Variant report

Variant	nsv45586
Chromosome Location	chr12:51613814-51613815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:51613763-51613815	ProgFib	skin:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51474677..51478892-chr12:51609953..51613954,8	K562	blood:
2	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
3	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
4	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:
5	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:
6	chr12:51565491..51567919-chr12:51611128..51615638,5	K562	blood:
7	chr12:51611105..51614311-chr12:51630494..51636750,15	K562	blood:
8	chr12:51611953..51614531-chr12:51619084..51621846,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAZAP2-3	chr12:51611479-51615172	NONHSAT028246

No data

Variant related genes	Relation type
POU6F1	TF binding region
ENSG00000269339	chromatin interactions
ENSG00000135457	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000183283	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 69 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10591728	chr12:51613814-51613815	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Urothelial carcinoma	21177765	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20409316	CNVD
Hodgkin''s lymphoma	18179710	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51612600-51614000	Enhancers	Fetal Heart	heart
2	chr12:51612800-51614000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:51612800-51614200	Enhancers	Fetal Brain Male	brain
4	chr12:51612800-51616200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:51612800-51619800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:51612800-51621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:51612800-51622200	Weak transcription	Lung	lung
8	chr12:51612800-51622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:51613000-51614000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:51613000-51616000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:51613000-51616200	Weak transcription	Brain Anterior Caudate	brain
12	chr12:51613000-51616200	Weak transcription	Brain Germinal Matrix	brain
13	chr12:51613000-51616200	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:51613000-51616200	Weak transcription	Gastric	stomach
15	chr12:51613000-51616200	Weak transcription	Ovary	ovary
16	chr12:51613000-51619000	Weak transcription	Fetal Brain Female	brain
17	chr12:51613000-51619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:51613000-51619200	Weak transcription	Brain Angular Gyrus	brain
19	chr12:51613000-51621200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr12:51613000-51621200	Weak transcription	Fetal Stomach	stomach
21	chr12:51613000-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:51613200-51614000	Enhancers	Fetal Lung	lung
23	chr12:51613200-51618600	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:51613400-51614200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr12:51613400-51616200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:51613400-51616200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr12:51613400-51616200	Weak transcription	Brain Substantia Nigra	brain
28	chr12:51613400-51616200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:51613400-51616200	Weak transcription	HUVEC	blood vessel
30	chr12:51613400-51617600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:51613400-51621600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:51613400-51622400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:51613400-51631600	Weak transcription	Thymus	Thymus
34	chr12:51613400-51631800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:51613400-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:51613400-51632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:51613600-51614000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr12:51613600-51614000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:51613600-51616200	Weak transcription	Liver	Liver
40	chr12:51613600-51620000	Weak transcription	Fetal Intestine Small	intestine
41	chr12:51613600-51631800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:51613600-51631800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:51613600-51631800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:51613800-51614000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:51613800-51616200	Weak transcription	A549	lung
46	chr12:51613800-51616200	Weak transcription	K562	blood
47	chr12:51613800-51616400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr12:51613800-51618600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:51613800-51619200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:51613800-51623600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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