200	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:101044000-101044400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:101044000-101044400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:101044400-101045600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:101045800-101046000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:101046000-101046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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