Variant report

Variant	nsv1051681
Chromosome Location	chr12:117692761-117720185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117674105..117674937-chr12:117713428..117713969,2	MCF-7	breast:
2	chr12:117710302..117711981-chr12:117716368..117718090,2	K562	blood:
3	chr12:117704757..117707127-chr12:117720324..117722231,2	MCF-7	breast:
4	chr12:117710302..117711981-chr12:117716368..117718090,2	K562	blood:

Extended variants
information (count: 1157 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1157 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114251114	chr12:117692768-117692769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373532834	chr12:117692773-117692774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182861141	chr12:117692788-117692789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565986440	chr12:117692855-117692856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534495759	chr12:117692856-117692857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113560420	chr12:117692872-117692873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573490467	chr12:117692930-117692931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116483566	chr12:117692937-117692938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187590618	chr12:117693003-117693004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2650163	chr12:117693037-117693038	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570282717	chr12:117693068-117693069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138746300	chr12:117693101-117693102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559775900	chr12:117693143-117693144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550313980	chr12:117693166-117693167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11068427	chr12:117693214-117693215	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs367971054	chr12:117693257-117693258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542049023	chr12:117693275-117693276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78973603	chr12:117693286-117693287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191662400	chr12:117693289-117693290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550620457	chr12:117693326-117693327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564256162	chr12:117693343-117693344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146180140	chr12:117693362-117693363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78470567	chr12:117693391-117693392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139118487	chr12:117693438-117693439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549439918	chr12:117693456-117693457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548078142	chr12:117693499-117693500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183207040	chr12:117693504-117693505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537250445	chr12:117693507-117693508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557067271	chr12:117693525-117693526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577044423	chr12:117693551-117693552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529673816	chr12:117693627-117693628	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371501172	chr12:117693648-117693649	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201283457	chr12:117693679-117693680	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114809634	chr12:117693680-117693681	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562253767	chr12:117693717-117693718	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372945962	chr12:117693718-117693719	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544424542	chr12:117693729-117693730	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200604635	chr12:117693744-117693745	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564218603	chr12:117693756-117693757	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370049636	chr12:117693772-117693773	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373800588	chr12:117693777-117693778	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149484022	chr12:117693792-117693793	ZNF genes & repeats Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188094607	chr12:117693813-117693814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78210735	chr12:117693815-117693816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11068428	chr12:117693817-117693818	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs200972861	chr12:117693822-117693823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192710252	chr12:117693826-117693827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184517883	chr12:117693837-117693838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372039282	chr12:117693866-117693867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570554944	chr12:117693885-117693886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	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
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117651800-117696000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117660000-117727400	Weak transcription	Psoas Muscle	Psoas
3	chr12:117666200-117704200	Weak transcription	Brain Angular Gyrus	brain
4	chr12:117674800-117706600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:117687400-117695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:117689600-117696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:117691000-117697400	Strong transcription	NHEK	skin
8	chr12:117691800-117693600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:117691800-117693600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:117693400-117693600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:117693600-117693800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:117693600-117693800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:117693600-117694200	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:117693600-117694600	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:117693800-117698200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:117693800-117715200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:117694200-117696000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:117694600-117696400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:117695600-117718200	Weak transcription	Pancreas	Pancrea
20	chr12:117695800-117697000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:117696000-117697200	Strong transcription	Brain Anterior Caudate	brain
22	chr12:117696000-117698200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:117696000-117698400	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:117696400-117698400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:117697200-117746200	Weak transcription	Brain Anterior Caudate	brain
26	chr12:117697400-117698800	Genic enhancers	NHEK	skin
27	chr12:117698200-117698400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:117698200-117698400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:117698200-117698600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:117698400-117700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:117698400-117700800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:117698600-117699200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:117698800-117699400	Enhancers	NHEK	skin
34	chr12:117699200-117701000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:117699400-117701800	ZNF genes & repeats	NHEK	skin
36	chr12:117700200-117700400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:117700600-117705000	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:117700800-117703400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:117701000-117703600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:117701800-117705400	Weak transcription	NHEK	skin
41	chr12:117701800-117710200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:117703400-117704600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:117703600-117717600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:117704600-117705000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr12:117705000-117709400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:117705000-117709400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:117705400-117705800	Strong transcription	NHEK	skin
48	chr12:117705800-117709400	Weak transcription	NHEK	skin
49	chr12:117709400-117710200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:117709400-117710600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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