Variant report

Variant	nsv1009424
Chromosome Location	chr2:205969138-206078240
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:206065124..206067806-chr2:206076302..206077858,2	MCF-7	breast:
2	chr2:206065124..206067806-chr2:206076302..206077858,2	MCF-7	breast:
3	chr2:205998792..206000705-chr2:206000789..206004253,3	K562	blood:
4	chr2:206042669..206045245-chr2:206054321..206056254,2	K562	blood:
5	chr2:205996235..205998049-chr2:206006263..206008470,2	K562	blood:
6	chr2:206005530..206007186-chr2:206009709..206011793,2	K562	blood:
7	chr2:205966282..205968302-chr2:205970008..205973001,2	K562	blood:
8	chr2:205996235..205998049-chr2:206006263..206008470,2	K562	blood:
9	chr2:206022756..206024653-chr2:206025824..206027796,2	K562	blood:
10	chr2:206005530..206007186-chr2:206009709..206011793,2	K562	blood:
11	chr1:33442137..33442965-chr2:206013863..206014832,2	MCF-7	breast:
12	chr2:206022756..206024653-chr2:206025824..206027796,2	K562	blood:
13	chr2:205998792..206000705-chr2:206000789..206004253,3	K562	blood:
14	chr2:205866228..205868992-chr2:205974074..205975929,2	K562	blood:
15	chr2:206042669..206045245-chr2:206054321..206056254,2	K562	blood:

No data

Extended variants
information (count: 4416 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:4416 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371493863	chr2:205969146-205969147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374453548	chr2:205969157-205969158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115490230	chr2:205969158-205969159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193246081	chr2:205969162-205969163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184381985	chr2:205969215-205969216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2289025	chr2:205969220-205969221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541713466	chr2:205969238-205969239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75265837	chr2:205969275-205969276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573380200	chr2:205969322-205969323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34328056	chr2:205969348-205969349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540698653	chr2:205969442-205969443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559038222	chr2:205969446-205969447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189262861	chr2:205969455-205969456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544993813	chr2:205969460-205969461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150684384	chr2:205969475-205969476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532074646	chr2:205969511-205969512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550083079	chr2:205969518-205969519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562232377	chr2:205969521-205969522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374611423	chr2:205969549-205969550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529525231	chr2:205969565-205969566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140009593	chr2:205969576-205969577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181344925	chr2:205969603-205969604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74822352	chr2:205969606-205969607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373141794	chr2:205969676-205969677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372769366	chr2:205969691-205969692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149859509	chr2:205969730-205969731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546723701	chr2:205969748-205969749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569834104	chr2:205969794-205969795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185320959	chr2:205969815-205969816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555263942	chr2:205969827-205969828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145453732	chr2:205969828-205969829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116057728	chr2:205969861-205969862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565059343	chr2:205969927-205969928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552605865	chr2:205969954-205969955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111295919	chr2:205969966-205969967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141172475	chr2:205970012-205970013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145129877	chr2:205970036-205970037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369532365	chr2:205970088-205970089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188484025	chr2:205970089-205970090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562375929	chr2:205970109-205970110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181629488	chr2:205970183-205970184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72930553	chr2:205970189-205970190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559583643	chr2:205970202-205970203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116379593	chr2:205970222-205970223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550569354	chr2:205970251-205970252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551464775	chr2:205970277-205970278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373763660	chr2:205970308-205970309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16836946	chr2:205970322-205970323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185851422	chr2:205970337-205970338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536997308	chr2:205970383-205970384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:637 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205953400-205978600	Weak transcription	Fetal Lung	lung
2	chr2:205953400-206007200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:205959600-205971600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:205963800-205990200	Weak transcription	Ovary	ovary
5	chr2:205968200-205986200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:205968800-205972200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:205968800-205978200	Weak transcription	HSMM	muscle
8	chr2:205968800-205990200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:205970000-206026000	Weak transcription	HSMMtube	muscle
10	chr2:205970200-205989800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:205971600-205972400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:205972200-205972600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:205972200-205973200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:205972200-205973200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:205972400-205973200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:205972600-205973400	Enhancers	K562	blood
17	chr2:205972600-205978800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:205972800-205973400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr2:205973200-205973600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:205973200-205974000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:205973400-205994400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:205973400-205998200	Weak transcription	Psoas Muscle	Psoas
23	chr2:205974000-205974200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:205974000-205974200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:205974200-205976200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:205976200-205990000	Weak transcription	Left Ventricle	heart
27	chr2:205976800-206024400	Weak transcription	Aorta	Aorta
28	chr2:205977000-205977400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:205977000-205977600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:205977000-205990200	Weak transcription	Fetal Intestine Large	intestine
31	chr2:205977200-205977600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:205977200-205978000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:205977200-206000200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:205977600-205988600	Weak transcription	NHDF-Ad	bronchial
35	chr2:205978200-205979400	Strong transcription	HSMM	muscle
36	chr2:205978600-205978800	Enhancers	Fetal Lung	lung
37	chr2:205978800-205980000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:205978800-205990400	Weak transcription	Fetal Lung	lung
39	chr2:205978800-205992200	Weak transcription	Fetal Stomach	stomach
40	chr2:205979200-205979800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr2:205979200-205980000	Enhancers	HUVEC	blood vessel
42	chr2:205979400-205988000	Weak transcription	HSMM	muscle
43	chr2:205979400-206014600	Weak transcription	Pancreas	Pancrea
44	chr2:205979800-205983400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:205980000-205990000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:205980600-205990400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:205980600-205994000	Weak transcription	Gastric	stomach
48	chr2:205981000-205984800	Enhancers	Fetal Kidney	kidney
49	chr2:205982000-205983400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:205982400-205997400	Weak transcription	Fetal Muscle Leg	muscle

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