Variant report

Variant	nsv584243
Chromosome Location	chr2:205539092-205630618
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:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:205559125..205561820-chr2:205566265..205568560,2	MCF-7	breast:
2	chr2:205608885..205610697-chr2:205614525..205616047,2	K562	blood:
3	chr2:205528626..205531544-chr2:205538166..205540869,3	MCF-7	breast:
4	chr2:205543850..205546567-chr2:205547015..205549174,2	K562	blood:
5	chr2:205559014..205561100-chr2:205561558..205564355,2	K562	blood:
6	chr2:205608885..205610697-chr2:205614525..205616047,2	K562	blood:
7	chr2:205556432..205556971-chr2:206544576..206545088,2	MCF-7	breast:
8	chr2:205410243..205411831-chr2:205556577..205558475,2	MCF-7	breast:
9	chr2:205559014..205560952-chr2:205561014..205563058,2	K562	blood:
10	chr2:205189312..205190207-chr2:205556559..205557286,2	MCF-7	breast:
11	chr2:205559014..205560952-chr2:205561014..205563058,2	K562	blood:
12	chr2:205124532..205125408-chr2:205556318..205557398,4	MCF-7	breast:
13	chr2:205559125..205561820-chr2:205566265..205568560,2	MCF-7	breast:
14	chr2:205190371..205191309-chr2:205556343..205557179,2	MCF-7	breast:
15	chr2:205543850..205546567-chr2:205547015..205549174,2	K562	blood:
16	chr2:205189870..205190739-chr2:205556292..205557192,3	MCF-7	breast:
17	chr2:205559014..205561100-chr2:205561558..205564355,2	K562	blood:
18	chr2:205591038..205592636-chr2:205700009..205701787,2	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: 3503 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3503 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1016338	chr2:205539092-205539093	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540411644	chr2:205539112-205539113	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565212048	chr2:205539151-205539152	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185339992	chr2:205539163-205539164	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544487473	chr2:205539197-205539198	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1030087	chr2:205539214-205539215	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144356578	chr2:205539233-205539234	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531558628	chr2:205539249-205539250	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377056330	chr2:205539251-205539252	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189651296	chr2:205539288-205539289	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182285539	chr2:205539351-205539352	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528721176	chr2:205539369-205539370	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187318573	chr2:205539371-205539372	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571638656	chr2:205539415-205539416	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538968695	chr2:205539461-205539462	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550828669	chr2:205539467-205539468	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568921015	chr2:205539520-205539521	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536602694	chr2:205539541-205539542	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554804517	chr2:205539549-205539550	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77273033	chr2:205539568-205539569	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533774779	chr2:205539579-205539580	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191113926	chr2:205539627-205539628	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577075441	chr2:205539631-205539632	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544524192	chr2:205539684-205539685	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145543955	chr2:205539687-205539688	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183776064	chr2:205539734-205539735	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541802422	chr2:205539735-205539736	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549138518	chr2:205539755-205539756	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188269895	chr2:205539801-205539802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148877143	chr2:205539865-205539866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551829601	chr2:205539875-205539876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113075717	chr2:205539884-205539885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565152911	chr2:205539896-205539897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532529164	chr2:205539953-205539954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550867545	chr2:205539994-205539995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193269963	chr2:205540028-205540029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142662519	chr2:205540047-205540048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569205303	chr2:205540054-205540055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548540839	chr2:205540062-205540063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183096937	chr2:205540079-205540080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16836499	chr2:205540080-205540081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs35999742	chr2:205540121-205540122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs186666706	chr2:205540144-205540145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538033024	chr2:205540158-205540159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556540660	chr2:205540171-205540172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151014023	chr2:205540196-205540197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191478447	chr2:205540216-205540217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376129358	chr2:205540256-205540257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566826896	chr2:205540292-205540293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571913515	chr2:205540358-205540359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205520800-205542800	Weak transcription	Psoas Muscle	Psoas
2	chr2:205521000-205546200	Weak transcription	Aorta	Aorta
3	chr2:205528000-205546200	Weak transcription	Pancreas	Pancrea
4	chr2:205531200-205545200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:205532200-205539800	Enhancers	HUVEC	blood vessel
6	chr2:205535200-205545200	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:205535400-205542200	Weak transcription	HSMMtube	muscle
8	chr2:205535400-205545600	Weak transcription	Fetal Lung	lung
9	chr2:205537400-205539800	Genic enhancers	HSMM	muscle
10	chr2:205537800-205539200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:205538000-205539200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:205538000-205539200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:205538000-205539400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:205538000-205539400	Enhancers	NHEK	skin
15	chr2:205538000-205539600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:205538200-205539200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:205538200-205539200	Enhancers	NHDF-Ad	bronchial
18	chr2:205538200-205539400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:205538200-205539400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:205538200-205539400	Enhancers	NH-A	brain
21	chr2:205538200-205539400	Enhancers	Osteobl	bone
22	chr2:205538400-205539200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:205538400-205539200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:205538400-205539200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:205538400-205539600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:205538600-205539200	Enhancers	HMEC	breast
27	chr2:205539000-205539200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:205539200-205543600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:205539400-205544600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:205539400-205544800	Weak transcription	NH-A	brain
31	chr2:205539400-205544800	Weak transcription	Osteobl	bone
32	chr2:205539600-205543800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:205539800-205540000	Enhancers	HSMM	muscle
34	chr2:205539800-205547600	Weak transcription	HUVEC	blood vessel
35	chr2:205540000-205543000	Weak transcription	HSMM	muscle
36	chr2:205542200-205542600	Enhancers	HSMMtube	muscle
37	chr2:205542600-205543600	Weak transcription	HSMMtube	muscle
38	chr2:205542800-205543000	Weak transcription	Fetal Intestine Small	intestine
39	chr2:205542800-205543000	Enhancers	Psoas Muscle	Psoas
40	chr2:205543000-205543400	Weak transcription	Psoas Muscle	Psoas
41	chr2:205543000-205543400	ZNF genes & repeats	HSMM	muscle
42	chr2:205543000-205543600	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr2:205543400-205544800	Weak transcription	HSMM	muscle
44	chr2:205543600-205543800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:205543600-205544200	ZNF genes & repeats	HSMMtube	muscle
46	chr2:205543600-205548200	Weak transcription	Fetal Intestine Small	intestine
47	chr2:205544200-205545800	Weak transcription	HSMMtube	muscle
48	chr2:205544600-205547000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:205544800-205545400	Weak transcription	NHLF	lung
50	chr2:205544800-205546400	Enhancers	NH-A	brain

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