Variant report

Variant	nsv1045538
Chromosome Location	chr12:117929400-117963331
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117934649..117936494-chr12:117937968..117939716,2	K562	blood:
2	chr12:117927918..117930716-chr12:117931239..117933024,2	MCF-7	breast:
3	chr12:117943124..117944687-chr12:117944971..117946627,2	K562	blood:
4	chr12:117933471..117935639-chr12:117944305..117946220,2	MCF-7	breast:
5	chr12:117937795..117939522-chr12:117945577..117947118,2	K562	blood:
6	chr12:117952997..117954824-chr12:117958093..117960432,2	K562	blood:
7	chr12:117927918..117930716-chr12:117931239..117933024,2	MCF-7	breast:
8	chr12:117934649..117936494-chr12:117937968..117939716,2	K562	blood:
9	chr12:117922408..117925128-chr12:117937120..117940013,2	MCF-7	breast:
10	chr12:117955577..117957947-chr12:117959289..117962160,2	K562	blood:
11	chr12:117913625..117915169-chr12:117932222..117935019,2	MCF-7	breast:
12	chr12:117938022..117941768-chr12:117943153..117947077,5	K562	blood:
13	chr12:117943124..117944687-chr12:117944971..117946627,2	K562	blood:
14	chr12:117955577..117957947-chr12:117959289..117962160,2	K562	blood:
15	chr1:54609374..54609957-chr12:117938978..117939810,2	MCF-7	breast:
16	chr12:117938022..117941768-chr12:117943153..117947077,5	K562	blood:
17	chr12:117933471..117935639-chr12:117944305..117946220,2	MCF-7	breast:
18	chr12:117952997..117954824-chr12:117958093..117960432,2	K562	blood:
19	chr12:117937795..117939522-chr12:117945577..117947118,2	K562	blood:

No data

Extended variants
information (count: 1285 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1285 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11068511	chr12:117929400-117929401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73210111	chr12:117929401-117929402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76364814	chr12:117929412-117929413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570781731	chr12:117929457-117929458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190797433	chr12:117929496-117929497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11068512	chr12:117929497-117929498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572995807	chr12:117929501-117929502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11068513	chr12:117929518-117929519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs572435363	chr12:117929534-117929535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574954545	chr12:117929564-117929565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183412764	chr12:117929601-117929602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11068514	chr12:117929622-117929623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs532921810	chr12:117929651-117929652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372480172	chr12:117929672-117929673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540606365	chr12:117929676-117929677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564380543	chr12:117929697-117929698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375724268	chr12:117929733-117929734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560834640	chr12:117929736-117929737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529464485	chr12:117929745-117929746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186723124	chr12:117929759-117929760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533417161	chr12:117929793-117929794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562985972	chr12:117929828-117929829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531812268	chr12:117929838-117929839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11068515	chr12:117929843-117929844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139729002	chr12:117929869-117929870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192085250	chr12:117929916-117929917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4767548	chr12:117929920-117929921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182795077	chr12:117929937-117929938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563664894	chr12:117929985-117929986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149797891	chr12:117930002-117930003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73401447	chr12:117930075-117930076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74551582	chr12:117930089-117930090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1093304	chr12:117930151-117930152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs575019783	chr12:117930192-117930193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537579943	chr12:117930206-117930207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16947636	chr12:117930208-117930209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148145788	chr12:117930224-117930225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367912671	chr12:117930227-117930228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188302966	chr12:117930266-117930267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570666470	chr12:117930276-117930277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540177156	chr12:117930313-117930314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377189071	chr12:117930320-117930321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145783138	chr12:117930334-117930335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557455706	chr12:117930339-117930340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370658638	chr12:117930440-117930441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372269679	chr12:117930445-117930446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76766217	chr12:117930490-117930491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543265371	chr12:117930516-117930517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139856583	chr12:117930517-117930518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74794110	chr12:117930536-117930537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117920800-117932800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:117924600-117931400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:117925400-117933200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:117925600-117932600	Weak transcription	Pancreas	Pancrea
5	chr12:117925600-117933200	Weak transcription	Psoas Muscle	Psoas
6	chr12:117925600-117933200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:117925600-117933400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:117926000-117932800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:117926400-117932200	Weak transcription	A549	lung
10	chr12:117932000-117934200	Enhancers	Liver	Liver
11	chr12:117932200-117932600	Enhancers	A549	lung
12	chr12:117932600-117933400	Enhancers	Lung	lung
13	chr12:117932600-117933600	Flanking Active TSS	A549	lung
14	chr12:117932600-117934200	Enhancers	Fetal Kidney	kidney
15	chr12:117932600-117934200	Enhancers	Pancreas	Pancrea
16	chr12:117932800-117933400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr12:117932800-117933400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr12:117932800-117933600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:117932800-117933600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:117932800-117934200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:117933000-117933400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:117933000-117933400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr12:117933000-117934000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:117933200-117933400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:117933200-117933400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr12:117933200-117933600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:117933200-117933600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr12:117933200-117934200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr12:117933400-117934000	Weak transcription	Lung	lung
30	chr12:117933400-117934200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:117933600-117934400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:117933600-117934400	Enhancers	A549	lung
33	chr12:117933600-117935200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:117934000-117934200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:117934000-117934200	Enhancers	Fetal Stomach	stomach
36	chr12:117934000-117934200	Enhancers	Lung	lung
37	chr12:117934200-117935400	Weak transcription	Liver	Liver
38	chr12:117934200-117936000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:117934200-117936000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:117934200-117936000	Weak transcription	Pancreas	Pancrea
41	chr12:117934200-117937400	Weak transcription	Fetal Stomach	stomach
42	chr12:117934200-117937600	Weak transcription	Lung	lung
43	chr12:117934400-117936000	Weak transcription	A549	lung
44	chr12:117935200-117936400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:117935400-117941400	Enhancers	Liver	Liver
46	chr12:117936000-117936200	Enhancers	A549	lung
47	chr12:117936000-117936400	Enhancers	Fetal Muscle Leg	muscle
48	chr12:117936000-117937800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:117936000-117940200	Enhancers	Pancreas	Pancrea
50	chr12:117936200-117936400	Enhancers	H1 Cell Line	embryonic stem cell

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