Variant report

Variant	nsv979376
Chromosome Location	chr2:151597799-151608644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:151607201..151610194-chr2:151614017..151616219,2	K562	blood:
2	chr2:151602745..151605688-chr2:151608426..151610874,3	MCF-7	breast:
3	chr2:151602745..151605688-chr2:151608426..151610874,3	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368267152	chr2:151598629-151598630	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569054114	chr2:151598644-151598645	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138198234	chr2:151598667-151598668	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555079052	chr2:151598706-151598707	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574738657	chr2:151598723-151598724	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181517408	chr2:151598799-151598800	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186286080	chr2:151598835-151598836	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577089078	chr2:151598873-151598874	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189870231	chr2:151598875-151598876	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13418645	chr2:151598934-151598935	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531970290	chr2:151599190-151599191	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12477164	chr2:151607040-151607041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150066725	chr2:151607103-151607104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112667837	chr2:151607130-151607131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544317398	chr2:151607163-151607164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62169263	chr2:151607252-151607253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528398129	chr2:151607288-151607289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574590061	chr2:151607352-151607353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540196809	chr2:151607400-151607401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560207559	chr2:151607409-151607410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13429061	chr2:151607518-151607519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200171761	chr2:151607547-151607548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1401802	chr2:151607557-151607558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568204037	chr2:151607590-151607591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1401803	chr2:151607656-151607657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs1401804	chr2:151607683-151607684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs13033622	chr2:151607687-151607688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547983166	chr2:151607749-151607750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145293297	chr2:151607758-151607759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75574920	chr2:151607761-151607762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527793579	chr2:151607873-151607874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570099778	chr2:151607902-151607903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149189835	chr2:151607914-151607915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570782435	chr2:151607984-151607985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540106666	chr2:151608012-151608013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556628437	chr2:151608080-151608081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193206897	chr2:151608166-151608167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146810204	chr2:151608243-151608244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140630346	chr2:151608253-151608254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184367849	chr2:151608254-151608255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188794776	chr2:151608263-151608264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553706864	chr2:151608354-151608355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576798906	chr2:151608376-151608377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145621290	chr2:151608381-151608382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562593705	chr2:151608427-151608428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10803820	chr2:151608579-151608580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs112547351	chr2:151608610-151608611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541588595	chr2:151608623-151608624	Weak transcription Enhancers	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
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
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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151598600-151599000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:151598600-151599000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:151598600-151599000	Active TSS	Osteobl	bone
4	chr2:151598600-151599200	Active TSS	NHDF-Ad	bronchial
5	chr2:151607000-151607400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:151607000-151607800	Enhancers	NHEK	skin
7	chr2:151607200-151607600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:151607200-151607600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr2:151607200-151607600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:151607200-151607600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:151607200-151607600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:151607200-151607800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:151607400-151607600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:151607600-151608600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:151607600-151611400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:151607600-151611400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:151607800-151608200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:151607800-151608200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:151607800-151611600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:151608200-151608400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:151608400-151611200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:151608600-151608800	Enhancers	H9 Cell Line	embryonic stem cell

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