Variant report

Variant	esv18514
Chromosome Location	chr12:105949857-105951376
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: 70 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559885211	chr12:105949907-105949908	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs560819376	chr12:105949931-105949932	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs529852886	chr12:105949934-105949935	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs546425180	chr12:105949954-105949955	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs73184077	chr12:105949999-105950000	Weak transcription Enhancers Bivalent Enhancer Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146754190	chr12:105950005-105950006	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs529475672	chr12:105950010-105950011	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs73184078	chr12:105950017-105950018	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs370142013	chr12:105950034-105950035	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs68053161	chr12:105950035-105950036	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533227468	chr12:105950061-105950062	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs17037312	chr12:105950085-105950086	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557709930	chr12:105950098-105950099	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs553524722	chr12:105950159-105950160	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs74638875	chr12:105950161-105950162	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs140809400	chr12:105950176-105950177	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs10584117	chr12:105950177-105950178	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs113222929	chr12:105950193-105950194	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs7969390	chr12:105950218-105950219	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146824047	chr12:105950252-105950253	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs573373147	chr12:105950263-105950264	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs7969416	chr12:105950270-105950271	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs7304664	chr12:105950274-105950275	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7969421	chr12:105950285-105950286	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7956435	chr12:105950316-105950317	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560529386	chr12:105950360-105950361	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs370864730	chr12:105950399-105950400	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs7969556	chr12:105950405-105950406	Weak transcription Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs61940370	chr12:105950411-105950412	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs528499531	chr12:105950427-105950428	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs139295217	chr12:105950428-105950429	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs142708791	chr12:105950452-105950453	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs147343276	chr12:105950472-105950473	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs571689200	chr12:105950473-105950474	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs530946227	chr12:105950511-105950512	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs571368964	chr12:105950551-105950552	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs367837024	chr12:105950572-105950573	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs191503103	chr12:105950573-105950574	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs566259145	chr12:105950585-105950586	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs371377224	chr12:105950598-105950599	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs147977337	chr12:105950599-105950600	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs553586920	chr12:105950600-105950601	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs538697596	chr12:105950699-105950700	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs377257280	chr12:105950707-105950708	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs566955400	chr12:105950729-105950730	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs556771997	chr12:105950795-105950796	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs17041546	chr12:105950801-105950802	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs141696706	chr12:105950830-105950831	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs59504344	chr12:105950837-105950838	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150535105	chr12:105950842-105950843	Weak transcription 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:25 , 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	chr12:105947200-105950000	Enhancers	Hela-S3	cervix
4	chr12:105948200-105954000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:105948200-105955800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:105948400-105950000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:105948400-105955800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:105949000-105950200	Enhancers	A549	lung
9	chr12:105949200-105950000	Genic enhancers	HUVEC	blood vessel
10	chr12:105949400-105950000	Enhancers	Right Atrium	heart
11	chr12:105949400-105950000	Enhancers	Right Ventricle	heart
12	chr12:105949600-105950000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr12:105949600-105950000	Enhancers	Pancreas	Pancrea
14	chr12:105949600-105950000	Enhancers	HepG2	liver
15	chr12:105949600-105951800	Weak transcription	Left Ventricle	heart
16	chr12:105949600-105955000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:105949800-105950000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:105949800-105950200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:105949800-105955400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:105950000-105954600	Weak transcription	Hela-S3	cervix
21	chr12:105950000-105955400	Weak transcription	Right Atrium	heart
22	chr12:105950000-105956400	Strong transcription	HUVEC	blood vessel
23	chr12:105950200-105955400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:105950400-105950600	Enhancers	Lung	lung
25	chr12:105951200-105955200	Weak transcription	HSMM	muscle

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