Variant report

Variant	nsv559146
Chromosome Location	chr12:61119266-61315791
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:61265974..61267764-chr12:61267899..61270793,2	K562	blood:
2	chr12:61237684..61240062-chr12:61243559..61245280,2	K562	blood:
3	chr12:61237684..61240062-chr12:61243559..61245280,2	K562	blood:
4	chr12:61283745..61285342-chr12:61298601..61300697,2	MCF-7	breast:
5	chr12:61183373..61185053-chr12:61199472..61201484,2	K562	blood:
6	chr12:61190167..61190689-chr8:43096069..43096590,2	MCF-7	breast:
7	chr12:61283745..61285342-chr12:61298601..61300697,2	MCF-7	breast:
8	chr12:61224129..61226014-chr12:61242973..61245139,2	MCF-7	breast:
9	chr12:61183373..61185053-chr12:61199472..61201484,2	K562	blood:
10	chr12:61189187..61192169-chr8:43095061..43097452,4	MCF-7	breast:
11	chr12:61190187..61191167-chr8:43092261..43093429,5	MCF-7	breast:
12	chr12:61265974..61267764-chr12:61267899..61270793,2	K562	blood:
13	chr12:61224129..61226014-chr12:61242973..61245139,2	MCF-7	breast:
14	chr12:61189187..61190689-chr8:43092929..43094431,2	MCF-7	breast:
15	chr1:188145515..188146513-chr12:61190169..61191167,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A7-8	chr12:61238450-61238656	expReg_chr12_6535_+

No data

Extended variants
information (count: 1866 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1866 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529976084	chr12:61133602-61133603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs371669204	chr12:61133608-61133609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs149363759	chr12:61133656-61133657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184997540	chr12:61133662-61133663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144729142	chr12:61133673-61133674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs552032089	chr12:61133700-61133701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs374219595	chr12:61133719-61133720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs148540720	chr12:61133762-61133763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs567163845	chr12:61133777-61133778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs528108529	chr12:61133782-61133783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs540576565	chr12:61133805-61133806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs141928945	chr12:61133924-61133925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568330991	chr12:61133931-61133932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs377069802	chr12:61133939-61133940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs77227492	chr12:61133966-61133967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs61163669	chr12:61134001-61134002	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs146127376	chr12:61134040-61134041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs570698614	chr12:61134045-61134046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs74618214	chr12:61134046-61134047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs73378986	chr12:61134110-61134111	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs78321194	chr12:61134124-61134125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs143902526	chr12:61134132-61134133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs535740044	chr12:61134156-61134157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549574952	chr12:61134163-61134164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs190687094	chr12:61134231-61134232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146892119	chr12:61134251-61134252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564335978	chr12:61134302-61134303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533375697	chr12:61134329-61134330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545867495	chr12:61134345-61134346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192438262	chr12:61134380-61134381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528209378	chr12:61134419-61134420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547825280	chr12:61134435-61134436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374872506	chr12:61134458-61134459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568070360	chr12:61134488-61134489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184836871	chr12:61134547-61134548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73378988	chr12:61134548-61134549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372885965	chr12:61134549-61134550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112794924	chr12:61134550-61134551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117724022	chr12:61134561-61134562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569499742	chr12:61134575-61134576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553151250	chr12:61134583-61134584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149887412	chr12:61134594-61134595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144936581	chr12:61134609-61134610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367976990	chr12:61134701-61134702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555303068	chr12:61134738-61134739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538424367	chr12:61134796-61134797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184570637	chr12:61139017-61139018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11833155	chr12:61139058-61139059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557386159	chr12:61139067-61139068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187712750	chr12:61139137-61139138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute myeloid leukemia	20962326	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:61133600-61134200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:61134200-61134800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:61139000-61139200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:61146200-61147000	Enhancers	Dnd41	blood
5	chr12:61153800-61155200	Enhancers	Dnd41	blood
6	chr12:61190200-61190600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:61195000-61195800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr12:61195200-61195400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:61195800-61197000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:61197000-61197200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:61197000-61197400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:61197200-61197400	Enhancers	Stomach Smooth Muscle	stomach
13	chr12:61197600-61199000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:61199000-61199200	Enhancers	Stomach Smooth Muscle	stomach
15	chr12:61199000-61199600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:61199200-61199600	Enhancers	Colon Smooth Muscle	Colon
17	chr12:61199200-61199600	Active TSS	Stomach Smooth Muscle	stomach
18	chr12:61201200-61206200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:61206200-61206400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
22	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
24	chr12:61206200-61206400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:61206200-61206400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
26	chr12:61206200-61206400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr12:61206400-61213000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:61220600-61220800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:61220800-61223600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:61223600-61223800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:61223800-61224000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:61223800-61224000	Enhancers	Hela-S3	cervix
33	chr12:61224400-61224800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:61224800-61225800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:61225600-61226200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:61225800-61226000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:61225800-61227000	Enhancers	Hela-S3	cervix
38	chr12:61226000-61226600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:61226200-61226600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:61226600-61227000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:61226600-61227000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:61228400-61229200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr12:61228400-61229600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr12:61228400-61229800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:61228600-61229600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr12:61229000-61229400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr12:61229000-61229600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr12:61229000-61229600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr12:61229200-61229600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:61236400-61239800	Enhancers	Fetal Lung	lung

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