Variant report

Variant	nsv875601
Chromosome Location	chr2:188871436-188934777
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188905933..188908097-chr2:189156165..189158354,2	MCF-7	breast:
2	chr2:188912147..188913962-chr2:188921618..188924228,2	K562	blood:
3	chr2:188922906..188924885-chr2:188926859..188929251,2	K562	blood:
4	chr2:188922906..188924885-chr2:188926859..188929251,2	K562	blood:
5	chr2:188912147..188913962-chr2:188921618..188924228,2	K562	blood:
6	chr2:188917990..188920896-chr2:189154942..189156576,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRC1-2	chr2:188900323-188900438	ENSG00000231689

No data

Variant related genes	Relation type
ENSG00000144366	chromatin interactions

Extended variants
information (count: 2050 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2050 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137909293	chr2:188872227-188872228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546540410	chr2:188872240-188872241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79382160	chr2:188872246-188872247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3060834	chr2:188872284-188872285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397933082	chr2:188872316-188872317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142227543	chr2:188872325-188872326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75904085	chr2:188872611-188872612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6739652	chr2:188872615-188872616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146189688	chr2:188872653-188872654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553386018	chr2:188872664-188872665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575103767	chr2:188872669-188872670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553435936	chr2:188872690-188872691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541442517	chr2:188872734-188872735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369342175	chr2:188872769-188872770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563259717	chr2:188872775-188872776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574913288	chr2:188872809-188872810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573859627	chr2:188872844-188872845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139479824	chr2:188872845-188872846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16829566	chr2:188872896-188872897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186912842	chr2:188872946-188872947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200236223	chr2:188872959-188872960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115046497	chr2:188872984-188872985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546822161	chr2:188872993-188872994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564113629	chr2:188873011-188873012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561814037	chr2:188873016-188873017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529222430	chr2:188873018-188873019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550616942	chr2:188873033-188873034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140701276	chr2:188873059-188873060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191935754	chr2:188873064-188873065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138570011	chr2:188873078-188873079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552694939	chr2:188873100-188873101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182567749	chr2:188873118-188873119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113824720	chr2:188873147-188873148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6434251	chr2:188873191-188873192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535207246	chr2:188873213-188873214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553564215	chr2:188873239-188873240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574947702	chr2:188873376-188873377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536116139	chr2:188873422-188873423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557370663	chr2:188873434-188873435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11674797	chr2:188873513-188873514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs578254579	chr2:188873546-188873547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149305066	chr2:188873598-188873599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116531624	chr2:188873611-188873612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs67081469	chr2:188873631-188873632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116004361	chr2:188873637-188873638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143701131	chr2:188873699-188873700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77095304	chr2:188873721-188873722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187180211	chr2:188873724-188873725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550804895	chr2:188873741-188873742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189680768	chr2:188873748-188873749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188872200-188872400	Enhancers	Aorta	Aorta
2	chr2:188872600-188874000	Weak transcription	Aorta	Aorta
3	chr2:188874000-188874200	Enhancers	Aorta	Aorta
4	chr2:188874200-188874600	Enhancers	Fetal Lung	lung
5	chr2:188875000-188875600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:188875200-188875600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:188875200-188875600	Enhancers	Ovary	ovary
8	chr2:188875600-188884400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:188879400-188879600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:188882000-188884400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:188882800-188884400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:188884200-188885000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:188884400-188884800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:188884400-188885200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:188884400-188885200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr2:188884400-188885200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:188884400-188885600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:188884400-188885800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr2:188884400-188885800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr2:188884600-188885200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
21	chr2:188884600-188885200	ZNF genes & repeats	Brain Substantia Nigra	brain
22	chr2:188884800-188897200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:188885200-188893200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:188885200-188897000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:188885800-188888600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:188887600-188888000	Enhancers	Fetal Lung	lung
27	chr2:188888000-188889200	Weak transcription	Fetal Lung	lung
28	chr2:188889200-188889400	Enhancers	Fetal Lung	lung
29	chr2:188890600-188891400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr2:188890800-188891000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:188891000-188892200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:188891200-188891600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr2:188891200-188893200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr2:188891800-188892000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:188892000-188893200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr2:188892000-188894200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:188892200-188893400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:188892400-188892600	Active TSS	Aorta	Aorta
39	chr2:188892400-188896400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:188892600-188894200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:188892600-188911400	Weak transcription	Aorta	Aorta
42	chr2:188892800-188893400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:188892800-188894000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:188893000-188893600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:188893000-188893800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:188893000-188893800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:188893000-188894000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr2:188893000-188894200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr2:188893000-188894200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:188893200-188893800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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