Variant report

Variant	nsv875727
Chromosome Location	chr2:205626483-205715245
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:205707571..205709179-chr2:205709317..205711354,2	MCF-7	breast:
2	chr2:205681291..205682929-chr2:205688867..205690549,2	K562	blood:
3	chr2:205591038..205592636-chr2:205700009..205701787,2	MCF-7	breast:
4	chr2:205681291..205682929-chr2:205688867..205690549,2	K562	blood:
5	chr2:205650211..205653326-chr2:205654047..205656174,3	K562	blood:
6	chr2:205707571..205709179-chr2:205709317..205711354,2	MCF-7	breast:
7	chr2:205663276..205663797-chr3:140910816..140911375,4	K562	blood:
8	chr2:205650211..205653326-chr2:205654047..205656174,3	K562	blood:

No data

Extended variants
information (count: 2962 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2962 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16836589	chr2:205626483-205626484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565832687	chr2:205626521-205626522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369252308	chr2:205626621-205626622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185106012	chr2:205626660-205626661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189380924	chr2:205626662-205626663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575965364	chr2:205626669-205626670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369778133	chr2:205626671-205626672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543130217	chr2:205626698-205626699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559957920	chr2:205626705-205626706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191563382	chr2:205626773-205626774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11903029	chr2:205626782-205626783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144560218	chr2:205626837-205626838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13429091	chr2:205626865-205626866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542018667	chr2:205626869-205626870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560883851	chr2:205626937-205626938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527983633	chr2:205626949-205626950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546426708	chr2:205626972-205626973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564343320	chr2:205626992-205626993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531695286	chr2:205627001-205627002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527445518	chr2:205627004-205627005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550331950	chr2:205627007-205627008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568543985	chr2:205627008-205627009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184166360	chr2:205627056-205627057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547603096	chr2:205627094-205627095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565924693	chr2:205627098-205627099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189930811	chr2:205627135-205627136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73060938	chr2:205627136-205627137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs71427757	chr2:205627158-205627159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569587100	chr2:205627179-205627180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557457129	chr2:205627203-205627204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536630162	chr2:205627206-205627207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555092326	chr2:205627241-205627242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546783962	chr2:205627246-205627247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573394762	chr2:205627254-205627255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149723620	chr2:205627298-205627299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540682468	chr2:205627335-205627336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554073024	chr2:205627340-205627341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572571129	chr2:205627385-205627386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117676707	chr2:205627389-205627390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377130629	chr2:205627405-205627406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181091120	chr2:205627410-205627411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532481079	chr2:205627435-205627436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187001205	chr2:205627448-205627449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146572590	chr2:205627462-205627463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143013317	chr2:205627466-205627467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71032408	chr2:205627471-205627472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13029178	chr2:205627478-205627479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369211465	chr2:205627479-205627480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13029328	chr2:205627484-205627485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs5837937	chr2:205627485-205627486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205615400-205628600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:205623000-205628800	Weak transcription	Ovary	ovary
3	chr2:205627800-205629600	ZNF genes & repeats	Liver	Liver
4	chr2:205628200-205629200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:205628400-205629200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:205628800-205629200	ZNF genes & repeats	Ovary	ovary
7	chr2:205635400-205635600	Enhancers	Colon Smooth Muscle	Colon
8	chr2:205635400-205635600	Active TSS	Fetal Brain Male	brain
9	chr2:205635400-205636000	Enhancers	Left Ventricle	heart
10	chr2:205635400-205636200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:205635400-205636200	Enhancers	Ovary	ovary
12	chr2:205635400-205636200	Enhancers	Right Atrium	heart
13	chr2:205635400-205636400	Enhancers	Adipose Nuclei	Adipose
14	chr2:205635400-205636400	Enhancers	Aorta	Aorta
15	chr2:205635400-205637000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:205635400-205637200	Enhancers	Brain Germinal Matrix	brain
17	chr2:205635400-205637400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:205635400-205639200	Enhancers	Fetal Lung	lung
19	chr2:205635600-205636400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:205635600-205640200	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:205635600-205645400	Weak transcription	Fetal Brain Male	brain
22	chr2:205635800-205637200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:205636200-205640200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:205636200-205640200	Weak transcription	Right Atrium	heart
25	chr2:205636200-205640400	Weak transcription	Ovary	ovary
26	chr2:205636400-205640200	Weak transcription	Adipose Nuclei	Adipose
27	chr2:205636400-205640200	Weak transcription	Aorta	Aorta
28	chr2:205636400-205640600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:205637000-205637400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr2:205637200-205640200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:205637400-205637600	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr2:205637400-205640200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:205637600-205638800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:205638800-205640200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr2:205639200-205640200	Weak transcription	Fetal Lung	lung
36	chr2:205640200-205640400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:205640200-205640400	Enhancers	Right Atrium	heart
38	chr2:205640200-205640600	Enhancers	Aorta	Aorta
39	chr2:205640200-205640600	Enhancers	Psoas Muscle	Psoas
40	chr2:205640200-205640800	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:205640200-205641200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:205640200-205641800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:205640200-205641800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:205640200-205642000	Enhancers	Adipose Nuclei	Adipose
45	chr2:205640200-205642200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:205640200-205642200	Enhancers	Colon Smooth Muscle	Colon
47	chr2:205640200-205642200	Enhancers	Fetal Lung	lung
48	chr2:205640200-205645400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr2:205640400-205640800	Enhancers	Ovary	ovary
50	chr2:205640400-205641000	Enhancers	Skeletal Muscle Male	skeletal muscle

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