Variant report

Variant	nsv459574
Chromosome Location	chr2:141833621-141866271
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	chr2:141835054..141836662-chr2:141842749..141844903,2	MCF-7	breast:
2	chr2:141835054..141836662-chr2:141842749..141844903,2	MCF-7	breast:

Extended variants
information (count: 335 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569689418	chr2:141835606-141835607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1882644	chr2:141835615-141835616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373624596	chr2:141835628-141835629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116574018	chr2:141835629-141835630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542161244	chr2:141835638-141835639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74850711	chr2:141835646-141835647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575195296	chr2:141835698-141835699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544201357	chr2:141835824-141835825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544786671	chr2:141835872-141835873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35192825	chr2:141835873-141835874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373388222	chr2:141835880-141835881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200347034	chr2:141835881-141835882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs398090719	chr2:141835882-141835883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199761898	chr2:141835884-141835885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533281903	chr2:141835900-141835901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10168120	chr2:141835903-141835904	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560116927	chr2:141835942-141835943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529200611	chr2:141835959-141835960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139531764	chr2:141835982-141835983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569186299	chr2:141836074-141836075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537797072	chr2:141836097-141836098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183723521	chr2:141836114-141836115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571289300	chr2:141836134-141836135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189730494	chr2:141836136-141836137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553525443	chr2:141836186-141836187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373868720	chr2:141836188-141836189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10524516	chr2:141836191-141836192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112965840	chr2:141836193-141836194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72851244	chr2:141836196-141836197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397837798	chr2:141836199-141836200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368779575	chr2:141836204-141836205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573139526	chr2:141836211-141836212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56950302	chr2:141836219-141836220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs146643586	chr2:141836245-141836246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1525585	chr2:141836246-141836247	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192733887	chr2:141836250-141836251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77398697	chr2:141836277-141836278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141348151	chr2:141836314-141836315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72983183	chr2:141836318-141836319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185098898	chr2:141836333-141836334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189978837	chr2:141836337-141836338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538065455	chr2:141836371-141836372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542849379	chr2:141836372-141836373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556387740	chr2:141836443-141836444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1525584	chr2:141836449-141836450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181730349	chr2:141836527-141836528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1917701	chr2:141836548-141836549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs55680571	chr2:141836587-141836588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs547135101	chr2:141836658-141836659	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs557571482	chr2:141836694-141836695	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	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
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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Bipolar disorder	19114987	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141835600-141835800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:141835800-141836400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:141835800-141837000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:141836000-141836600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:141836000-141836800	Enhancers	Fetal Heart	heart
6	chr2:141836000-141837000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:141836000-141837200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:141836000-141837200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:141836200-141837200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:141836200-141837200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:141836200-141837800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:141836400-141837200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:141836400-141837200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:141836600-141837000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr2:141836800-141837200	Enhancers	Brain Germinal Matrix	brain
16	chr2:141836800-141837200	Enhancers	Dnd41	blood
17	chr2:141849000-141849200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:141849000-141849200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:141850000-141850600	Enhancers	Dnd41	blood
20	chr2:141852400-141852800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:141860800-141861200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:141860800-141861800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:141861000-141861200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:141862800-141864000	Enhancers	Dnd41	blood
25	chr2:141862800-141864200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:141862800-141864400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:141863000-141863200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:141863000-141863600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:141863000-141864400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:141863000-141864600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:141863000-141864600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:141863200-141866400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:141863400-141864000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:141863600-141864000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:141864000-141864200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr2:141864000-141866800	Weak transcription	Dnd41	blood
37	chr2:141864200-141867000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:141864200-141867000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:141864400-141866800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:141864400-141871000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:141864600-141867400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:141864600-141870800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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