Variant report

Variant	nsv53354
Chromosome Location	chr12:50568840-50569146
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50505885..50506863-chr12:50568984..50569683,2	MCF-7	breast:
2	chr12:50498783..50499478-chr12:50568932..50569561,2	K562	blood:
3	chr12:50468576..50469894-chr12:50568295..50570304,9	MCF-7	breast:
4	chr12:50360364..50361158-chr12:50569027..50569866,4	K562	blood:
5	chr12:50560194..50561915-chr12:50567388..50569961,2	MCF-7	breast:
6	chr12:50481996..50482697-chr12:50569139..50569977,2	K562	blood:
7	chr12:50495490..50496038-chr12:50568971..50569909,2	MCF-7	breast:
8	chr12:50504882..50505728-chr12:50568694..50569880,4	MCF-7	breast:
9	chr12:50478841..50479799-chr12:50569016..50569810,2	K562	blood:
10	chr12:50468630..50469759-chr12:50568675..50570193,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000086159	chromatin interactions
ENSG00000139624	chromatin interactions
ENSG00000272368	chromatin interactions
ENSG00000178449	chromatin interactions
ENSG00000066117	chromatin interactions
ENSG00000167588	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372385381	chr12:50568840-50568841	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375875063	chr12:50568845-50568846	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184914911	chr12:50568847-50568848	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369867718	chr12:50568854-50568855	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs77757622	chr12:50568884-50568885	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563245988	chr12:50568911-50568912	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs73106156	chr12:50568920-50568921	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549001789	chr12:50568970-50568971	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557824273	chr12:50568974-50568975	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs147760403	chr12:50569009-50569010	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs534940285	chr12:50569011-50569012	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs551570632	chr12:50569074-50569075	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs190260231	chr12:50569123-50569124	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50561200-50569800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:50561200-50570600	Weak transcription	Aorta	Aorta
3	chr12:50561600-50570600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:50561600-50570800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:50561600-50570800	Weak transcription	Esophagus	oesophagus
6	chr12:50561600-50570800	Weak transcription	Gastric	stomach
7	chr12:50561600-50570800	Weak transcription	Pancreas	Pancrea
8	chr12:50561600-50571200	Weak transcription	Lung	lung
9	chr12:50561600-50571200	Weak transcription	Right Ventricle	heart
10	chr12:50561600-50575200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:50561800-50569000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:50561800-50569200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:50561800-50569200	Weak transcription	Brain Anterior Caudate	brain
14	chr12:50561800-50569200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:50561800-50569600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:50561800-50569600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:50561800-50569800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:50561800-50569800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:50561800-50569800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:50561800-50569800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:50561800-50569800	Weak transcription	NHLF	lung
22	chr12:50561800-50570000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:50561800-50570000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:50561800-50570000	Weak transcription	Psoas Muscle	Psoas
25	chr12:50561800-50570000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:50561800-50570400	Weak transcription	Fetal Brain Female	brain
27	chr12:50561800-50570600	Weak transcription	Primary T cells from cord blood	blood
28	chr12:50561800-50570600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:50561800-50570800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:50561800-50570800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:50561800-50570800	Weak transcription	Brain Angular Gyrus	brain
32	chr12:50561800-50570800	Weak transcription	Brain Hippocampus Middle	brain
33	chr12:50561800-50570800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:50561800-50570800	Weak transcription	Ovary	ovary
35	chr12:50561800-50571000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:50561800-50571000	Weak transcription	Colonic Mucosa	Colon
37	chr12:50561800-50571000	Weak transcription	Spleen	Spleen
38	chr12:50561800-50571200	Weak transcription	Brain Germinal Matrix	brain
39	chr12:50561800-50571200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:50561800-50571200	Weak transcription	Left Ventricle	heart
41	chr12:50561800-50571200	Weak transcription	Thymus	Thymus
42	chr12:50561800-50573000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:50561800-50574800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:50561800-50574800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:50561800-50575000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:50561800-50582600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:50561800-50582600	Weak transcription	Stomach Mucosa	stomach
48	chr12:50562000-50569200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:50562000-50569200	Weak transcription	HSMM	muscle
50	chr12:50562000-50569600	Weak transcription	Primary T cells fromperipheralblood	blood

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