Variant report

Variant	nsv832456
Chromosome Location	chr12:73620419-73775946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:73655588..73656464-chr16:85628476..85629004,2	MCF-7	breast:
2	chr12:73655095..73657152-chr20:52197004..52199032,2	MCF-7	breast:
3	chr12:73620754..73622462-chr12:73626196..73628028,2	K562	blood:
4	chr12:73620754..73622462-chr12:73626196..73628028,2	K562	blood:

(count:2 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1974 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1974 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190158313	chr12:73620419-73620420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570089533	chr12:73620422-73620423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542349506	chr12:73620445-73620446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537062713	chr12:73620508-73620509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528920841	chr12:73620511-73620512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115323091	chr12:73620522-73620523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34468343	chr12:73620536-73620537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs534901413	chr12:73620539-73620540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114244203	chr12:73620616-73620617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577908704	chr12:73620635-73620636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147244743	chr12:73620641-73620642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557108147	chr12:73620681-73620682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575272929	chr12:73620700-73620701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114786153	chr12:73620721-73620722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115448157	chr12:73620726-73620727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183345282	chr12:73620734-73620735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376032077	chr12:73620790-73620791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111455813	chr12:73620792-73620793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140589295	chr12:73620793-73620794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10681730	chr12:73620795-73620796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199826769	chr12:73620796-73620797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200751732	chr12:73620797-73620798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201680909	chr12:73620798-73620799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189051669	chr12:73622032-73622033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572387018	chr12:73622041-73622042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74105727	chr12:73622048-73622049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs1913933	chr12:73622101-73622102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569644007	chr12:73622110-73622111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575798094	chr12:73622166-73622167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376333850	chr12:73622210-73622211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192674520	chr12:73622254-73622255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56281792	chr12:73622270-73622271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs55854868	chr12:73622335-73622336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370415473	chr12:73622337-73622338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565270849	chr12:73622346-73622347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117007459	chr12:73622392-73622393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550856635	chr12:73622498-73622499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569018106	chr12:73622550-73622551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182844457	chr12:73622569-73622570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149926487	chr12:73622574-73622575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573739500	chr12:73622599-73622600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566255919	chr12:73622636-73622637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554659540	chr12:73622656-73622657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533624916	chr12:73622659-73622660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558168952	chr12:73622674-73622675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187475325	chr12:73622692-73622693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112664453	chr12:73622719-73622720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377743855	chr12:73622762-73622763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55914650	chr12:73622797-73622798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs74500129	chr12:73622805-73622806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73619800-73620600	Enhancers	Liver	Liver
2	chr12:73620400-73620800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:73622000-73625400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:73625400-73625600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:73625800-73626000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:73626000-73626200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:73626200-73628200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:73628200-73628600	ZNF genes & repeats	Liver	Liver
9	chr12:73628200-73628800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:73628800-73629600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:73629200-73629600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:73637200-73637600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:73637400-73638000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:73637800-73638200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr12:73656000-73657800	Enhancers	Liver	Liver
16	chr12:73656800-73657200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:73660200-73660400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr12:73668400-73669200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:73668600-73669000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:73668800-73669000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr12:73669000-73678200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr12:73669600-73670600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:73670400-73670600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:73671200-73672600	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr12:73671600-73672800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:73695000-73695400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:73695400-73695600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:73695600-73696000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:73696000-73696800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr12:73701200-73701800	Enhancers	Liver	Liver
31	chr12:73701200-73702000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr12:73701800-73702000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:73701800-73702000	Flanking Active TSS	Liver	Liver
34	chr12:73701800-73702200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:73701800-73702200	Enhancers	Brain Substantia Nigra	brain
36	chr12:73701800-73702200	Active TSS	Stomach Smooth Muscle	stomach
37	chr12:73702000-73702200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:73702000-73702400	Active TSS	Liver	Liver
39	chr12:73710600-73710800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:73711000-73711600	Enhancers	Rectal Smooth Muscle	rectum
41	chr12:73711000-73711600	Enhancers	Stomach Smooth Muscle	stomach
42	chr12:73711000-73711800	Enhancers	Colon Smooth Muscle	Colon
43	chr12:73713000-73713200	Enhancers	Pancreas	Pancrea
44	chr12:73714800-73715200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:73714800-73715600	Enhancers	Pancreas	Pancrea
46	chr12:73731400-73732000	Enhancers	Liver	Liver
47	chr12:73732000-73734000	Weak transcription	Liver	Liver
48	chr12:73734000-73735400	Enhancers	Liver	Liver
49	chr12:73735400-73735600	Flanking Active TSS	Liver	Liver
50	chr12:73735600-73735800	Enhancers	Liver	Liver

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