Variant report

Variant	nsv438222
Chromosome Location	chr12:82956631-82968298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 262 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4882513	chr12:82956631-82956632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372771967	chr12:82956641-82956642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575480215	chr12:82956784-82956785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182655451	chr12:82956806-82956807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376015210	chr12:82956855-82956856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575435001	chr12:82956858-82956859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35000856	chr12:82956868-82956869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187075589	chr12:82956888-82956889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534298744	chr12:82956929-82956930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528132157	chr12:82956981-82956982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143887759	chr12:82957064-82957065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117210766	chr12:82957067-82957068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368342609	chr12:82957097-82957098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528940287	chr12:82957108-82957109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550227501	chr12:82957199-82957200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191571246	chr12:82957223-82957224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76437917	chr12:82957243-82957244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372034059	chr12:82957278-82957279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147283754	chr12:82957348-82957349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371855721	chr12:82957381-82957382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552090655	chr12:82957407-82957408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567048897	chr12:82957430-82957431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534226029	chr12:82957456-82957457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12315385	chr12:82957494-82957495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573941888	chr12:82957501-82957502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12315445	chr12:82957560-82957561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575520545	chr12:82957566-82957567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546013646	chr12:82957611-82957612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17776885	chr12:82957649-82957650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573032746	chr12:82957663-82957664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540259112	chr12:82957678-82957679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140907479	chr12:82957684-82957685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528831864	chr12:82957720-82957721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543910799	chr12:82957809-82957810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs36047581	chr12:82957814-82957815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562233983	chr12:82957819-82957820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533393729	chr12:82957837-82957838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11832758	chr12:82957844-82957845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs73155459	chr12:82957899-82957900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs527989312	chr12:82957961-82957962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188776571	chr12:82957965-82957966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115550603	chr12:82958004-82958005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150884606	chr12:82958015-82958016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556738292	chr12:82958023-82958024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111402959	chr12:82958101-82958102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193293068	chr12:82958103-82958104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185542232	chr12:82958132-82958133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189557641	chr12:82958146-82958147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180797688	chr12:82958157-82958158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555591289	chr12:82958175-82958176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82945000-82958400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:82958000-82958200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:82958200-82958600	ZNF genes & repeats	Colon Smooth Muscle	Colon
4	chr12:82958400-82958600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
5	chr12:82958400-82958600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr12:82958400-82958600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:82958400-82958600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
8	chr12:82958400-82958600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
9	chr12:82958400-82958600	ZNF genes & repeats	Colonic Mucosa	Colon
10	chr12:82958400-82958600	ZNF genes & repeats	Esophagus	oesophagus
11	chr12:82958400-82958600	Bivalent/Poised TSS	Psoas Muscle	Psoas
12	chr12:82958400-82958800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:82958400-82958800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:82958400-82958800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:82958400-82958800	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:82958400-82958800	ZNF genes & repeats	Gastric	stomach
17	chr12:82958400-82958800	ZNF genes & repeats	Spleen	Spleen
18	chr12:82958600-82958800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:82958600-82958800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
20	chr12:82958800-82959200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:82959400-82960800	Enhancers	Stomach Mucosa	stomach
22	chr12:82959600-82961200	Enhancers	HUVEC	blood vessel
23	chr12:82959800-82960400	Enhancers	Liver	Liver
24	chr12:82959800-82960600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:82960400-82961600	Flanking Active TSS	Liver	Liver
26	chr12:82961600-82964000	Enhancers	Liver	Liver
27	chr12:82968000-82968600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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