Variant report

Variant	nsv460069
Chromosome Location	chr2:212415948-212471642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:212443336..212445425-chr2:212453184..212455748,2	MCF-7	breast:
2	chr2:212408584..212410240-chr2:212416395..212418822,2	MCF-7	breast:
3	chr2:212443336..212445425-chr2:212453184..212455748,2	MCF-7	breast:

Extended variants
information (count: 2338 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2338 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12475861	chr2:212415948-212415949	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192984518	chr2:212415961-212415962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373555462	chr2:212415962-212415963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549745328	chr2:212416028-212416029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13421680	chr2:212416029-212416030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528741149	chr2:212416043-212416044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551758196	chr2:212416117-212416118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571524044	chr2:212416122-212416123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377034874	chr2:212416124-212416125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561787461	chr2:212416177-212416178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537570150	chr2:212416186-212416187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148210415	chr2:212416212-212416213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76758214	chr2:212416255-212416256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536026583	chr2:212416302-212416303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73985484	chr2:212416314-212416315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184146045	chr2:212416329-212416330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376434849	chr2:212416330-212416331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186975057	chr2:212416383-212416384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533766036	chr2:212416450-212416451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113768131	chr2:212416458-212416459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35775342	chr2:212416503-212416504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558536944	chr2:212416513-212416514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117556235	chr2:212416543-212416544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544351312	chr2:212416606-212416607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560962913	chr2:212416612-212416613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532844460	chr2:212416644-212416645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191447137	chr2:212416654-212416655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373056767	chr2:212416656-212416657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559645446	chr2:212416662-212416663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141215026	chr2:212416682-212416683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551754813	chr2:212416746-212416747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199805767	chr2:212416832-212416833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530809197	chr2:212416848-212416849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62180215	chr2:212416850-212416851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567429108	chr2:212416895-212416896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536297605	chr2:212416901-212416902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183643157	chr2:212416911-212416912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566512102	chr2:212416924-212416925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370679818	chr2:212416927-212416928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569651580	chr2:212416975-212416976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538958603	chr2:212416993-212416994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558549631	chr2:212417003-212417004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575242893	chr2:212417035-212417036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536600815	chr2:212417042-212417043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550449676	chr2:212417049-212417050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35361794	chr2:212417060-212417061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537506266	chr2:212417062-212417063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141417983	chr2:212417070-212417071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373916223	chr2:212417075-212417076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79077427	chr2:212417088-212417089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212395400-212419200	Weak transcription	Aorta	Aorta
2	chr2:212411800-212419200	Weak transcription	Gastric	stomach
3	chr2:212413000-212418800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:212418800-212419000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:212419000-212419400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:212419200-212419400	ZNF genes & repeats	Aorta	Aorta
7	chr2:212419200-212419400	Enhancers	Gastric	stomach
8	chr2:212419400-212451800	Weak transcription	Aorta	Aorta
9	chr2:212422200-212422800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:212422800-212428800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:212423200-212426400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:212426400-212426600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:212426600-212426800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:212426800-212437200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:212428800-212429000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:212429000-212429400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:212429000-212437200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:212430400-212430800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr2:212430400-212431000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:212430600-212430800	Active TSS	Brain Anterior Caudate	brain
21	chr2:212430600-212431000	Active TSS	Brain Substantia Nigra	brain
22	chr2:212430800-212431000	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr2:212430800-212431000	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:212430800-212431000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr2:212431600-212432200	Enhancers	Brain Germinal Matrix	brain
26	chr2:212433800-212434000	Enhancers	Brain Germinal Matrix	brain
27	chr2:212435400-212450000	Weak transcription	Fetal Heart	heart
28	chr2:212437200-212437400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:212437200-212437600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:212437400-212437800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:212437600-212438800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:212437800-212438600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:212438600-212439400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:212438600-212439600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:212438800-212439400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:212439400-212439800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:212439400-212441000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:212439600-212440800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:212439800-212440000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:212440000-212443200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:212440800-212441200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:212441000-212441200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:212443200-212444400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:212444400-212451200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:212451200-212456200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:212451800-212452400	Strong transcription	Aorta	Aorta
47	chr2:212452400-212466800	Weak transcription	Aorta	Aorta
48	chr2:212455200-212456400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:212456000-212457600	Enhancers	Fetal Heart	heart
50	chr2:212456200-212456600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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