Variant report

Variant	nsv559666
Chromosome Location	chr12:86120810-86160277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1003 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1003 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184475989	chr12:86126242-86126243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79295812	chr12:86126293-86126294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527330436	chr12:86126330-86126331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190213867	chr12:86126407-86126408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7298784	chr12:86126417-86126418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181916322	chr12:86126460-86126461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142579776	chr12:86126500-86126501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs71076144	chr12:86126544-86126545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs63421862	chr12:86126545-86126546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72112962	chr12:86126546-86126547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184238875	chr12:86126564-86126565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570003548	chr12:86126612-86126613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377410810	chr12:86126724-86126725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144750871	chr12:86126733-86126734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558468711	chr12:86126792-86126793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7296027	chr12:86126806-86126807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148274832	chr12:86126868-86126869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555299156	chr12:86126916-86126917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12307752	chr12:86126921-86126922	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189042027	chr12:86126932-86126933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77870555	chr12:86126983-86126984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368527295	chr12:86127021-86127022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201435163	chr12:86127036-86127037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555622849	chr12:86127046-86127047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533001790	chr12:86127069-86127070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141337229	chr12:86127072-86127073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560402022	chr12:86127090-86127091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527553891	chr12:86127094-86127095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548979553	chr12:86127101-86127102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111437107	chr12:86127116-86127117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531312720	chr12:86127128-86127129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373545206	chr12:86127180-86127181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567645554	chr12:86127239-86127240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181168190	chr12:86127242-86127243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540072114	chr12:86127249-86127250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78438792	chr12:86127258-86127259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551635654	chr12:86127294-86127295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7299727	chr12:86127322-86127323	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185662804	chr12:86127337-86127338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534235716	chr12:86127399-86127400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555362170	chr12:86127426-86127427	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150836317	chr12:86127471-86127472	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573722779	chr12:86127480-86127481	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537841634	chr12:86127481-86127482	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556287358	chr12:86127482-86127483	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367768754	chr12:86127508-86127509	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373831680	chr12:86127519-86127520	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578002071	chr12:86127525-86127526	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139240661	chr12:86127538-86127539	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191434423	chr12:86127580-86127581	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Acute myeloid leukemia	21251322	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
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86126200-86128000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:86126600-86127200	Enhancers	Fetal Intestine Large	intestine
3	chr12:86126600-86128200	Enhancers	Fetal Intestine Small	intestine
4	chr12:86126800-86127400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:86126800-86128200	Enhancers	Fetal Lung	lung
6	chr12:86127000-86127600	Enhancers	HUVEC	blood vessel
7	chr12:86127200-86127600	Weak transcription	Fetal Intestine Large	intestine
8	chr12:86127200-86128200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:86127200-86128200	Enhancers	NH-A	brain
10	chr12:86127200-86128200	Enhancers	NHDF-Ad	bronchial
11	chr12:86127200-86128400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:86127400-86128000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:86127400-86128000	Enhancers	Adipose Nuclei	Adipose
14	chr12:86127400-86128200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:86127400-86128200	Enhancers	Osteobl	bone
16	chr12:86127600-86128400	Enhancers	Fetal Intestine Large	intestine
17	chr12:86128000-86129000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:86128200-86129200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:86129000-86129400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:86129200-86133600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:86133600-86135600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:86134000-86135800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:86134000-86136000	Enhancers	Adipose Nuclei	Adipose
24	chr12:86134200-86134400	Enhancers	NHDF-Ad	bronchial
25	chr12:86134200-86134600	Enhancers	Fetal Brain Female	brain
26	chr12:86134800-86135200	Enhancers	NHDF-Ad	bronchial
27	chr12:86134800-86135600	Enhancers	HUVEC	blood vessel
28	chr12:86141400-86141600	Enhancers	Adipose Nuclei	Adipose
29	chr12:86141400-86142000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:86141400-86142200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:86141400-86142200	Enhancers	HUVEC	blood vessel
32	chr12:86141400-86142400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:86141600-86142000	Enhancers	Primary hematopoietic stem cells	blood
34	chr12:86141600-86142000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr12:86141600-86142000	Enhancers	Fetal Brain Male	brain
36	chr12:86141600-86142200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:86141600-86142200	Enhancers	Fetal Lung	lung
38	chr12:86141600-86142800	Enhancers	Fetal Intestine Large	intestine
39	chr12:86141600-86142800	Enhancers	Fetal Intestine Small	intestine
40	chr12:86142000-86142200	Enhancers	Adipose Nuclei	Adipose
41	chr12:86142200-86145600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:86142400-86145400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:86145400-86145800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:86145400-86145800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:86145600-86146000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:86148600-86150400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:86149200-86149400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:86149400-86149800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:86149400-86150400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr12:86149400-86150400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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