Variant report

Variant	esv3397477
Chromosome Location	chr12:51378666-51379086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51345574..51348481-chr12:51378601..51380683,2	K562	blood:
2	chr12:51377579..51380145-chr12:51442153..51443726,2	K562	blood:
3	chr12:51375354..51377058-chr12:51377116..51379193,2	MCF-7	breast:
4	chr12:51377924..51379984-chr12:51420251..51421770,2	MCF-7	breast:
5	chr12:51234738..51237496-chr12:51378684..51381232,2	K562	blood:

Variant related genes	Relation type
ENSG00000214511	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000243075	chromatin interactions
ENSG00000186452	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67259551	chr12:51378701-51378702	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181320008	chr12:51378719-51378720	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs115106222	chr12:51378747-51378748	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs572618245	chr12:51378762-51378763	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs371678406	chr12:51378809-51378810	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs541668311	chr12:51378844-51378845	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs35541093	chr12:51378882-51378883	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs564626119	chr12:51378903-51378904	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs76609294	chr12:51378904-51378905	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs543536436	chr12:51378959-51378960	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs114154034	chr12:51378963-51378964	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs185584484	chr12:51378976-51378977	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs577291906	chr12:51379013-51379014	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs535147895	chr12:51379082-51379083	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
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
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
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
low-grade B-cell lymphoma tumor	18367492	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
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:51331800-51382000	Weak transcription	Ovary	ovary
3	chr12:51341800-51383200	Weak transcription	Fetal Brain Male	brain
4	chr12:51344000-51382000	Weak transcription	Esophagus	oesophagus
5	chr12:51344600-51381600	Weak transcription	Spleen	Spleen
6	chr12:51350800-51380600	Weak transcription	Fetal Lung	lung
7	chr12:51354400-51383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:51359800-51380400	Weak transcription	Fetal Kidney	kidney
9	chr12:51360200-51381800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:51360600-51381000	Weak transcription	Primary B cells from cord blood	blood
11	chr12:51360600-51381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:51361600-51382200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:51362400-51382000	Weak transcription	Lung	lung
14	chr12:51362800-51384400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:51363400-51384000	Weak transcription	Colonic Mucosa	Colon
16	chr12:51363600-51381200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:51364000-51380400	Weak transcription	K562	blood
18	chr12:51364600-51384400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:51366200-51380000	Weak transcription	Dnd41	blood
20	chr12:51366400-51379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:51366600-51380200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:51366800-51382000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:51367000-51379600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:51367000-51380400	Weak transcription	Fetal Brain Female	brain
25	chr12:51367000-51380400	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:51367000-51382000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:51367200-51379800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:51367200-51382000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:51367200-51382000	Weak transcription	Fetal Stomach	stomach
30	chr12:51367200-51382200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:51367400-51381800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:51371600-51380600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr12:51372200-51384600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:51373000-51381000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:51373400-51378800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:51373400-51383400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:51373800-51380200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:51374000-51378800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:51374000-51380600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:51374000-51381400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:51374200-51382000	Weak transcription	Pancreas	Pancrea
42	chr12:51374800-51380200	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:51375000-51379000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr12:51375000-51379200	Weak transcription	GM12878-XiMat	blood
45	chr12:51375000-51380400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:51375400-51380400	Weak transcription	Placenta	Placenta
47	chr12:51375400-51381800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:51375600-51378800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:51375600-51379400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:51375600-51380200	Weak transcription	Primary monocytes fromperipheralblood	blood

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