Variant report

Variant	nsv559373
Chromosome Location	chr12:73685326-73737815
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: 459 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:459 , 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	rs74902857	chr12:73695052-73695053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187440477	chr12:73695105-73695106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568881513	chr12:73695118-73695119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77411729	chr12:73695211-73695212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76688685	chr12:73695252-73695253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568142005	chr12:73695255-73695256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191413803	chr12:73695264-73695265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540748592	chr12:73695284-73695285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553607647	chr12:73695305-73695306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576728188	chr12:73695328-73695329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35495846	chr12:73695331-73695332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376594411	chr12:73695381-73695382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7957273	chr12:73695385-73695386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs541936466	chr12:73695414-73695415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75802719	chr12:73695469-73695470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527846993	chr12:73695482-73695483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs58361577	chr12:73695536-73695537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541654877	chr12:73695543-73695544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556606106	chr12:73695584-73695585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182452959	chr12:73695586-73695587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533664410	chr12:73695588-73695589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112087678	chr12:73695598-73695599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7970779	chr12:73695613-73695614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531368357	chr12:73695642-73695643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547950436	chr12:73695658-73695659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568165504	chr12:73695661-73695662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7970799	chr12:73695663-73695664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553546218	chr12:73695672-73695673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538442102	chr12:73695695-73695696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35485119	chr12:73695696-73695697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398044223	chr12:73695703-73695704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539329873	chr12:73695704-73695705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370761425	chr12:73695705-73695706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80184190	chr12:73695719-73695720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67440802	chr12:73695720-73695721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562861741	chr12:73695766-73695767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576329778	chr12:73695772-73695773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542222530	chr12:73695791-73695792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576692124	chr12:73695807-73695808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555537601	chr12:73695828-73695829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572576045	chr12:73695831-73695832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187835951	chr12:73695860-73695861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564660637	chr12:73695864-73695865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192607852	chr12:73695892-73695893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544109254	chr12:73695897-73695898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146202871	chr12:73695930-73695931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185064513	chr12:73695946-73695947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545667220	chr12:73695951-73695952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190308587	chr12:73695954-73695955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561573981	chr12:73695955-73695956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73695000-73695400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:73695400-73695600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:73695600-73696000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:73696000-73696800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:73701200-73701800	Enhancers	Liver	Liver
6	chr12:73701200-73702000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr12:73701800-73702000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:73701800-73702000	Flanking Active TSS	Liver	Liver
9	chr12:73701800-73702200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:73701800-73702200	Enhancers	Brain Substantia Nigra	brain
11	chr12:73701800-73702200	Active TSS	Stomach Smooth Muscle	stomach
12	chr12:73702000-73702200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:73702000-73702400	Active TSS	Liver	Liver
14	chr12:73710600-73710800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:73711000-73711600	Enhancers	Rectal Smooth Muscle	rectum
16	chr12:73711000-73711600	Enhancers	Stomach Smooth Muscle	stomach
17	chr12:73711000-73711800	Enhancers	Colon Smooth Muscle	Colon
18	chr12:73713000-73713200	Enhancers	Pancreas	Pancrea
19	chr12:73714800-73715200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:73714800-73715600	Enhancers	Pancreas	Pancrea
21	chr12:73731400-73732000	Enhancers	Liver	Liver
22	chr12:73732000-73734000	Weak transcription	Liver	Liver
23	chr12:73734000-73735400	Enhancers	Liver	Liver
24	chr12:73735400-73735600	Flanking Active TSS	Liver	Liver
25	chr12:73735600-73735800	Enhancers	Liver	Liver
26	chr12:73735800-73736000	Flanking Active TSS	Liver	Liver
27	chr12:73736000-73736600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr12:73736000-73737000	Enhancers	Liver	Liver
29	chr12:73737000-73742000	Weak transcription	Liver	Liver

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