Variant report

Variant	nsv1051696
Chromosome Location	chr12:59622403-59741106
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:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:59567506..59568224-chr12:59739584..59740478,2	MCF-7	breast:
2	chr12:59692138..59694777-chr12:59713415..59715358,2	MCF-7	breast:
3	chr12:59673431..59675592-chr12:59677210..59679968,2	MCF-7	breast:
4	chr12:59655684..59657205-chr12:59659679..59661187,2	MCF-7	breast:
5	chr12:59673431..59675592-chr12:59677210..59679968,2	MCF-7	breast:
6	chr12:59692138..59694777-chr12:59713415..59715358,2	MCF-7	breast:
7	chr12:59653805..59656189-chr12:59672943..59675327,2	MCF-7	breast:
8	chr12:59655684..59657205-chr12:59659679..59661187,2	MCF-7	breast:
9	chr12:59653805..59656189-chr12:59672943..59675327,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 2607 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2607 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542803843	chr12:59628245-59628246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555027160	chr12:59628286-59628287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78709389	chr12:59628301-59628302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369533415	chr12:59628345-59628346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531729575	chr12:59628347-59628348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138358391	chr12:59628408-59628409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79416376	chr12:59628412-59628413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565199866	chr12:59628450-59628451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551801176	chr12:59628480-59628481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532401695	chr12:59628486-59628487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571801761	chr12:59628489-59628490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554127581	chr12:59628503-59628504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541237538	chr12:59628511-59628512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559627981	chr12:59628544-59628545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553104139	chr12:59628583-59628584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529910526	chr12:59628590-59628591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184732194	chr12:59628640-59628641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554038068	chr12:59628735-59628736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530439094	chr12:59628754-59628755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7299405	chr12:59628775-59628776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76509660	chr12:59628910-59628911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12367690	chr12:59628971-59628972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186459358	chr12:59628974-59628975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552119296	chr12:59628990-59628991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571608627	chr12:59629002-59629003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191359896	chr12:59629008-59629009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144836458	chr12:59629009-59629010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183851507	chr12:59629020-59629021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148570433	chr12:59629046-59629047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536839284	chr12:59629155-59629156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373731767	chr12:59629156-59629157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142940655	chr12:59629178-59629179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576454462	chr12:59629224-59629225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567540933	chr12:59629307-59629308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146099689	chr12:59629332-59629333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536475354	chr12:59629396-59629397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558952327	chr12:59629403-59629404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577302273	chr12:59629460-59629461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541383371	chr12:59629496-59629497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559664363	chr12:59629505-59629506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114312972	chr12:59629508-59629509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189724328	chr12:59629608-59629609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541974147	chr12:59629643-59629644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140087921	chr12:59629657-59629658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117635812	chr12:59629686-59629687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551763756	chr12:59629711-59629712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143653909	chr12:59629735-59629736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376739340	chr12:59629742-59629743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528057954	chr12:59629776-59629777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547721700	chr12:59629784-59629785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59628200-59628600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr12:59628600-59631800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:59631200-59632200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr12:59631600-59632000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:59631600-59632000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:59631600-59632200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:59631600-59632800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:59631800-59632000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:59631800-59632200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:59632000-59634000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:59632200-59633000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:59632600-59632800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:59633400-59634200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:59633800-59634000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:59634000-59634200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:59634000-59634200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr12:59634200-59635200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:59635200-59636000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:59638800-59644200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:59642400-59642600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:59642400-59642600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:59642600-59646600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:59644000-59644800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:59644000-59645000	Enhancers	Brain Hippocampus Middle	brain
25	chr12:59644200-59644600	Enhancers	Brain Angular Gyrus	brain
26	chr12:59644200-59644600	Enhancers	Brain Anterior Caudate	brain
27	chr12:59644200-59644800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr12:59644200-59644800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:59644200-59644800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:59644200-59644800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr12:59644400-59644600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:59644400-59644800	Enhancers	Brain Cingulate Gyrus	brain
33	chr12:59644600-59646600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:59645000-59646000	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:59646000-59647400	ZNF genes & repeats	Brain Hippocampus Middle	brain
36	chr12:59646600-59647200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr12:59646600-59647400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:59646600-59648000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:59646800-59647400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:59676600-59677400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr12:59676600-59677400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr12:59676600-59677600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:59676600-59677600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:59676800-59677200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr12:59676800-59677400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:59676800-59677600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr12:59677000-59677400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:59677000-59677400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:59677000-59677400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr12:59677400-59679400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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