Variant report

Variant	nsv559370
Chromosome Location	chr12:73281466-73377097
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:13)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:73329562..73331929-chr12:73334253..73335865,2	MCF-7	breast:
2	chr12:73360278..73363130-chr12:73365904..73367534,2	K562	blood:
3	chr12:73276124..73278278-chr12:73280088..73282013,2	K562	blood:
4	chr12:73279960..73282832-chr12:73288146..73290237,2	K562	blood:
5	chr12:73280330..73282647-chr12:73282776..73285288,2	K562	blood:
6	chr12:73279777..73282647-chr12:73282776..73285810,4	K562	blood:
7	chr12:73279777..73282647-chr12:73282776..73285810,4	K562	blood:
8	chr12:73360278..73363130-chr12:73365904..73367534,2	K562	blood:
9	chr12:73279960..73282832-chr12:73288146..73290237,2	K562	blood:
10	chr12:73329562..73331929-chr12:73334253..73335865,2	MCF-7	breast:
11	chr12:73361630..73364620-chr12:73364832..73367404,2	K562	blood:
12	chr12:73361630..73364620-chr12:73364832..73367404,2	K562	blood:
13	chr12:73280330..73282647-chr12:73282776..73285288,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRHDE-1	chr12:73352845-73352944	XLOC_009803
2	lnc-TRHDE-1	chr12:73318544-73318675	XLOC_009803
3	lnc-TRHDE-1	chr12:73367333-73367380	XLOC_009803
4	lnc-TRHDE-1	chr12:73362033-73362097	XLOC_009803
5	lnc-TRHDE-1	chr12:73362420-73362470	XLOC_009803

No data

Variant related genes	Relation type
UBE2W	miRNA target sites
UBE2Q1	miRNA target sites
UBE2R2	miRNA target sites

Extended variants
information (count: 458 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11179446	chr12:73281466-73281467	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs61935270	chr12:73281502-73281503	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs186160161	chr12:73281509-73281510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189749864	chr12:73281519-73281520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554296001	chr12:73281525-73281526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11179447	chr12:73281534-73281535	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535000563	chr12:73281561-73281562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11179448	chr12:73281594-73281595	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs529857302	chr12:73281647-73281648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182792926	chr12:73281649-73281650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11179449	chr12:73281651-73281652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs185660333	chr12:73281687-73281688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77663253	chr12:73281690-73281691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149354684	chr12:73281706-73281707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561150817	chr12:73281712-73281713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190829199	chr12:73281755-73281756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61935271	chr12:73281756-73281757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540535578	chr12:73281759-73281760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565223404	chr12:73281827-73281828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558199611	chr12:73281836-73281837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11179450	chr12:73281841-73281842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370940418	chr12:73281874-73281875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368161777	chr12:73281887-73281888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183700142	chr12:73281919-73281920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144721158	chr12:73281932-73281933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540608061	chr12:73281975-73281976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61935272	chr12:73281976-73281977	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148546392	chr12:73281990-73281991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533500189	chr12:73282016-73282017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577461025	chr12:73282068-73282069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546512349	chr12:73282070-73282071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188223502	chr12:73282126-73282127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574379135	chr12:73282131-73282132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557302623	chr12:73282139-73282140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575767386	chr12:73282191-73282192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542771578	chr12:73282193-73282194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80333050	chr12:73282247-73282248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543313039	chr12:73282259-73282260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573369844	chr12:73282279-73282280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540669422	chr12:73282287-73282288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7959862	chr12:73282304-73282305	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115616527	chr12:73282309-73282310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73334726	chr12:73282353-73282354	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs193271858	chr12:73282368-73282369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7973094	chr12:73282405-73282406	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547984259	chr12:73282408-73282409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183738439	chr12:73282427-73282428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527376224	chr12:73282476-73282477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540821862	chr12:73282556-73282557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551790471	chr12:73282576-73282577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73280000-73282600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:73281400-73285200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:73282000-73285400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:73282200-73285200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:73282200-73285200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:73282400-73285200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:73282400-73285200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr12:73282400-73285400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:73282600-73283400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:73282600-73285200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:73282600-73285200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:73282600-73285400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:73283200-73284000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:73283200-73285200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr12:73283600-73283800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr12:73283600-73283800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:73283800-73284800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:73283800-73284800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:73284000-73284400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:73284400-73284800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:73284800-73285200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:73284800-73285200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:73288200-73288800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:73295400-73295800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:73317400-73317800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:73317400-73318200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:73317400-73318400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:73336000-73338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:73337200-73339800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:73351600-73352400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:73375200-73375400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:73375200-73376800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:73375400-73376000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:73376000-73376600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:73376800-73394200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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