Variant report

Variant	nsv875605
Chromosome Location	chr2:189017499-189080087
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189019149..189021325-chr2:189022455..189024861,2	K562	blood:
2	chr2:189074004..189076105-chr2:189077758..189079351,2	K562	blood:
3	chr2:189016643..189020649-chr2:189022455..189025667,3	K562	blood:
4	chr2:189060891..189062754-chr2:189063938..189066801,3	K562	blood:
5	chr2:189066882..189068892-chr2:189106481..189108837,2	K562	blood:
6	chr2:189019149..189021325-chr2:189022455..189024861,2	K562	blood:
7	chr2:189060891..189062754-chr2:189063938..189066801,3	K562	blood:
8	chr2:189028049..189028737-chr2:189234214..189234730,2	K562	blood:
9	chr2:189016643..189020649-chr2:189022455..189025667,3	K562	blood:
10	chr2:189074004..189076105-chr2:189077758..189079351,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRC1-2	chr2:189030481-189030635	ENSG00000231689

No data

Extended variants
information (count: 1981 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1981 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13015608	chr2:189017499-189017500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140304256	chr2:189017511-189017512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551694630	chr2:189017570-189017571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73977986	chr2:189017574-189017575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541412652	chr2:189017575-189017576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563105488	chr2:189017646-189017647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575225980	chr2:189017702-189017703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545999668	chr2:189017813-189017814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564087315	chr2:189017819-189017820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114002250	chr2:189017857-189017858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141125342	chr2:189017926-189017927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561958156	chr2:189017932-189017933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188915256	chr2:189017941-189017942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182078834	chr2:189017942-189017943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544071458	chr2:189018038-189018039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570155064	chr2:189018046-189018047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150717604	chr2:189018051-189018052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552745322	chr2:189018061-189018062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570663778	chr2:189018066-189018067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530625071	chr2:189018177-189018178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186280519	chr2:189018186-189018187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553292792	chr2:189018195-189018196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191279969	chr2:189018281-189018282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535459798	chr2:189018304-189018305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556653299	chr2:189018345-189018346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575311089	chr2:189018352-189018353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545535116	chr2:189018374-189018375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564207473	chr2:189018381-189018382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573753021	chr2:189018438-189018439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573118224	chr2:189018457-189018458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183089724	chr2:189018468-189018469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561992415	chr2:189018477-189018478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560151225	chr2:189018478-189018479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542872120	chr2:189018489-189018490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139220798	chr2:189018527-189018528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74960253	chr2:189018575-189018576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185122774	chr2:189018587-189018588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531035925	chr2:189018603-189018604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189881300	chr2:189018608-189018609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183336763	chr2:189018633-189018634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534918567	chr2:189018634-189018635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145014222	chr2:189018641-189018642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568434275	chr2:189018642-189018643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535738080	chr2:189018683-189018684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556921804	chr2:189018686-189018687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568808497	chr2:189018698-189018699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539412061	chr2:189018699-189018700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546245424	chr2:189018731-189018732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371115891	chr2:189018745-189018746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557924025	chr2:189018761-189018762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189004600-189026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189011000-189021000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:189021000-189025200	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr2:189022600-189024400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:189022800-189023400	Enhancers	A549	lung
6	chr2:189022800-189023800	Enhancers	NHDF-Ad	bronchial
7	chr2:189022800-189024600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:189023000-189023800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:189023200-189023600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:189023200-189023600	Enhancers	Ovary	ovary
11	chr2:189023400-189023800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:189024000-189024600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:189024600-189025800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:189025200-189026600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
15	chr2:189025800-189030800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:189026000-189029400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:189026600-189028000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr2:189028000-189028600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
19	chr2:189028600-189031200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr2:189029000-189030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:189029400-189032400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:189030400-189030600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:189030400-189031000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:189030600-189039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:189030800-189032000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:189031200-189032000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:189032000-189032400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:189032000-189033800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:189032000-189034000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:189032200-189032400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:189032200-189034000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:189032400-189032800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:189032400-189033200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:189032800-189033600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:189033000-189033400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr2:189033200-189033600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr2:189033200-189033600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:189033600-189034800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:189033600-189035000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:189033800-189035000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:189034000-189035000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:189034200-189050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:189034800-189035000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:189035000-189035400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr2:189035000-189035800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:189035000-189036000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:189035000-189036400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:189035400-189039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr2:189035800-189038000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:189036000-189038000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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