Variant report

Variant	esv3351914
Chromosome Location	chr12:49619098-49619327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:49619313-49619964	PFSK-1	brain:	n/a	n/a
2	RAD21	chr12:49619305-49619848	HCT-116	colon:	n/a	n/a
3	RAD21	chr12:49619314-49619626	SK-N-SH_RA	brain:	n/a	n/a
4	RAD21	chr12:49619225-49619758	H1-hESC	embryonic stem cell:	n/a	n/a
5	SMC3	chr12:49619237-49619727	SK-N-SH	brain:	n/a	n/a
6	ZNF263	chr12:49619320-49619750	HEK293-T-REx	kidney:	n/a	chr12:49619475-49619484

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
2	chr12:49617540..49619785-chr12:49657644..49659586,2	K562	blood:
3	chr12:49519485..49526890-chr12:49616239..49624332,15	K562	blood:
4	chr12:49617947..49619571-chr12:49625520..49628045,3	K562	blood:
5	chr12:49608287..49610880-chr12:49615814..49620950,5	K562	blood:
6	chr12:49617947..49619523-chr12:49625520..49627493,2	K562	blood:

No data

Variant related genes	Relation type
TUBA1C	TF binding region
ENSG00000258017	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000200309	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000167553	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 68 )

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	rs555657472	chr12:49619121-49619122	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs77846406	chr12:49619134-49619135	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs56244620	chr12:49619135-49619136	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs570858015	chr12:49619149-49619150	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs189241381	chr12:49619179-49619180	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs145446471	chr12:49619203-49619204	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs540836972	chr12:49619205-49619206	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs560700365	chr12:49619211-49619212	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs532518631	chr12:49619221-49619222	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs546254770	chr12:49619256-49619257	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs534777472	chr12:49619265-49619266	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs562774067	chr12:49619275-49619276	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs531597646	chr12:49619305-49619306	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs570795531	chr12:49619307-49619308	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Cancer	20164919	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49610200-49625800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:49612200-49620200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:49615200-49625600	Weak transcription	Placenta	Placenta
4	chr12:49616400-49619800	Enhancers	Brain Hippocampus Middle	brain
5	chr12:49616800-49619400	Weak transcription	A549	lung
6	chr12:49616800-49621000	Weak transcription	Fetal Brain Female	brain
7	chr12:49616800-49624400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:49616800-49625800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:49616800-49626000	Weak transcription	Adipose Nuclei	Adipose
10	chr12:49617000-49619400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:49617000-49619400	Weak transcription	NHEK	skin
12	chr12:49617000-49619600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:49617000-49619600	Weak transcription	Fetal Thymus	thymus
14	chr12:49617000-49624000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:49617200-49619400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:49617200-49619400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:49617200-49619400	Weak transcription	Osteobl	bone
18	chr12:49617200-49619600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:49617200-49620000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:49617400-49619400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:49617400-49619600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:49617600-49619400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:49617600-49620800	Weak transcription	Fetal Brain Male	brain
24	chr12:49617600-49625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:49617600-49625800	Weak transcription	NHDF-Ad	bronchial
26	chr12:49617600-49626000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:49617800-49619400	Weak transcription	HSMM	muscle
28	chr12:49617800-49620800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:49617800-49621400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:49617800-49621400	Weak transcription	Brain Angular Gyrus	brain
31	chr12:49617800-49621400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr12:49617800-49621400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:49618000-49619400	Weak transcription	Brain Substantia Nigra	brain
34	chr12:49618000-49620600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:49618000-49621400	Weak transcription	Brain Anterior Caudate	brain
36	chr12:49618400-49619200	Enhancers	Primary B cells from cord blood	blood
37	chr12:49618400-49619400	Weak transcription	HSMMtube	muscle
38	chr12:49618400-49619400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:49618400-49621000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:49618400-49621400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr12:49618600-49619400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:49618600-49621000	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:49618800-49619200	Weak transcription	Spleen	Spleen
44	chr12:49619000-49620000	Enhancers	K562	blood
45	chr12:49619000-49620000	Enhancers	NHLF	lung
46	chr12:49619200-49619800	Enhancers	Lung	lung
47	chr12:49619200-49619800	Enhancers	Spleen	Spleen
48	chr12:49619200-49624000	Weak transcription	Primary B cells from cord blood	blood

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