Variant report

Variant	nsv1014136
Chromosome Location	chr2:212883977-212915640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:212891168..212892898-chr5:170814131..170816510,2	MCF-7	breast:
2	chr2:212891576..212893248-chr2:212907537..212909277,2	K562	blood:
3	chr2:212891576..212893248-chr2:212907537..212909277,2	K562	blood:

Variant related genes	Relation type
ENSG00000181163	chromatin interactions

Extended variants
information (count: 1011 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1011 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550921111	chr2:212883977-212883978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs137915393	chr2:212883978-212883979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149526817	chr2:212883985-212883986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77937207	chr2:212883989-212883990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553162962	chr2:212884006-212884007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572854084	chr2:212884059-212884060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538771390	chr2:212884061-212884062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181472014	chr2:212884083-212884084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549469170	chr2:212884084-212884085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575224510	chr2:212884116-212884117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17343458	chr2:212884126-212884127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545255754	chr2:212884216-212884217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112130251	chr2:212884221-212884222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541615288	chr2:212884295-212884296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559071908	chr2:212884319-212884320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559946900	chr2:212884331-212884332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528671619	chr2:212884359-212884360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545520269	chr2:212884397-212884398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565210876	chr2:212884425-212884426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561281954	chr2:212884441-212884442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79481053	chr2:212884480-212884481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368132533	chr2:212884483-212884484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57810159	chr2:212884501-212884502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139582399	chr2:212884502-212884503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567573797	chr2:212884517-212884518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377617379	chr2:212884537-212884538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76925934	chr2:212884544-212884545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370797528	chr2:212884552-212884553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546573247	chr2:212884573-212884574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566698612	chr2:212884599-212884600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572671960	chr2:212884659-212884660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186947707	chr2:212884718-212884719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191756759	chr2:212884731-212884732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568826773	chr2:212884757-212884758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141278288	chr2:212884774-212884775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184003755	chr2:212884776-212884777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368280115	chr2:212884787-212884788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574094015	chr2:212884800-212884801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542958277	chr2:212884826-212884827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543700519	chr2:212884839-212884840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146088636	chr2:212884876-212884877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545241387	chr2:212884909-212884910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565393220	chr2:212884917-212884918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78329529	chr2:212884935-212884936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544620076	chr2:212884963-212884964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79588502	chr2:212884976-212884977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530108191	chr2:212885018-212885019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374626002	chr2:212885033-212885034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112328401	chr2:212885044-212885045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373932335	chr2:212885047-212885048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212881000-212884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:212882800-212892000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:212883200-212886600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:212883600-212884200	Enhancers	Fetal Heart	heart
5	chr2:212883800-212892000	Weak transcription	Osteobl	bone
6	chr2:212884200-212889800	Weak transcription	Fetal Heart	heart
7	chr2:212886600-212887000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:212886600-212887200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:212886600-212887200	Enhancers	HUVEC	blood vessel
10	chr2:212887000-212887400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:212887000-212887400	Enhancers	HMEC	breast
12	chr2:212887200-212892000	Weak transcription	HUVEC	blood vessel
13	chr2:212887400-212896600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:212888400-212889800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:212888600-212889000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:212888800-212889400	Enhancers	Brain Anterior Caudate	brain
17	chr2:212889000-212891800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:212889400-212893000	Weak transcription	Brain Anterior Caudate	brain
19	chr2:212889800-212890400	Enhancers	Fetal Heart	heart
20	chr2:212889800-212892600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:212890400-212892200	Weak transcription	Fetal Heart	heart
22	chr2:212891800-212893000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:212891800-212893800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:212891800-212894200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:212892000-212892400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:212892000-212893400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:212892000-212893400	Enhancers	HUVEC	blood vessel
28	chr2:212892000-212894000	Enhancers	Osteobl	bone
29	chr2:212892200-212893000	Enhancers	Hela-S3	cervix
30	chr2:212892200-212893000	Enhancers	HSMM	muscle
31	chr2:212892200-212893200	Enhancers	Fetal Heart	heart
32	chr2:212892200-212893800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:212892400-212893000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:212892400-212893000	Enhancers	NHLF	lung
35	chr2:212892400-212896200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:212892600-212893200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:212892600-212893800	Enhancers	HSMMtube	muscle
38	chr2:212892600-212894800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:212892800-212893000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:212892800-212893000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:212892800-212893600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:212893000-212893400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:212893000-212893400	Enhancers	Brain Anterior Caudate	brain
44	chr2:212893000-212895200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:212893000-212896200	Weak transcription	HSMM	muscle
46	chr2:212893000-212896200	Weak transcription	NHLF	lung
47	chr2:212893000-212896400	Weak transcription	Hela-S3	cervix
48	chr2:212893000-212896800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:212893200-212893400	Enhancers	Aorta	Aorta
50	chr2:212893200-212894400	Weak transcription	Fetal Heart	heart

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