Variant report

Variant	nsv437297
Chromosome Location	chr2:151869171-151873561
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:151868019..151872391-chr2:151872649..151877183,5	K562	blood:
2	chr2:151868019..151872391-chr2:151872649..151877183,5	K562	blood:
3	chr2:151872234..151873840-chr2:151877034..151878622,2	MCF-7	breast:
4	chr2:151867304..151868964-chr2:151869029..151870769,2	MCF-7	breast:
5	chr2:151869309..151871014-chr2:151874369..151876111,2	MCF-7	breast:

Extended variants
information (count: 172 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10184969	chr2:151869171-151869172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545080518	chr2:151869198-151869199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564964432	chr2:151869203-151869204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35622458	chr2:151869205-151869206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10187633	chr2:151869226-151869227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184041511	chr2:151869229-151869230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10172940	chr2:151869231-151869232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374637186	chr2:151869248-151869249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530371727	chr2:151869338-151869339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546924650	chr2:151869478-151869479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11684685	chr2:151869511-151869512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs10187955	chr2:151869515-151869516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551524161	chr2:151869615-151869616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571331732	chr2:151869616-151869617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537051436	chr2:151869623-151869624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114924184	chr2:151869630-151869631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200542704	chr2:151869641-151869642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141884509	chr2:151869646-151869647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57481972	chr2:151869647-151869648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377215459	chr2:151869648-151869649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201530957	chr2:151869654-151869655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199674745	chr2:151869659-151869660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191925555	chr2:151869666-151869667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562861070	chr2:151869697-151869698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183307349	chr2:151869710-151869711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114257320	chr2:151869711-151869712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187103112	chr2:151869753-151869754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7585828	chr2:151869754-151869755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7597842	chr2:151869808-151869809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs544204560	chr2:151869822-151869823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7572164	chr2:151869823-151869824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs530367050	chr2:151869886-151869887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540898802	chr2:151869934-151869935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560595042	chr2:151869940-151869941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532768880	chr2:151869944-151869945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550031108	chr2:151869949-151869950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539687992	chr2:151870015-151870016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7572404	chr2:151870040-151870041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571366908	chr2:151870057-151870058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111628667	chr2:151870065-151870066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550634152	chr2:151870067-151870068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567235431	chr2:151870174-151870175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139519061	chr2:151870179-151870180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182330479	chr2:151870180-151870181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7598311	chr2:151870187-151870188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs538457609	chr2:151870198-151870199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17270016	chr2:151870214-151870215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs575382203	chr2:151870248-151870249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544291157	chr2:151870249-151870250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34514401	chr2:151870259-151870260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151843800-151871000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:151865600-151872800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:151871000-151871200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:151871200-151872200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:151872200-151872400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:151872200-151873800	Enhancers	Fetal Lung	lung

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