Variant report

Variant	esv3346411
Chromosome Location	chr12:73664324-73719173
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC2-4	chr12:73710339-73710434	ENSG00000258109
2	lnc-KCNC2-4	chr12:73711509-73711586	ENSG00000258109

Variant related genes	Relation type
PPM1H	miRNA target sites
SOD2	miRNA target sites

Extended variants
information (count: 563 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554580808	chr12:73668417-73668418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572096525	chr12:73668445-73668446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79208159	chr12:73668480-73668481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542975328	chr12:73668504-73668505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559797533	chr12:73668511-73668512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187675868	chr12:73668590-73668591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111846479	chr12:73668611-73668612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146093333	chr12:73668625-73668626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565416301	chr12:73668653-73668654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368545277	chr12:73668657-73668658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192374295	chr12:73668662-73668663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11613527	chr12:73668670-73668671	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs534643566	chr12:73668683-73668684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557455830	chr12:73668698-73668699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530342590	chr12:73668703-73668704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548922463	chr12:73668718-73668719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371736493	chr12:73668754-73668755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577708693	chr12:73668763-73668764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375037049	chr12:73668791-73668792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77316538	chr12:73668808-73668809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534356902	chr12:73668836-73668837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551045673	chr12:73668850-73668851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571039819	chr12:73668947-73668948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184919202	chr12:73668964-73668965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556894546	chr12:73668992-73668993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573839917	chr12:73669003-73669004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554056084	chr12:73669081-73669082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536161669	chr12:73669123-73669124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553353161	chr12:73669134-73669135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573263054	chr12:73669189-73669190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558809291	chr12:73669191-73669192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545451934	chr12:73669278-73669279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77692635	chr12:73669332-73669333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189626541	chr12:73669333-73669334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149724072	chr12:73669336-73669337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540091806	chr12:73669347-73669348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181554005	chr12:73669349-73669350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577382932	chr12:73669400-73669401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561332132	chr12:73669473-73669474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57333489	chr12:73669509-73669510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546880440	chr12:73669517-73669518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78267920	chr12:73669534-73669535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144587606	chr12:73669567-73669568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550985978	chr12:73669616-73669617	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs571289244	chr12:73669632-73669633	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs185303328	chr12:73669704-73669705	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs148489315	chr12:73669731-73669732	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs569323734	chr12:73669741-73669742	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs61395547	chr12:73669768-73669769	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs11836321	chr12:73669773-73669774	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73668400-73669200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:73668600-73669000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr12:73668800-73669000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr12:73669000-73678200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:73669600-73670600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:73670400-73670600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:73671200-73672600	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr12:73671600-73672800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:73695000-73695400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:73695400-73695600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:73695600-73696000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:73696000-73696800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:73701200-73701800	Enhancers	Liver	Liver
14	chr12:73701200-73702000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr12:73701800-73702000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:73701800-73702000	Flanking Active TSS	Liver	Liver
17	chr12:73701800-73702200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:73701800-73702200	Enhancers	Brain Substantia Nigra	brain
19	chr12:73701800-73702200	Active TSS	Stomach Smooth Muscle	stomach
20	chr12:73702000-73702200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:73702000-73702400	Active TSS	Liver	Liver
22	chr12:73710600-73710800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:73711000-73711600	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:73711000-73711600	Enhancers	Stomach Smooth Muscle	stomach
25	chr12:73711000-73711800	Enhancers	Colon Smooth Muscle	Colon
26	chr12:73713000-73713200	Enhancers	Pancreas	Pancrea
27	chr12:73714800-73715200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:73714800-73715600	Enhancers	Pancreas	Pancrea

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