Variant report

Variant	nsv521460
Chromosome Location	chr2:189025977-189046900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189028049..189028737-chr2:189234214..189234730,2	K562	blood:

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

Extended variants
information (count: 838 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:838 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2119090	chr2:189025977-189025978	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568720324	chr2:189025988-189025989	Active TSS Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs149445995	chr2:189026000-189026001	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs77535155	chr2:189026057-189026058	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs568983840	chr2:189026100-189026101	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs539493156	chr2:189026107-189026108	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs188832739	chr2:189026138-189026139	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs181303161	chr2:189026195-189026196	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs552718059	chr2:189026209-189026210	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs368715987	chr2:189026216-189026217	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs139578871	chr2:189026233-189026234	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs140985595	chr2:189026240-189026241	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs145939012	chr2:189026244-189026245	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs138781063	chr2:189026247-189026248	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs573854387	chr2:189026271-189026272	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs116733706	chr2:189026277-189026278	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs563301165	chr2:189026282-189026283	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs371796453	chr2:189026311-189026312	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs545938393	chr2:189026361-189026362	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs564229931	chr2:189026402-189026403	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs528693003	chr2:189026489-189026490	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs547149975	chr2:189026512-189026513	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs141835292	chr2:189026525-189026526	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs146251660	chr2:189026584-189026585	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs550308360	chr2:189026590-189026591	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs148447661	chr2:189026599-189026600	Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs142878467	chr2:189026618-189026619	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559847524	chr2:189026627-189026628	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374848450	chr2:189026662-189026663	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10931328	chr2:189026684-189026685	Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549032416	chr2:189026754-189026755	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533772462	chr2:189026769-189026770	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527724827	chr2:189026770-189026771	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185120685	chr2:189026782-189026783	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150630421	chr2:189026798-189026799	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371818690	chr2:189026807-189026808	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575275496	chr2:189026981-189026982	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545776365	chr2:189026993-189026994	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375807741	chr2:189027000-189027001	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372644627	chr2:189027027-189027028	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564268649	chr2:189027031-189027032	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369072119	chr2:189027049-189027050	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139693452	chr2:189027080-189027081	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554533142	chr2:189027083-189027084	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540480147	chr2:189027087-189027088	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116527322	chr2:189027191-189027192	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573075336	chr2:189027195-189027196	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529463019	chr2:189027205-189027206	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551338555	chr2:189027242-189027243	Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11687382	chr2:189027247-189027248	Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189004600-189026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189025200-189026600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
3	chr2:189025800-189030800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:189026000-189029400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:189026600-189028000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr2:189028000-189028600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
7	chr2:189028600-189031200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:189029000-189030400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:189029400-189032400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:189030400-189030600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:189030400-189031000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:189030600-189039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:189030800-189032000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:189031200-189032000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:189032000-189032400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:189032000-189033800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:189032000-189034000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:189032200-189032400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:189032200-189034000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:189032400-189032800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:189032400-189033200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:189032800-189033600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:189033000-189033400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:189033200-189033600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:189033200-189033600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:189033600-189034800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:189033600-189035000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:189033800-189035000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:189034000-189035000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:189034200-189050000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:189034800-189035000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:189035000-189035400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:189035000-189035800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:189035000-189036000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:189035000-189036400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:189035400-189039400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:189035800-189038000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:189036000-189038000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:189036400-189037200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:189037200-189037600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:189037600-189039400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:189038000-189038400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:189038000-189039600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr2:189038400-189042200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:189039200-189039400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:189039400-189039600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:189039400-189039600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:189041400-189042400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:189041800-189042400	Active TSS	Aorta	Aorta
50	chr2:189042000-189042800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links