Variant report

Variant	nsv526849
Chromosome Location	chr12:61154009-61253485
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

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

(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: 1588 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1498463	chr12:61154009-61154010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559252644	chr12:61154030-61154031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568882376	chr12:61154037-61154038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555325302	chr12:61154083-61154084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575186322	chr12:61154091-61154092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141209684	chr12:61154155-61154156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557565259	chr12:61154177-61154178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577691895	chr12:61154189-61154190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187964748	chr12:61154243-61154244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11173581	chr12:61154244-61154245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115125769	chr12:61154290-61154291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201894206	chr12:61154323-61154324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372751990	chr12:61154324-61154325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548307509	chr12:61154422-61154423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563009854	chr12:61154423-61154424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34604393	chr12:61154427-61154428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532080457	chr12:61154479-61154480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551982800	chr12:61154489-61154490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11173582	chr12:61154491-61154492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533052089	chr12:61154509-61154510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546338307	chr12:61154526-61154527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566564092	chr12:61154547-61154548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139303122	chr12:61154593-61154594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373504957	chr12:61154601-61154602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555356959	chr12:61154604-61154605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568794750	chr12:61154606-61154607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142605639	chr12:61154614-61154615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74094072	chr12:61154635-61154636	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540429891	chr12:61154693-61154694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553949814	chr12:61154723-61154724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574097126	chr12:61154724-61154725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542642763	chr12:61154732-61154733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1032640	chr12:61154733-61154734	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370723722	chr12:61154788-61154789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532040016	chr12:61154854-61154855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545756676	chr12:61154861-61154862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77190737	chr12:61154862-61154863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190644211	chr12:61154881-61154882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114528505	chr12:61154886-61154887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182887014	chr12:61154902-61154903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529018008	chr12:61154916-61154917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539719122	chr12:61154987-61154988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187954062	chr12:61155056-61155057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566989574	chr12:61155082-61155083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568557328	chr12:61155109-61155110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537736817	chr12:61155110-61155111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536047913	chr12:61155128-61155129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146654454	chr12:61155172-61155173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs63112360	chr12:61155173-61155174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199920948	chr12:61155177-61155178	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:61153800-61155200	Enhancers	Dnd41	blood
2	chr12:61190200-61190600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr12:61195000-61195800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr12:61195200-61195400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:61195800-61197000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:61197000-61197200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr12:61197000-61197400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:61197200-61197400	Enhancers	Stomach Smooth Muscle	stomach
9	chr12:61197600-61199000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:61199000-61199200	Enhancers	Stomach Smooth Muscle	stomach
11	chr12:61199000-61199600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:61199200-61199600	Enhancers	Colon Smooth Muscle	Colon
13	chr12:61199200-61199600	Active TSS	Stomach Smooth Muscle	stomach
14	chr12:61201200-61206200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:61206200-61206400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:61206200-61206400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
20	chr12:61206200-61206400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr12:61206200-61206400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
22	chr12:61206200-61206400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
23	chr12:61206400-61213000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:61220600-61220800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:61220800-61223600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:61223600-61223800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:61223800-61224000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:61223800-61224000	Enhancers	Hela-S3	cervix
29	chr12:61224400-61224800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:61224800-61225800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:61225600-61226200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:61225800-61226000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:61225800-61227000	Enhancers	Hela-S3	cervix
34	chr12:61226000-61226600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:61226200-61226600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:61226600-61227000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:61226600-61227000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:61228400-61229200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:61228400-61229600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr12:61228400-61229800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:61228600-61229600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr12:61229000-61229400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr12:61229000-61229600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr12:61229000-61229600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:61229200-61229600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr12:61236400-61239800	Enhancers	Fetal Lung	lung
47	chr12:61238400-61238800	Enhancers	Liver	Liver
48	chr12:61238400-61239000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:61238800-61239200	Flanking Active TSS	Liver	Liver
50	chr12:61239200-61239400	Active TSS	Liver	Liver

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