Variant report

Variant	nsv875279
Chromosome Location	chr2:149111470-149201775
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: 3246 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3246 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17355834	chr2:149111470-149111471	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs372368507	chr2:149111504-149111505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs62183967	chr2:149111521-149111522	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376344176	chr2:149111543-149111544	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs190898476	chr2:149111547-149111548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs150860869	chr2:149111549-149111550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs576295306	chr2:149111560-149111561	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs183472697	chr2:149111597-149111598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs561396215	chr2:149111647-149111648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187465506	chr2:149111658-149111659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540736263	chr2:149111668-149111669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192316005	chr2:149111669-149111670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28605140	chr2:149111670-149111671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2204324	chr2:149111718-149111719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571008262	chr2:149111800-149111801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532084156	chr2:149111828-149111829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550492406	chr2:149111845-149111846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138097604	chr2:149111906-149111907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538093520	chr2:149111909-149111910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188074001	chr2:149111917-149111918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569410977	chr2:149111951-149111952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192727038	chr2:149111993-149111994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539908257	chr2:149112005-149112006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557710898	chr2:149112031-149112032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374984307	chr2:149112034-149112035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575831590	chr2:149112110-149112111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536953346	chr2:149112131-149112132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184302393	chr2:149112137-149112138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201292084	chr2:149112170-149112171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555202387	chr2:149112179-149112180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369394764	chr2:149112227-149112228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540597483	chr2:149112289-149112290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111347554	chr2:149112290-149112291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539818397	chr2:149112312-149112313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149310658	chr2:149112318-149112319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146240626	chr2:149112325-149112326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139420362	chr2:149112382-149112383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573542128	chr2:149112383-149112384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188228678	chr2:149112401-149112402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78108025	chr2:149112438-149112439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181802886	chr2:149112444-149112445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550502589	chr2:149112462-149112463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534231726	chr2:149112475-149112476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562331563	chr2:149112497-149112498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376336525	chr2:149112509-149112510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116156453	chr2:149112600-149112601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184830225	chr2:149112601-149112602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566058075	chr2:149112603-149112604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62183969	chr2:149112658-149112659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539596535	chr2:149112665-149112666	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:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149089200-149119400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:149094600-149115400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:149094600-149119800	Weak transcription	Fetal Stomach	stomach
4	chr2:149096800-149120800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:149100800-149111800	Weak transcription	Left Ventricle	heart
6	chr2:149100800-149137000	Weak transcription	Primary T cells from cord blood	blood
7	chr2:149101000-149126000	Weak transcription	Psoas Muscle	Psoas
8	chr2:149101800-149115400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:149102800-149136600	Weak transcription	Primary B cells from cord blood	blood
10	chr2:149108600-149115200	Weak transcription	Fetal Lung	lung
11	chr2:149109600-149116400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:149111400-149111600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr2:149111400-149115400	Weak transcription	Aorta	Aorta
14	chr2:149115400-149115600	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:149115400-149115800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:149115400-149115800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:149115400-149115800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:149115400-149116000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:149115400-149116200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:149115400-149116200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:149115400-149116200	Enhancers	Aorta	Aorta
22	chr2:149115400-149116200	Enhancers	HUVEC	blood vessel
23	chr2:149115400-149116200	Enhancers	Osteobl	bone
24	chr2:149115600-149116000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:149115600-149116200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:149115600-149116200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:149115600-149116400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:149115800-149116200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:149115800-149116800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:149115800-149119800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:149115800-149119800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:149116000-149116400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:149116000-149116800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:149116000-149119800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:149116200-149116400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:149116200-149116400	Enhancers	Primary hematopoietic stem cells	blood
37	chr2:149116200-149119400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:149116200-149119600	Weak transcription	Osteobl	bone
39	chr2:149116200-149121800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:149116400-149119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:149116400-149119400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:149116400-149119600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:149116600-149116800	Enhancers	Fetal Muscle Trunk	muscle
44	chr2:149116800-149119400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:149116800-149119800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:149117200-149117400	Enhancers	Fetal Lung	lung
47	chr2:149118400-149119600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:149118400-149120200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:149119000-149120000	Enhancers	HepG2	liver
50	chr2:149119000-149121400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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