Variant report

Variant	nsv875785
Chromosome Location	chr2:212683946-212752193
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:212721894..212724751-chr2:212727440..212730383,2	MCF-7	breast:
2	chr2:212721894..212724751-chr2:212727440..212730383,2	MCF-7	breast:
3	chr2:212744009..212744725-chr2:213042131..213043046,2	MCF-7	breast:
4	chr2:212742372..212744206-chr2:213400637..213402216,2	MCF-7	breast:
5	chr2:212702967..212703569-chr6:88775258..88776157,2	MCF-7	breast:
6	chr2:212750930..212753692-chr2:212781524..212783089,2	MCF-7	breast:

Extended variants
information (count: 1368 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1368 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141611625	chr2:212687229-212687230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374321646	chr2:212687244-212687245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564721329	chr2:212687272-212687273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562438269	chr2:212687304-212687305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183924965	chr2:212687329-212687330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1439248	chr2:212687395-212687396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541193562	chr2:212687406-212687407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564350233	chr2:212687413-212687414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113261492	chr2:212687423-212687424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187691419	chr2:212687431-212687432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143279978	chr2:212687449-212687450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1439247	chr2:212687473-212687474	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563527100	chr2:212687484-212687485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs16846873	chr2:212687491-212687492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs67623637	chr2:212687503-212687504	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs72948566	chr2:212687528-212687529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534930160	chr2:212687565-212687566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551558648	chr2:212687572-212687573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528775588	chr2:212687597-212687598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536744035	chr2:212687635-212687636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116788925	chr2:212687639-212687640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6435675	chr2:212687648-212687649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs13431031	chr2:212687652-212687653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs78759630	chr2:212687692-212687693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539196679	chr2:212687693-212687694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552564869	chr2:212687744-212687745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572363391	chr2:212687745-212687746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34087388	chr2:212687809-212687810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150516665	chr2:212687826-212687827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7573807	chr2:212687864-212687865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs386654782	chr2:212687918-212687919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34379058	chr2:212687937-212687938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs371888248	chr2:212687943-212687944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1439246	chr2:212687961-212687962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs73069398	chr2:212687988-212687989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572834579	chr2:212688018-212688019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189834362	chr2:212688038-212688039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528345872	chr2:212688041-212688042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7600511	chr2:212688053-212688054	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs529941984	chr2:212688066-212688067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs67938035	chr2:212688078-212688079	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112522242	chr2:212688095-212688096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1439245	chr2:212688175-212688176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113166885	chr2:212688178-212688179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535974231	chr2:212688184-212688185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575913054	chr2:212692218-212692219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs68029722	chr2:212692219-212692220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs115587696	chr2:212692249-212692250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115322328	chr2:212692267-212692268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183032228	chr2:212692273-212692274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212687200-212687800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:212687600-212688200	Enhancers	HMEC	breast
3	chr2:212692200-212697800	Weak transcription	Fetal Heart	heart
4	chr2:212697800-212699000	Enhancers	Fetal Heart	heart
5	chr2:212700400-212701200	Enhancers	HMEC	breast
6	chr2:212701000-212701400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:212701000-212701400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:212701200-212701600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:212701200-212702000	Weak transcription	HMEC	breast
10	chr2:212701600-212702800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:212702000-212703000	Enhancers	HMEC	breast
12	chr2:212702800-212703000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:212703000-212707800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:212707800-212708600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:212707800-212709000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:212707800-212712600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:212708000-212708400	Enhancers	Fetal Brain Male	brain
18	chr2:212708600-212709600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:212709000-212709400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:212709400-212712400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:212709600-212710000	Enhancers	Fetal Muscle Leg	muscle
22	chr2:212709600-212710200	Enhancers	Aorta	Aorta
23	chr2:212709600-212710400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:212709600-212710600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:212709600-212711800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:212710000-212710600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:212710000-212711000	Enhancers	Brain Germinal Matrix	brain
28	chr2:212710200-212710600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:212710600-212711600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:212710800-212711200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:212711600-212711800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:212732200-212734200	Enhancers	HUVEC	blood vessel
33	chr2:212732400-212733000	Enhancers	Osteobl	bone
34	chr2:212732400-212733400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:212732600-212733200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:212732600-212733400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:212732600-212733400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr2:212732600-212733400	Enhancers	GM12878-XiMat	blood
39	chr2:212732600-212733400	Enhancers	Hela-S3	cervix
40	chr2:212732600-212734400	Enhancers	Fetal Heart	heart
41	chr2:212732800-212733600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr2:212734200-212741800	Weak transcription	HUVEC	blood vessel
43	chr2:212740000-212740600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:212740600-212741800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:212741800-212742000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr2:212741800-212742400	Enhancers	HUVEC	blood vessel
47	chr2:212745600-212746000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr2:212745600-212746800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr2:212745800-212746200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:212745800-212746400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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