Variant report

Variant	nsv1013728
Chromosome Location	chr2:98868824-98881340
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	chr2:98868004..98870745-chr2:98873730..98876518,2	K562	blood:
2	chr2:98868004..98870745-chr2:98873730..98876518,2	K562	blood:

Extended variants
information (count: 283 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:283 , 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	rs7598554	chr2:98868824-98868825	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550971756	chr2:98868830-98868831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538419329	chr2:98868865-98868866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62156727	chr2:98868897-98868898	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551016286	chr2:98868919-98868920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567830383	chr2:98868924-98868925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115863556	chr2:98868925-98868926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186501156	chr2:98868934-98868935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62156728	chr2:98868940-98868941	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539178701	chr2:98868941-98868942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558910645	chr2:98868957-98868958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11901562	chr2:98868978-98868979	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs572063419	chr2:98869009-98869010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369779032	chr2:98869028-98869029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556992351	chr2:98869062-98869063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577336957	chr2:98869082-98869083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386648439	chr2:98869126-98869127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539792718	chr2:98869133-98869134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79826248	chr2:98869166-98869167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542416122	chr2:98869207-98869208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556662461	chr2:98869245-98869246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150083063	chr2:98869264-98869265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376238488	chr2:98869344-98869345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11903804	chr2:98869406-98869407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190543618	chr2:98869432-98869433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564872854	chr2:98869475-98869476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530456629	chr2:98869493-98869494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138397823	chr2:98869538-98869539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567868881	chr2:98869546-98869547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576189777	chr2:98869561-98869562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62156729	chr2:98869609-98869610	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561700988	chr2:98869677-98869678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547209804	chr2:98869686-98869687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199955722	chr2:98869716-98869717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75516905	chr2:98869718-98869719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62156730	chr2:98869719-98869720	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs78215640	chr2:98869735-98869736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569201611	chr2:98869780-98869781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537875460	chr2:98869781-98869782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557172445	chr2:98869782-98869783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182115874	chr2:98869811-98869812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141848033	chr2:98869812-98869813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552744779	chr2:98869817-98869818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146284870	chr2:98869829-98869830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545068526	chr2:98869876-98869877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546123282	chr2:98869877-98869878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575146921	chr2:98869905-98869906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4851953	chr2:98869914-98869915	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs377156357	chr2:98869929-98869930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560981744	chr2:98869935-98869936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98865200-98870000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:98868200-98870200	Enhancers	Fetal Brain Female	brain
3	chr2:98868400-98869400	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:98868400-98870400	Enhancers	Fetal Brain Male	brain
5	chr2:98868600-98869200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr2:98868600-98869400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:98868600-98869400	Enhancers	GM12878-XiMat	blood
8	chr2:98868800-98869400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:98868800-98870400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:98868800-98870600	Enhancers	Brain Germinal Matrix	brain
11	chr2:98869000-98870800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:98869800-98870400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:98869800-98870400	Enhancers	Brain Angular Gyrus	brain
14	chr2:98869800-98870400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:98869800-98870600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:98869800-98871000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:98869800-98871400	Enhancers	Ovary	ovary
18	chr2:98870000-98870400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:98870000-98870600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:98870000-98870800	Enhancers	Esophagus	oesophagus
21	chr2:98870200-98871200	Weak transcription	Fetal Brain Female	brain
22	chr2:98871000-98872000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:98871200-98871400	Enhancers	Fetal Brain Female	brain
24	chr2:98872000-98872200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:98872000-98872200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:98875400-98878000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:98878000-98880400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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