Variant report

Variant	nsv899390
Chromosome Location	chr12:85466723-85499132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:85470175..85471007-chr12:86313905..86314467,2	MCF-7	breast:
2	chr12:85496315..85499030-chr12:85506456..85509353,2	K562	blood:
3	chr12:85470092..85470900-chr12:85818409..85819385,3	MCF-7	breast:
4	chr12:85469399..85472134-chr9:139733502..139735289,2	MCF-7	breast:
5	chr12:85470147..85471061-chr12:85788737..85789303,2	MCF-7	breast:
6	chr12:85470481..85471011-chr12:86260831..86261575,2	MCF-7	breast:

Extended variants
information (count: 204 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186862785	chr12:85469049-85469050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190910505	chr12:85469058-85469059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76162638	chr12:85469109-85469110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142512891	chr12:85469159-85469160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146704407	chr12:85469165-85469166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139365274	chr12:85469175-85469176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574504114	chr12:85469198-85469199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570718250	chr12:85469199-85469200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542824385	chr12:85469219-85469220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531727721	chr12:85469232-85469233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183371407	chr12:85469261-85469262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188206422	chr12:85469358-85469359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531844516	chr12:85469462-85469463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113983810	chr12:85469473-85469474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565280583	chr12:85469498-85469499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532359959	chr12:85469506-85469507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377244141	chr12:85469538-85469539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184847947	chr12:85470616-85470617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148192426	chr12:85470624-85470625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552430402	chr12:85470630-85470631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11116696	chr12:85470641-85470642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189980583	chr12:85470655-85470656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377345988	chr12:85470671-85470672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553060573	chr12:85470715-85470716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552653513	chr12:85470731-85470732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73379770	chr12:85470790-85470791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370917740	chr12:85470832-85470833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182097560	chr12:85470852-85470853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs137921983	chr12:85470859-85470860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142577745	chr12:85470889-85470890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144566010	chr12:85470896-85470897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373367261	chr12:85470897-85470898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543585528	chr12:85470898-85470899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145988781	chr12:85470906-85470907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577426620	chr12:85471001-85471002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541716614	chr12:85471012-85471013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3847769	chr12:85471016-85471017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs186302792	chr12:85471027-85471028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191296775	chr12:85471052-85471053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78958616	chr12:85471062-85471063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563751876	chr12:85471085-85471086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181355649	chr12:85471086-85471087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs359984	chr12:85471087-85471088	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs74488102	chr12:85471096-85471097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570667978	chr12:85471134-85471135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528327815	chr12:85471136-85471137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546869243	chr12:85471138-85471139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535183818	chr12:85478801-85478802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552776155	chr12:85478818-85478819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374677408	chr12:85478822-85478823	Enhancers	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
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
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
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
Cancer	20164920	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85469000-85469600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:85470600-85471000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr12:85470600-85471000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:85470600-85471000	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr12:85470600-85471200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:85470600-85471200	Enhancers	NHEK	skin
7	chr12:85470800-85471000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:85470800-85471200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:85470800-85471200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:85470800-85471200	Enhancers	Hela-S3	cervix
11	chr12:85478800-85479400	Enhancers	Fetal Lung	lung
12	chr12:85483600-85484000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:85483600-85484000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr12:85483600-85484000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:85483600-85484000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:85483600-85484000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:85483800-85484200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr12:85483800-85484200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:85486000-85487400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:85486200-85487800	Enhancers	HMEC	breast
21	chr12:85486400-85487400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:85486600-85486800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:85486600-85487200	Enhancers	NHEK	skin
24	chr12:85487000-85487600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:85490600-85491200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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