Variant report

Variant	nsv999603
Chromosome Location	chr2:183465151-183551522
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:33)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183525253..183526981-chr2:183533807..183535350,2	K562	blood:
2	chr2:183497857..183499568-chr2:183500564..183503369,2	K562	blood:
3	chr2:183530500..183533463-chr2:183581172..183582687,2	MCF-7	breast:
4	chr2:183485234..183486908-chr2:183488749..183490647,2	K562	blood:
5	chr2:183165658..183166473-chr2:183513729..183514661,3	MCF-7	breast:
6	chr2:183516388..183518623-chr2:183519704..183522732,3	K562	blood:
7	chr2:183472950..183474900-chr2:183475047..183476914,2	K562	blood:
8	chr2:183516388..183518623-chr2:183519704..183522732,3	K562	blood:
9	chr2:183492322..183494288-chr2:183495772..183497912,2	K562	blood:
10	chr2:183484463..183486734-chr2:183489147..183491693,3	K562	blood:
11	chr2:183050932..183051609-chr2:183514883..183516080,4	MCF-7	breast:
12	chr2:183515898..183518111-chr2:183519211..183521393,2	MCF-7	breast:
13	chr2:183525253..183526981-chr2:183533807..183535350,2	K562	blood:
14	chr2:183497857..183499568-chr2:183500564..183503369,2	K562	blood:
15	chr2:183050662..183051405-chr2:183513747..183514396,3	MCF-7	breast:
16	chr2:183546308..183548876-chr2:183579294..183581951,2	MCF-7	breast:
17	chr2:183533406..183536291-chr2:183538994..183541514,2	MCF-7	breast:
18	chr2:183050633..183051569-chr2:183514775..183515804,6	K562	blood:
19	chr2:183485446..183488008-chr2:183493899..183496895,2	K562	blood:
20	chr2:183105157..183107059-chr2:183513716..183516271,10	MCF-7	breast:
21	chr2:183051017..183051535-chr2:183513719..183514634,2	K562	blood:
22	chr2:183462276..183465034-chr2:183470042..183471619,2	K562	blood:
23	chr2:183485446..183488008-chr2:183493899..183496895,2	K562	blood:
24	chr2:183050946..183051551-chr2:183517788..183518340,2	MCF-7	breast:
25	chr2:183472950..183474900-chr2:183475047..183476914,2	K562	blood:
26	chr2:183484463..183486734-chr2:183489147..183491693,3	K562	blood:
27	chr2:183515898..183518111-chr2:183519211..183521393,2	MCF-7	breast:
28	chr2:183502276..183505154-chr2:183507754..183509508,2	K562	blood:
29	chr2:183502276..183505154-chr2:183507754..183509508,2	K562	blood:
30	chr2:183492322..183494288-chr2:183495772..183497912,2	K562	blood:
31	chr2:183533406..183536291-chr2:183538994..183541514,2	MCF-7	breast:
32	chr2:183523433..183526191-chr2:183577944..183579909,2	MCF-7	breast:
33	chr2:183485234..183486908-chr2:183488749..183490647,2	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE1A-1	chr2:183536804-183536945	XLOC_002420
2	lnc-PDE1A-1	chr2:183539151-183539242	XLOC_002420
3	lnc-PDE1A-1	chr2:183537627-183537875	NONHSAT075909
4	lnc-DNAJC10-3	chr2:183513193-183513418	NONHSAT075908
5	lnc-PDE1A-1	chr2:183537628-183537875	XLOC_002420
6	lnc-DNAJC10-3	chr2:183510878-183510968	NONHSAT075908
7	lnc-PDE1A-1	chr2:183536803-183536945	NONHSAT075909
8	lnc-PDE1A-1	chr2:183539150-183539242	NONHSAT075911
9	lnc-PDE1A-1	chr2:183537303-183537749	XLOC_002420
10	lnc-PDE1A-1	chr2:183537303-183537749	XLOC_002420
11	lnc-PDE1A-1	chr2:183538117-183538135	XLOC_002420
12	lnc-PDE1A-1	chr2:183537302-183537749	NONHSAT075911

No data

Variant related genes	Relation type
ENSG00000077232	chromatin interactions
ENSG00000115252	chromatin interactions

