Variant report

Variant	esv20554
Chromosome Location	chr12:105950809-105951776
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	chr12:105949944..105952477-chr12:105966821..105969581,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf75-6	chr12:105946682-105953346	NONHSAT030458

Extended variants
information (count: 37 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141696706	chr12:105950830-105950831	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs59504344	chr12:105950837-105950838	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150535105	chr12:105950842-105950843	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs554192207	chr12:105950852-105950853	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs184078375	chr12:105950868-105950869	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs540146013	chr12:105950873-105950874	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs115584583	chr12:105950939-105950940	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs189044581	chr12:105950956-105950957	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs180840281	chr12:105950967-105950968	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs551759577	chr12:105950983-105950984	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs562529978	chr12:105951017-105951018	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs531071235	chr12:105951089-105951090	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs556061063	chr12:105951108-105951109	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs113859097	chr12:105951142-105951143	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs139591546	chr12:105951163-105951164	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs530066409	chr12:105951225-105951226	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs11112589	chr12:105951226-105951227	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs143335079	chr12:105951237-105951238	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs538947112	chr12:105951313-105951314	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs552763638	chr12:105951349-105951350	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs146274308	chr12:105951363-105951364	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs186072174	chr12:105951366-105951367	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs11112590	chr12:105951376-105951377	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545523910	chr12:105951386-105951387	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs574098233	chr12:105951432-105951433	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs34038151	chr12:105951438-105951439	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs572269104	chr12:105951470-105951471	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs375194379	chr12:105951474-105951475	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs190628846	chr12:105951509-105951510	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs577105232	chr12:105951593-105951594	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs545774123	chr12:105951600-105951601	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs11112591	chr12:105951620-105951621	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11112592	chr12:105951702-105951703	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs544718255	chr12:105951719-105951720	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs201795825	chr12:105951743-105951744	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs73184081	chr12:105951745-105951746	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs200310090	chr12:105951748-105951749	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105938800-105964600	Weak transcription	Aorta	Aorta
2	chr12:105945400-105955000	Weak transcription	HSMMtube	muscle
3	chr12:105948200-105954000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:105948200-105955800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:105948400-105955800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:105949600-105951800	Weak transcription	Left Ventricle	heart
7	chr12:105949600-105955000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:105949800-105955400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:105950000-105954600	Weak transcription	Hela-S3	cervix
10	chr12:105950000-105955400	Weak transcription	Right Atrium	heart
11	chr12:105950000-105956400	Strong transcription	HUVEC	blood vessel
12	chr12:105950200-105955400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:105951200-105955200	Weak transcription	HSMM	muscle
14	chr12:105951600-105951800	Enhancers	Adipose Nuclei	Adipose

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