Variant report

Variant	nsv899277
Chromosome Location	chr12:73773886-73875790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:73778155..73780613-chr12:73781477..73783097,2	MCF-7	breast:
2	chr12:73778155..73780613-chr12:73781477..73783097,2	MCF-7	breast:
3	chr12:73777376..73778236-chr12:74310356..74311136,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNC2-4	chr12:73864576-73864610	ENSG00000258109

Variant related genes	Relation type
PPP6C	miRNA target sites

Extended variants
information (count: 1209 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1209 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11179628	chr12:73773886-73773887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575047998	chr12:73773904-73773905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539111499	chr12:73773936-73773937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543517692	chr12:73773939-73773940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554127166	chr12:73773957-73773958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575785333	chr12:73773965-73773966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188814472	chr12:73773975-73773976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150168817	chr12:73773989-73773990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541793077	chr12:73774025-73774026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200727846	chr12:73774038-73774039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180742363	chr12:73774052-73774053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563483113	chr12:73774068-73774069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185405152	chr12:73774092-73774093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572551798	chr12:73774110-73774111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544696545	chr12:73774149-73774150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116364509	chr12:73774162-73774163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192096129	chr12:73774165-73774166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530686580	chr12:73774172-73774173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550526649	chr12:73774175-73774176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561199298	chr12:73774219-73774220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529998569	chr12:73774248-73774249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546941921	chr12:73774301-73774302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11179629	chr12:73774312-73774313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372353716	chr12:73774322-73774323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138361681	chr12:73774405-73774406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374136633	chr12:73774438-73774439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569254795	chr12:73774439-73774440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538405067	chr12:73774568-73774569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554849501	chr12:73774678-73774679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574720901	chr12:73774708-73774709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368317635	chr12:73774711-73774712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11834659	chr12:73774718-73774719	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528239180	chr12:73774750-73774751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60808400	chr12:73774768-73774769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72090485	chr12:73774769-73774770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11834662	chr12:73774772-73774773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544610313	chr12:73774813-73774814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545906633	chr12:73774817-73774818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575257142	chr12:73774838-73774839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544326554	chr12:73774851-73774852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375286129	chr12:73774860-73774861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559684027	chr12:73774864-73774865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528800565	chr12:73774906-73774907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560895019	chr12:73774907-73774908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79542993	chr12:73774916-73774917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34169253	chr12:73774918-73774919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59311935	chr12:73774934-73774935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145890568	chr12:73774937-73774938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529960470	chr12:73774983-73774984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183921092	chr12:73775049-73775050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73771800-73778600	Weak transcription	Pancreas	Pancrea
2	chr12:73774400-73774800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr12:73774800-73777200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:73775400-73775600	Enhancers	Fetal Kidney	kidney
5	chr12:73775600-73777600	Weak transcription	Fetal Kidney	kidney
6	chr12:73776200-73778600	Enhancers	Liver	Liver
7	chr12:73776800-73778600	Enhancers	Duodenum Mucosa	Duodenum
8	chr12:73777000-73777400	Enhancers	Stomach Mucosa	stomach
9	chr12:73777000-73779400	Enhancers	Fetal Intestine Small	intestine
10	chr12:73777000-73779600	Enhancers	Fetal Intestine Large	intestine
11	chr12:73777200-73777400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr12:73777200-73778200	Enhancers	Hela-S3	cervix
13	chr12:73777200-73779000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:73777400-73778000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr12:73777400-73778200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:73777400-73778600	Weak transcription	Stomach Mucosa	stomach
17	chr12:73777600-73779400	Enhancers	Fetal Kidney	kidney
18	chr12:73778000-73778400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:73778200-73779000	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr12:73778400-73779000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr12:73778600-73779000	Flanking Active TSS	Liver	Liver
22	chr12:73778600-73779000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr12:73778600-73779000	Enhancers	Pancreas	Pancrea
24	chr12:73778600-73779000	Enhancers	Small Intestine	intestine
25	chr12:73778600-73779000	Enhancers	Stomach Mucosa	stomach
26	chr12:73779000-73779400	Enhancers	Liver	Liver
27	chr12:73779000-73779400	Enhancers	Duodenum Mucosa	Duodenum
28	chr12:73779000-73784200	Weak transcription	Stomach Mucosa	stomach
29	chr12:73779400-73784400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:73779600-73783600	Weak transcription	Fetal Intestine Large	intestine
31	chr12:73783600-73784600	Enhancers	Fetal Intestine Large	intestine
32	chr12:73783800-73784800	Enhancers	Fetal Intestine Small	intestine
33	chr12:73784200-73784800	Enhancers	Stomach Mucosa	stomach
34	chr12:73784400-73784600	Enhancers	Duodenum Mucosa	Duodenum
35	chr12:73806400-73807800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:73806800-73808200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:73807800-73808000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:73808600-73810000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:73815200-73815400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr12:73815200-73815600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:73815200-73816000	Enhancers	HMEC	breast
42	chr12:73815400-73815600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr12:73815400-73816000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:73815400-73816200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:73815600-73815800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:73815600-73816000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:73815600-73816000	Active TSS	Duodenum Mucosa	Duodenum
48	chr12:73815600-73816200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:73815800-73816000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:73815800-73816000	Enhancers	Pancreatic Islets	Pancreatic Islet

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