Variant report

Variant	nsv559054
Chromosome Location	chr12:59671388-59735221
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:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:59653805..59656189-chr12:59672943..59675327,2	MCF-7	breast:
2	chr12:59692138..59694777-chr12:59713415..59715358,2	MCF-7	breast:
3	chr12:59692138..59694777-chr12:59713415..59715358,2	MCF-7	breast:
4	chr12:59673431..59675592-chr12:59677210..59679968,2	MCF-7	breast:
5	chr12:59673431..59675592-chr12:59677210..59679968,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A7-4	chr12:59712962-59714552	NONHSAT029042
2	lnc-SLC16A7-4	chr12:59714688-59717255	NONHSAT029042

No data

Extended variants
information (count: 1754 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1754 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139695875	chr12:59676618-59676619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189027287	chr12:59676619-59676620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576327971	chr12:59676636-59676637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78865920	chr12:59676642-59676643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180980915	chr12:59676644-59676645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150974099	chr12:59676654-59676655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376733985	chr12:59676697-59676698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116100483	chr12:59676761-59676762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114627885	chr12:59676770-59676771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61936480	chr12:59676771-59676772	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs140780849	chr12:59676796-59676797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184652539	chr12:59676805-59676806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530460688	chr12:59676828-59676829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571488101	chr12:59676845-59676846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552129406	chr12:59676854-59676855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189973583	chr12:59676889-59676890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539329539	chr12:59676913-59676914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548020344	chr12:59676991-59676992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566230405	chr12:59676993-59676994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558692038	chr12:59677013-59677014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536765137	chr12:59677041-59677042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554730737	chr12:59677047-59677048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149679775	chr12:59677142-59677143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537076818	chr12:59677196-59677197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7975333	chr12:59677228-59677229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs74985644	chr12:59677261-59677262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140229137	chr12:59677271-59677272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559146582	chr12:59677289-59677290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574261008	chr12:59677302-59677303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541994576	chr12:59677313-59677314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563268063	chr12:59677314-59677315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78909014	chr12:59677323-59677324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551926126	chr12:59677332-59677333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564031378	chr12:59677376-59677377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532857954	chr12:59677421-59677422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548080888	chr12:59677424-59677425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566291085	chr12:59677437-59677438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536880133	chr12:59677444-59677445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546277903	chr12:59677457-59677458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538248701	chr12:59677465-59677466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11172980	chr12:59677515-59677516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367668522	chr12:59677516-59677517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570096388	chr12:59677525-59677526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537541146	chr12:59677528-59677529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558687234	chr12:59677545-59677546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117846179	chr12:59677588-59677589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534623248	chr12:59677605-59677606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114210287	chr12:59677630-59677631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574371893	chr12:59677663-59677664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531162623	chr12:59677696-59677697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59676600-59677400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr12:59676600-59677400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr12:59676600-59677600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:59676600-59677600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:59676800-59677200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:59676800-59677400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:59676800-59677600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:59677000-59677400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:59677000-59677400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:59677000-59677400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:59677400-59679400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:59683600-59688000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:59684000-59684200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:59684200-59684800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:59684800-59685600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:59686400-59687000	Enhancers	Gastric	stomach
17	chr12:59687000-59687200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr12:59687000-59692200	Weak transcription	Gastric	stomach
19	chr12:59688000-59688200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:59688200-59688600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:59688600-59689000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:59690200-59690400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:59690400-59692200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:59692200-59692400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:59692200-59692400	Enhancers	Gastric	stomach
26	chr12:59697400-59698600	Enhancers	Fetal Heart	heart
27	chr12:59698200-59698400	Enhancers	Aorta	Aorta
28	chr12:59704600-59707400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:59705400-59707400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:59707200-59709000	Enhancers	Brain Germinal Matrix	brain
31	chr12:59707400-59707600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:59707400-59713400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:59707600-59708000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:59708000-59708200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:59708200-59714000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:59709800-59710000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr12:59710000-59710800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:59710800-59711200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr12:59711200-59711400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:59711200-59711600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr12:59711200-59711800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:59711400-59711600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr12:59711400-59711600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:59711400-59712000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:59711400-59714400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:59711400-59715000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:59711600-59712800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:59711600-59715000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:59711600-59715200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:59711800-59712000	Enhancers	HUES64 Cell Line	embryonic stem cell

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