Variant report

Variant	nsv875723
Chromosome Location	chr2:205489653-205612846
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:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:205559014..205560952-chr2:205561014..205563058,2	K562	blood:
2	chr2:205410243..205411831-chr2:205556577..205558475,2	MCF-7	breast:
3	chr2:205189915..205190963-chr2:205489616..205490385,4	MCF-7	breast:
4	chr2:205559014..205561100-chr2:205561558..205564355,2	K562	blood:
5	chr2:205529750..205532118-chr2:205534862..205537646,2	MCF-7	breast:
6	chr2:205189312..205190207-chr2:205556559..205557286,2	MCF-7	breast:
7	chr2:205608885..205610697-chr2:205614525..205616047,2	K562	blood:
8	chr2:205124532..205125408-chr2:205556318..205557398,4	MCF-7	breast:
9	chr2:205559014..205561100-chr2:205561558..205564355,2	K562	blood:
10	chr2:205528626..205531544-chr2:205538166..205540869,3	MCF-7	breast:
11	chr2:205543850..205546567-chr2:205547015..205549174,2	K562	blood:
12	chr2:205559125..205561820-chr2:205566265..205568560,2	MCF-7	breast:
13	chr2:205528626..205531544-chr2:205538166..205540869,3	MCF-7	breast:
14	chr2:205591038..205592636-chr2:205700009..205701787,2	MCF-7	breast:
15	chr2:205529750..205532118-chr2:205534862..205537646,2	MCF-7	breast:
16	chr2:205189870..205190739-chr2:205556292..205557192,3	MCF-7	breast:
17	chr2:205190371..205191309-chr2:205556343..205557179,2	MCF-7	breast:
18	chr2:205543850..205546567-chr2:205547015..205549174,2	K562	blood:
19	chr2:205556432..205556971-chr2:206544576..206545088,2	MCF-7	breast:
20	chr2:205559014..205560952-chr2:205561014..205563058,2	K562	blood:
21	chr2:205224697..205225879-chr2:205489571..205490831,7	MCF-7	breast:
22	chr2:205189889..205190768-chr2:205489592..205490486,5	MCF-7	breast:
23	chr2:205559125..205561820-chr2:205566265..205568560,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAPH1-7	chr2:205582054-205582579	NONHSAT076509

No data

Variant related genes	Relation type
ENSG00000116117	chromatin interactions

Extended variants
information (count: 4590 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:4590 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2334802	chr2:205489653-205489654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567801607	chr2:205489672-205489673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114290592	chr2:205489693-205489694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554404182	chr2:205489700-205489701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187339877	chr2:205489751-205489752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578244208	chr2:205489792-205489793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545452084	chr2:205489837-205489838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557381988	chr2:205489848-205489849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141218536	chr2:205489878-205489879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191750894	chr2:205489901-205489902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560934004	chr2:205489919-205489920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145041293	chr2:205489953-205489954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540156330	chr2:205489958-205489959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138880790	chr2:205490001-205490002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550202723	chr2:205490029-205490030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568510330	chr2:205490049-205490050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76071989	chr2:205490098-205490099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548230745	chr2:205490114-205490115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374637802	chr2:205490134-205490135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567781531	chr2:205490145-205490146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184638466	chr2:205490149-205490150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367634199	chr2:205490154-205490155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574343535	chr2:205490223-205490224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368027999	chr2:205490292-205490293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553587494	chr2:205490326-205490327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572008401	chr2:205490363-205490364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539334490	chr2:205490372-205490373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149386817	chr2:205490374-205490375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202004427	chr2:205490453-205490454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575554362	chr2:205490465-205490466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189877548	chr2:205490490-205490491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555018804	chr2:205490499-205490500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373767441	chr2:205490550-205490551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573233558	chr2:205490553-205490554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73059031	chr2:205490562-205490563	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564729517	chr2:205490570-205490571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532319899	chr2:205490578-205490579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544057659	chr2:205490688-205490689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs193267777	chr2:205490729-205490730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185400428	chr2:205490763-205490764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372307436	chr2:205490765-205490766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554631947	chr2:205490766-205490767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189461864	chr2:205490841-205490842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566594615	chr2:205490851-205490852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527369520	chr2:205490884-205490885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547259197	chr2:205490899-205490900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181013522	chr2:205490908-205490909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144775302	chr2:205490925-205490926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551261084	chr2:205491009-205491010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73059032	chr2:205491014-205491015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
Breast cancer	21045282	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
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:873 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205477000-205491800	Weak transcription	Fetal Lung	lung
2	chr2:205481200-205493600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:205481400-205501000	Weak transcription	Aorta	Aorta
4	chr2:205481600-205494200	Weak transcription	Fetal Brain Male	brain
5	chr2:205482200-205493800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:205484000-205493000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:205484000-205493800	Weak transcription	HSMM	muscle
8	chr2:205485600-205490000	Weak transcription	Ovary	ovary
9	chr2:205486000-205499200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:205486800-205490200	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:205487000-205490000	Weak transcription	Gastric	stomach
12	chr2:205488600-205494000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:205490000-205490200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:205490000-205490200	Enhancers	Gastric	stomach
15	chr2:205490000-205490200	Enhancers	Left Ventricle	heart
16	chr2:205490000-205490200	Enhancers	Ovary	ovary
17	chr2:205490000-205490600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:205490200-205490600	Enhancers	Colon Smooth Muscle	Colon
19	chr2:205490200-205497400	Weak transcription	Ovary	ovary
20	chr2:205490200-205505000	Weak transcription	Left Ventricle	heart
21	chr2:205490600-205493600	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:205491800-205493800	Enhancers	Fetal Lung	lung
23	chr2:205493000-205493200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:205493000-205493800	Enhancers	NHDF-Ad	bronchial
25	chr2:205493200-205493600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:205493200-205493600	Enhancers	Osteobl	bone
27	chr2:205493200-205494000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:205493200-205494000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:205493400-205494000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:205493600-205494400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:205493600-205494400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:205493600-205494400	Enhancers	Colon Smooth Muscle	Colon
33	chr2:205493800-205494000	Flanking Active TSS	Fetal Lung	lung
34	chr2:205493800-205494200	Enhancers	HSMM	muscle
35	chr2:205493800-205495000	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:205494000-205494200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:205494000-205494200	Active TSS	Fetal Lung	lung
38	chr2:205494000-205494200	Enhancers	HSMMtube	muscle
39	chr2:205494200-205494400	Enhancers	Fetal Brain Male	brain
40	chr2:205494200-205494400	Flanking Active TSS	Fetal Lung	lung
41	chr2:205494200-205508800	Weak transcription	HSMM	muscle
42	chr2:205494200-205509800	Weak transcription	HSMMtube	muscle
43	chr2:205494400-205496000	Weak transcription	Fetal Brain Male	brain
44	chr2:205495000-205503200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:205496800-205497600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:205497400-205497600	Enhancers	Fetal Brain Male	brain
47	chr2:205497400-205497600	Enhancers	Gastric	stomach
48	chr2:205497400-205497600	Enhancers	Ovary	ovary
49	chr2:205497600-205497800	Weak transcription	Ovary	ovary
50	chr2:205500200-205500800	Enhancers	HUVEC	blood vessel

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