Variant report

Variant	nsv1006281
Chromosome Location	chr2:213246650-213279954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:213252657..213254943-chr2:213260775..213262754,2	K562	blood:
2	chr2:213252657..213254943-chr2:213260775..213262754,2	K562	blood:

Extended variants
information (count: 972 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:972 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62184099	chr2:213246730-213246731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181406808	chr2:213246742-213246743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538000311	chr2:213246792-213246793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116449547	chr2:213246801-213246802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115889548	chr2:213246819-213246820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533815749	chr2:213246847-213246848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11902897	chr2:213246864-213246865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138179089	chr2:213246880-213246881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529033330	chr2:213246881-213246882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559163347	chr2:213246917-213246918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201295910	chr2:213246920-213246921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575447455	chr2:213246956-213246957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544370941	chr2:213247035-213247036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561074442	chr2:213247036-213247037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11902992	chr2:213247064-213247065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565902397	chr2:213247114-213247115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191843133	chr2:213247156-213247157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149559741	chr2:213247164-213247165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374513688	chr2:213247169-213247170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79593419	chr2:213247172-213247173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551396309	chr2:213247203-213247204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13027907	chr2:213247228-213247229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs537044187	chr2:213247286-213247287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75960268	chr2:213247300-213247301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531562395	chr2:213247308-213247309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73060361	chr2:213247335-213247336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181638897	chr2:213247365-213247366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533646724	chr2:213247390-213247391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10195551	chr2:213247399-213247400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570361752	chr2:213247422-213247423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539384042	chr2:213247493-213247494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530991888	chr2:213247497-213247498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115234146	chr2:213247524-213247525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77417292	chr2:213247527-213247528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544438676	chr2:213247533-213247534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73060362	chr2:213247546-213247547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186206912	chr2:213247576-213247577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371588499	chr2:213247626-213247627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190967881	chr2:213247637-213247638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560595997	chr2:213247644-213247645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536360884	chr2:213247647-213247648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144408648	chr2:213247664-213247665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546153290	chr2:213247727-213247728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562802903	chr2:213247759-213247760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531625037	chr2:213247859-213247860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548450402	chr2:213247930-213247931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77785831	chr2:213247951-213247952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374672408	chr2:213247986-213247987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527439329	chr2:213247987-213247988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553106644	chr2:213247990-213247991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213243400-213248400	Weak transcription	Fetal Heart	heart
2	chr2:213247600-213248200	Weak transcription	Fetal Kidney	kidney
3	chr2:213247600-213249400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:213247800-213248600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:213248000-213249200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:213248000-213250000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:213248200-213248600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:213248200-213249000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr2:213248200-213249400	Enhancers	Fetal Kidney	kidney
10	chr2:213248200-213250400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:213248400-213248800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:213248400-213249000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:213248400-213249200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:213248400-213249400	Enhancers	Fetal Heart	heart
15	chr2:213248400-213250000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:213248600-213250200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:213248800-213249200	Enhancers	Aorta	Aorta
18	chr2:213248800-213249200	Enhancers	Fetal Lung	lung
19	chr2:213249200-213253200	Weak transcription	Aorta	Aorta
20	chr2:213249800-213250200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:213249800-213250800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:213249800-213250800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:213249800-213251200	Enhancers	NHEK	skin
24	chr2:213253200-213253400	Enhancers	Aorta	Aorta
25	chr2:213254800-213255400	Enhancers	Brain Substantia Nigra	brain
26	chr2:213255200-213258000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:213255800-213258000	Enhancers	NHDF-Ad	bronchial
28	chr2:213256600-213257400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:213257000-213257600	Enhancers	Osteobl	bone
30	chr2:213257400-213258000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:213262000-213262200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:213262000-213263200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:213263200-213263600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:213263200-213263600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:213263600-213264600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:213263600-213265000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:213264800-213265000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:213265000-213265200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:213266000-213266200	Enhancers	Fetal Heart	heart
40	chr2:213268000-213268800	Enhancers	Fetal Heart	heart
41	chr2:213268800-213270400	Weak transcription	Fetal Heart	heart
42	chr2:213270400-213271600	Enhancers	Fetal Heart	heart
43	chr2:213271600-213273000	Weak transcription	Fetal Heart	heart
44	chr2:213273000-213274600	Enhancers	Fetal Heart	heart
45	chr2:213273200-213275000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:213273200-213275000	Enhancers	NHDF-Ad	bronchial
47	chr2:213274600-213279200	Weak transcription	Fetal Heart	heart
48	chr2:213275000-213278800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:213275000-213278800	Weak transcription	NHDF-Ad	bronchial
50	chr2:213278800-213279400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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