Variant report

Variant	nsv875587
Chromosome Location	chr2:188461438-188565596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188478443..188481336-chr2:188482033..188484662,2	K562	blood:
2	chr2:188549053..188550995-chr2:188552944..188555111,2	K562	blood:
3	chr2:188506973..188509886-chr2:188511524..188513522,2	MCF-7	breast:
4	chr2:188467603..188470192-chr2:188473529..188476139,3	K562	blood:
5	chr2:188480199..188482146-chr2:188486058..188487606,2	K562	blood:
6	chr2:188560452..188562867-chr2:188563141..188566315,4	K562	blood:
7	chr2:188473165..188475172-chr2:188477640..188480014,2	K562	blood:
8	chr2:188473165..188475172-chr2:188477640..188480014,2	K562	blood:
9	chr2:188478254..188481614-chr2:188483978..188486883,3	K562	blood:
10	chr2:188478443..188481336-chr2:188482033..188484662,2	K562	blood:
11	chr2:188467603..188470192-chr2:188473529..188476139,3	K562	blood:
12	chr2:188523465..188524329-chr2:188707490..188708173,2	MCF-7	breast:
13	chr2:188480221..188482587-chr2:188496790..188498507,2	K562	blood:
14	chr2:188506973..188509886-chr2:188511524..188513522,2	MCF-7	breast:
15	chr2:188554226..188556067-chr2:188557220..188559283,2	K562	blood:
16	chr2:188473583..188475657-chr2:188480041..188481763,2	K562	blood:
17	chr2:188544173..188545945-chr2:188547538..188549082,2	K562	blood:
18	chr2:188480221..188482587-chr2:188496790..188498507,2	K562	blood:
19	chr2:188460269..188463083-chr2:188643990..188646491,2	K562	blood:
20	chr2:188478254..188481614-chr2:188483978..188486883,3	K562	blood:
21	chr2:188554226..188556067-chr2:188557220..188559283,2	K562	blood:
22	chr2:188480199..188482146-chr2:188486058..188487606,2	K562	blood:
23	chr2:188523368..188524314-chr2:188579524..188580267,2	K562	blood:
24	chr2:188506449..188508323-chr2:188511407..188513734,2	K562	blood:
25	chr2:188560452..188562867-chr2:188563141..188566315,4	K562	blood:
26	chr2:188549053..188550995-chr2:188552944..188555111,2	K562	blood:
27	chr2:188506449..188508323-chr2:188511407..188513734,2	K562	blood:
28	chr2:188544173..188545945-chr2:188547538..188549082,2	K562	blood:
29	chr2:188473583..188475657-chr2:188480041..188481763,2	K562	blood:

No data

Extended variants
information (count: 3188 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:3188 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6434225	chr2:188461438-188461439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181976955	chr2:188461440-188461441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540830563	chr2:188461476-188461477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372037091	chr2:188461487-188461488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140345904	chr2:188461488-188461489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574090320	chr2:188461492-188461493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529138642	chr2:188461499-188461500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550118342	chr2:188461615-188461616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544689199	chr2:188461616-188461617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548462015	chr2:188461641-188461642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144282689	chr2:188461665-188461666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375370614	chr2:188461690-188461691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551329917	chr2:188461765-188461766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564063523	chr2:188461771-188461772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10164687	chr2:188461889-188461890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185725191	chr2:188461918-188461919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201968865	chr2:188461940-188461941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539751838	chr2:188462023-188462024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568240031	chr2:188462034-188462035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535245815	chr2:188462039-188462040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35082794	chr2:188462045-188462046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551353706	chr2:188462100-188462101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188889240	chr2:188462118-188462119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568822571	chr2:188462161-188462162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10165010	chr2:188462243-188462244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146564370	chr2:188462250-188462251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537031736	chr2:188462388-188462389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568460960	chr2:188462389-188462390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534486320	chr2:188462390-188462391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555731191	chr2:188462407-188462408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144355292	chr2:188462447-188462448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59084298	chr2:188462456-188462457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555866486	chr2:188462540-188462541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141298400	chr2:188462548-188462549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544414190	chr2:188462549-188462550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556633815	chr2:188462569-188462570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181756447	chr2:188462573-188462574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545006296	chr2:188462576-188462577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560076861	chr2:188462643-188462644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528412203	chr2:188462647-188462648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540135796	chr2:188462683-188462684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561764687	chr2:188462690-188462691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369797705	chr2:188462697-188462698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12993605	chr2:188462715-188462716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12993622	chr2:188462736-188462737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568935455	chr2:188462738-188462739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13017091	chr2:188462754-188462755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551435079	chr2:188462767-188462768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566470558	chr2:188462840-188462841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534524560	chr2:188462918-188462919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188456200-188464000	Weak transcription	Aorta	Aorta
2	chr2:188464000-188464200	Enhancers	Aorta	Aorta
3	chr2:188467400-188467800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:188478000-188478200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:188478200-188479400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:188478800-188479200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:188479200-188482800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:188479400-188480000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:188479400-188480000	Enhancers	Fetal Lung	lung
10	chr2:188479400-188480200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:188479400-188480400	Enhancers	HSMM	muscle
12	chr2:188479400-188480600	Enhancers	HSMMtube	muscle
13	chr2:188479400-188484200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:188479400-188485200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:188479400-188485400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:188479600-188480200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:188479600-188480400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:188479800-188480200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:188479800-188480600	Enhancers	Fetal Kidney	kidney
20	chr2:188479800-188483600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:188480000-188480400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:188480000-188480400	Enhancers	Ovary	ovary
23	chr2:188480000-188480800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr2:188480000-188480800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:188480000-188481000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:188480000-188482600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:188480200-188481000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:188480200-188481200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:188480200-188483400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:188480200-188484200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr2:188480400-188480600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr2:188480400-188482000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:188480400-188482200	Weak transcription	HSMM	muscle
34	chr2:188480400-188482600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:188480400-188483200	Weak transcription	Ovary	ovary
36	chr2:188480400-188484400	Enhancers	Brain Germinal Matrix	brain
37	chr2:188480600-188482600	Weak transcription	HSMMtube	muscle
38	chr2:188480600-188483800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr2:188480800-188481000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:188480800-188481800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:188480800-188482200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:188481000-188482000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:188481000-188482200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:188481000-188482800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:188481200-188481600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:188481600-188484600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:188481800-188483000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr2:188481800-188483200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:188482000-188483000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr2:188482000-188483000	Enhancers	Brain Cingulate Gyrus	brain

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