Variant report

Variant	nsv583917
Chromosome Location	chr2:183509337-183571049
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:31)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183050662..183051405-chr2:183513747..183514396,3	MCF-7	breast:
2	chr2:183051017..183051535-chr2:183513719..183514634,2	K562	blood:
3	chr2:183533406..183536291-chr2:183538994..183541514,2	MCF-7	breast:
4	chr2:183050633..183051569-chr2:183514775..183515804,6	K562	blood:
5	chr2:183523433..183526191-chr2:183577944..183579909,2	MCF-7	breast:
6	chr2:183530500..183533463-chr2:183581172..183582687,2	MCF-7	breast:
7	chr2:183516388..183518623-chr2:183519704..183522732,3	K562	blood:
8	chr2:183570034..183572518-chr2:183580411..183582264,3	K562	blood:
9	chr2:183525253..183526981-chr2:183533807..183535350,2	K562	blood:
10	chr2:183561976..183564805-chr2:183566522..183568031,2	K562	blood:
11	chr2:183564408..183567308-chr2:183580527..183582877,2	K562	blood:
12	chr2:183569888..183574492-chr2:183579294..183583506,5	MCF-7	breast:
13	chr2:183050932..183051609-chr2:183514883..183516080,4	MCF-7	breast:
14	chr2:183525253..183526981-chr2:183533807..183535350,2	K562	blood:
15	chr2:183515898..183518111-chr2:183519211..183521393,2	MCF-7	breast:
16	chr2:183516388..183518623-chr2:183519704..183522732,3	K562	blood:
17	chr2:183557913..183559489-chr2:183567582..183569465,2	K562	blood:
18	chr2:183050946..183051551-chr2:183517788..183518340,2	MCF-7	breast:
19	chr2:183562956..183565340-chr2:183578999..183580676,2	MCF-7	breast:
20	chr2:183502276..183505154-chr2:183507754..183509508,2	K562	blood:
21	chr2:183571018..183573989-chr2:183580764..183583203,2	K562	blood:
22	chr2:183546308..183548876-chr2:183579294..183581951,2	MCF-7	breast:
23	chr2:183515898..183518111-chr2:183519211..183521393,2	MCF-7	breast:
24	chr2:183568184..183572232-chr2:183575375..183579342,4	K562	blood:
25	chr2:183557913..183559489-chr2:183567582..183569465,2	K562	blood:
26	chr2:183105157..183107059-chr2:183513716..183516271,10	MCF-7	breast:
27	chr2:183569800..183572698-chr2:183572719..183574437,2	MCF-7	breast:
28	chr2:183568340..183570140-chr2:183571899..183573989,2	K562	blood:
29	chr2:183561976..183564805-chr2:183566522..183568031,2	K562	blood:
30	chr2:183165658..183166473-chr2:183513729..183514661,3	MCF-7	breast:
31	chr2:183533406..183536291-chr2:183538994..183541514,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000077232	chromatin interactions
ENSG00000115252	chromatin interactions

Extended variants
information (count: 1267 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1267 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10185220	chr2:183509337-183509338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556965494	chr2:183509356-183509357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573692877	chr2:183509433-183509434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72894683	chr2:183509602-183509603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553081127	chr2:183509624-183509625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572937042	chr2:183509626-183509627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561542907	chr2:183509675-183509676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562027015	chr2:183509712-183509713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs66966503	chr2:183509713-183509714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10211579	chr2:183509741-183509742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564708676	chr2:183509744-183509745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191836679	chr2:183509751-183509752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10211671	chr2:183509789-183509790	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184074704	chr2:183509805-183509806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529229791	chr2:183509837-183509838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549011655	chr2:183509855-183509856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559581966	chr2:183509871-183509872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565068827	chr2:183509909-183509910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551241010	chr2:183509915-183509916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376916748	chr2:183509930-183509931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10177196	chr2:183509955-183509956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs374735549	chr2:183509964-183509965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537305261	chr2:183509965-183509966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368032887	chr2:183509970-183509971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566927546	chr2:183509992-183509993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113100536	chr2:183510003-183510004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202242893	chr2:183510004-183510005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187424806	chr2:183510011-183510012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191605590	chr2:183510015-183510016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536246474	chr2:183510064-183510065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182644029	chr2:183510065-183510066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572806959	chr2:183510123-183510124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76458397	chr2:183510136-183510137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558034599	chr2:183510147-183510148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542373521	chr2:183510148-183510149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543638033	chr2:183510158-183510159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113275412	chr2:183510188-183510189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187300149	chr2:183510233-183510234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563638394	chr2:183510252-183510253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529689634	chr2:183510290-183510291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57975672	chr2:183510303-183510304	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142688310	chr2:183510310-183510311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528550218	chr2:183510312-183510313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35236841	chr2:183510377-183510378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538512585	chr2:183510387-183510388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545497421	chr2:183510391-183510392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147391197	chr2:183510441-183510442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530700956	chr2:183510442-183510443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550839582	chr2:183510476-183510477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567529150	chr2:183510485-183510486	Weak transcription	n/a	n/a	Overlapped CNVs	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183509000-183513600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:183511800-183512400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:183513600-183513800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:183513600-183514200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:183513600-183514400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:183513600-183514400	Enhancers	Hela-S3	cervix
7	chr2:183513800-183514000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:183513800-183514200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:183514000-183514200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:183514000-183514200	Enhancers	Fetal Kidney	kidney
11	chr2:183514000-183514200	Enhancers	Osteobl	bone
12	chr2:183514000-183515000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:183514000-183515200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:183514200-183515200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:183514200-183515200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:183514200-183515200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:183514400-183514800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:183514400-183514800	Weak transcription	Hela-S3	cervix
19	chr2:183514800-183515600	Enhancers	Hela-S3	cervix
20	chr2:183514800-183516000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:183515000-183516000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:183515200-183515400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:183515200-183515400	Enhancers	Osteobl	bone
24	chr2:183515200-183515600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:183515200-183515600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:183515200-183516000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:183515400-183515600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:183515400-183515800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:183515400-183516000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:183515400-183516000	Enhancers	Brain Substantia Nigra	brain
31	chr2:183515600-183519800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:183515800-183516000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:183516800-183517600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:183517000-183517400	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:183519400-183520800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:183519600-183520600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:183519800-183520800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:183520200-183520800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:183520200-183521000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr2:183520600-183521000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:183527800-183528200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:183529000-183529600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:183531400-183532000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr2:183531800-183532200	Enhancers	Primary B cells from peripheral blood	blood
45	chr2:183532400-183533200	Enhancers	HepG2	liver
46	chr2:183533000-183534000	Bivalent Enhancer	Dnd41	blood
47	chr2:183533200-183533600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:183533200-183533600	Flanking Active TSS	HepG2	liver
49	chr2:183533400-183533600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:183533400-183533800	Enhancers	Esophagus	oesophagus

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