Extended variants
information (count: 2633 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2633 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12693314	chr2:183465151-183465152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544497780	chr2:183465176-183465177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371601136	chr2:183465277-183465278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187422380	chr2:183465316-183465317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562727501	chr2:183465336-183465337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376774769	chr2:183465382-183465383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558313014	chr2:183465385-183465386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375192969	chr2:183465407-183465408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548573447	chr2:183465409-183465410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568740352	chr2:183465428-183465429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13416729	chr2:183465481-183465482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79081960	chr2:183465489-183465490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527647934	chr2:183465493-183465494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191002166	chr2:183465551-183465552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13416838	chr2:183465552-183465553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539921055	chr2:183465570-183465571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138017296	chr2:183465576-183465577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13419447	chr2:183465605-183465606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs535658415	chr2:183465607-183465608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13432896	chr2:183465621-183465622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs541825176	chr2:183465632-183465633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544296358	chr2:183465652-183465653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181018752	chr2:183465681-183465682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186425677	chr2:183465703-183465704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557328159	chr2:183465772-183465773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13419727	chr2:183465773-183465774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs13382205	chr2:183465794-183465795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs143495206	chr2:183465809-183465810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576515293	chr2:183465840-183465841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374677962	chr2:183465844-183465845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542419025	chr2:183465855-183465856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13419827	chr2:183465879-183465880	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527985268	chr2:183465895-183465896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547805422	chr2:183466068-183466069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538201860	chr2:183466094-183466095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564461140	chr2:183466109-183466110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13420165	chr2:183466150-183466151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144056470	chr2:183466160-183466161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79807923	chr2:183466241-183466242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535253850	chr2:183466243-183466244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577957640	chr2:183466284-183466285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71427855	chr2:183466288-183466289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190001934	chr2:183466323-183466324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148673809	chr2:183466329-183466330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574122103	chr2:183466356-183466357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73050421	chr2:183466440-183466441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577189852	chr2:183466449-183466450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562926954	chr2:183466450-183466451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556599622	chr2:183466469-183466470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55796027	chr2:183466478-183466479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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
Intellectual disability	22102821	CNVD
Autism	18522746	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183458600-183470200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:183459600-183493800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:183464000-183473000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:183465800-183466000	Enhancers	Pancreas	Pancrea
5	chr2:183469800-183470200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:183470000-183470200	Enhancers	NHLF	lung
7	chr2:183470200-183480400	Weak transcription	NHLF	lung
8	chr2:183471600-183472400	Enhancers	GM12878-XiMat	blood
9	chr2:183471600-183472800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:183471600-183473000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr2:183473000-183473400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:183473400-183475000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:183478400-183478600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:183478600-183478800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:183478600-183482800	Enhancers	HSMM	muscle
16	chr2:183478600-183486000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:183478800-183479000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:183478800-183479800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:183479000-183480000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:183479000-183481400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:183479800-183480600	Enhancers	NHEK	skin
22	chr2:183479800-183481200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:183479800-183482600	Enhancers	Osteobl	bone
24	chr2:183479800-183482800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:183479800-183483800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:183480000-183483600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:183480000-183483800	Enhancers	NHDF-Ad	bronchial
28	chr2:183480400-183484000	Enhancers	NHLF	lung
29	chr2:183480800-183482600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:183480800-183484200	Enhancers	HUVEC	blood vessel
31	chr2:183481000-183482200	Enhancers	NH-A	brain
32	chr2:183481000-183482600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:183481200-183481400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr2:183481200-183481400	Enhancers	Rectal Smooth Muscle	rectum
35	chr2:183481200-183482200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:183481200-183482200	Enhancers	Hela-S3	cervix
37	chr2:183481200-183483800	Enhancers	HepG2	liver
38	chr2:183481400-183482000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:183481400-183482400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:183481400-183484200	Enhancers	Colon Smooth Muscle	Colon
41	chr2:183481400-183485600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:183481600-183482000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:183481600-183482600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:183481600-183482600	Enhancers	HSMMtube	muscle
45	chr2:183481800-183482000	Enhancers	Fetal Stomach	stomach
46	chr2:183481800-183482000	Enhancers	K562	blood
47	chr2:183482000-183482600	Enhancers	Right Ventricle	heart
48	chr2:183482000-183485600	Weak transcription	K562	blood
49	chr2:183482000-183485800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr2:183482000-183485800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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