Variant report

Variant	nsv875280
Chromosome Location	chr2:149115432-149198275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:149134166..149136482-chr2:149845391..149847794,2	MCF-7	breast:
2	chr2:149130660..149131621-chr21:9826960..9827638,2	MCF-7	breast:
3	chr15:28276602..28277139-chr2:149188463..149189398,2	MCF-7	breast:

Extended variants
information (count: 2959 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2959 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10497033	chr2:149115432-149115433	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566592714	chr2:149115490-149115491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569184951	chr2:149115536-149115537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371831474	chr2:149115544-149115545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527669399	chr2:149115572-149115573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16828586	chr2:149115631-149115632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553574364	chr2:149115665-149115666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554684607	chr2:149115726-149115727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149257122	chr2:149115728-149115729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538948117	chr2:149115743-149115744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557189335	chr2:149115767-149115768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559090176	chr2:149115777-149115778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191043066	chr2:149115897-149115898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114197780	chr2:149115899-149115900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561104067	chr2:149115906-149115907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573320225	chr2:149115909-149115910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375988495	chr2:149115920-149115921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540360602	chr2:149115934-149115935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565133574	chr2:149115938-149115939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7592019	chr2:149115939-149115940	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567828952	chr2:149116019-149116020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534002185	chr2:149116061-149116062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373090016	chr2:149116070-149116071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538158587	chr2:149116074-149116075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144435806	chr2:149116145-149116146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369827535	chr2:149116188-149116189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555621607	chr2:149116202-149116203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35838466	chr2:149116206-149116207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548243855	chr2:149116222-149116223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556293454	chr2:149116261-149116262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566337145	chr2:149116286-149116287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377738263	chr2:149116312-149116313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10208839	chr2:149116334-149116335	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551936408	chr2:149116371-149116372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148430917	chr2:149116426-149116427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145080727	chr2:149116539-149116540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557250627	chr2:149116551-149116552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113564728	chr2:149116566-149116567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538888474	chr2:149116578-149116579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536531707	chr2:149116596-149116597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546209910	chr2:149116597-149116598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188427987	chr2:149116650-149116651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144580476	chr2:149116836-149116837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79550101	chr2:149116837-149116838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs3076505	chr2:149116852-149116853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77155767	chr2:149116855-149116856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1404185	chr2:149116866-149116867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540731096	chr2:149116884-149116885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572137338	chr2:149116941-149116942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542233284	chr2:149116959-149116960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149089200-149119400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:149094600-149119800	Weak transcription	Fetal Stomach	stomach
3	chr2:149096800-149120800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:149100800-149137000	Weak transcription	Primary T cells from cord blood	blood
5	chr2:149101000-149126000	Weak transcription	Psoas Muscle	Psoas
6	chr2:149102800-149136600	Weak transcription	Primary B cells from cord blood	blood
7	chr2:149109600-149116400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:149115400-149115600	Enhancers	Primary hematopoietic stem cells	blood
9	chr2:149115400-149115800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:149115400-149115800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:149115400-149115800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:149115400-149116000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:149115400-149116200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:149115400-149116200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:149115400-149116200	Enhancers	Aorta	Aorta
16	chr2:149115400-149116200	Enhancers	HUVEC	blood vessel
17	chr2:149115400-149116200	Enhancers	Osteobl	bone
18	chr2:149115600-149116000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:149115600-149116200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:149115600-149116200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:149115600-149116400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:149115800-149116200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:149115800-149116800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:149115800-149119800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:149115800-149119800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:149116000-149116400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:149116000-149116800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:149116000-149119800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:149116200-149116400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:149116200-149116400	Enhancers	Primary hematopoietic stem cells	blood
31	chr2:149116200-149119400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:149116200-149119600	Weak transcription	Osteobl	bone
33	chr2:149116200-149121800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:149116400-149119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:149116400-149119400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:149116400-149119600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:149116600-149116800	Enhancers	Fetal Muscle Trunk	muscle
38	chr2:149116800-149119400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:149116800-149119800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:149117200-149117400	Enhancers	Fetal Lung	lung
41	chr2:149118400-149119600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr2:149118400-149120200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:149119000-149120000	Enhancers	HepG2	liver
44	chr2:149119000-149121400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:149119000-149121800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:149119400-149119800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr2:149119400-149119800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:149119400-149120000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:149119400-149120200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:149119400-149120200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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