Variant report

Variant	esv3350381
Chromosome Location	chr12:50707605-50708011
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50707901-50707951	HL-60	blood:	n/a
2	chr12:50707901-50707951	HCF	heart:	n/a
3	chr12:50707901-50707951	HEEpiC	esophagus:	n/a
4	chr12:50707901-50707951	AoSMC	blood vessel:	n/a
5	chr12:50707901-50707951	LNCaP	prostate:	n/a
6	chr12:50707901-50707951	AG04450	lung:	fetal
7	chr12:50707901-50707951	H1-hESC	embryonic stem cell:	embryo
8	chr12:50707901-50707951	NH-A	brain:	n/a
9	chr12:50707901-50707951	HUVEC	blood vessel:	n/a
10	chr12:50707901-50707951	AG09309	skin:	n/a
11	chr12:50707901-50707951	GM06990	blood:	n/a
12	chr12:50707901-50707951	HCT-116	colon:	n/a
13	chr12:50707901-50707951	Hepatocyte	liver:	n/a
14	chr12:50707901-50707951	Hela-S3	cervix:	n/a
15	chr12:50707901-50707951	GM12878	blood:	n/a
16	chr12:50707901-50707951	T-47D	breast:	n/a
17	chr12:50707901-50707951	SK-N-MC	brain:	n/a
18	chr12:50707901-50707951	SAEC	small airway:	n/a
19	chr12:50707901-50707951	HAEpiC	amniotic membrane:	n/a
20	chr12:50707901-50707951	HRPEpiC	eye:	n/a
21	chr12:50707901-50707951	HPAEpiC	pulmonary alveolar:	n/a
22	chr12:50707901-50707951	GM19239	blood:	n/a
23	chr12:50707901-50707951	Caco-2	colon:	n/a
24	chr12:50707901-50707951	PFSK-1	brain:	n/a
25	chr12:50707901-50707951	HepG2	liver:	n/a
26	chr12:50707901-50707951	PrEC	prostate:	n/a
27	chr12:50707901-50707951	NB4	blood:	n/a
28	chr12:50707901-50707951	GM12891	blood:	n/a
29	chr12:50707901-50707951	Jurkat	blood:	n/a
30	chr12:50707901-50707951	HNPCEpiC	eye:	n/a
31	chr12:50707901-50707951	HEK293	kidney:	embryo
32	chr12:50707901-50707951	U87	brain:	n/a
33	chr12:50707901-50707951	SK-N-SH	brain:	n/a
34	chr12:50707901-50707951	K562	blood:	n/a
35	chr12:50707901-50707951	IMR90	lung:	fetal
36	chr12:50707901-50707951	GM12892	blood:	n/a
37	chr12:50707901-50707951	A549	lung:	n/a
38	chr12:50707901-50707951	MCF10A-Er-Src	breast:	n/a
39	chr12:50707901-50707951	HCM	heart:	n/a
40	chr12:50707901-50707951	AG10803	skin:	n/a
41	chr12:50707901-50707951	NHDF-neo	bronchial:	n/a
42	chr12:50707901-50707951	BJ	skin:	n/a
43	chr12:50707901-50707951	ECC-1	luminal epithelium:	n/a
44	chr12:50707901-50707951	ProgFib	skin:	n/a
45	chr12:50707901-50707951	HMEC	breast:	n/a
46	chr12:50707901-50707951	MCF-7	breast:	n/a
47	chr12:50707901-50707951	CMK	blood:	n/a
48	chr12:50707901-50707951	BE2_C	brain:	n/a
49	chr12:50707901-50707951	PANC-1	pancreas:	n/a
50	chr12:50707901-50707951	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50575888..50577120-chr12:50707949..50709207,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000203425	CpG island
ENSG00000203424	CpG island
ENSG00000203421	CpG island
ENSG00000050405	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	rs111729006	chr12:50707606-50707607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78811598	chr12:50707619-50707620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78038285	chr12:50707621-50707622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111460902	chr12:50707623-50707624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577503117	chr12:50707748-50707749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532286719	chr12:50707766-50707767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552078445	chr12:50707811-50707812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568706485	chr12:50707839-50707840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191330736	chr12:50707846-50707847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10783349	chr12:50707853-50707854	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs11169373	chr12:50707886-50707887	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs536620865	chr12:50707905-50707906	Enhancers Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
13	rs553107571	chr12:50707906-50707907	Enhancers Weak transcription	CpG island	2 gene(s)	Overlapped CNVs	n/a
14	rs183572731	chr12:50707973-50707974	Enhancers Weak transcription	Chromatin interactive region	1 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
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
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50678400-50708600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:50679800-50708600	Weak transcription	Liver	Liver
3	chr12:50690000-50711800	Weak transcription	Ovary	ovary
4	chr12:50692000-50719800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:50692400-50708800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:50693600-50722800	Weak transcription	Fetal Intestine Small	intestine
7	chr12:50698800-50708600	Weak transcription	Hela-S3	cervix
8	chr12:50705000-50707800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:50706000-50708800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:50706000-50708800	Weak transcription	HSMMtube	muscle
11	chr12:50706000-50708800	Weak transcription	NHLF	lung
12	chr12:50706400-50720000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:50706600-50708800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:50706800-50709000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:50707200-50708200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:50707400-50708800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:50707400-50720000	Weak transcription	Osteobl	bone
18	chr12:50707400-50720400	Weak transcription	Stomach Mucosa	stomach
19	chr12:50707600-50708800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:50707600-50708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:50707600-50708800	Weak transcription	HMEC	breast
22	chr12:50707600-50708800	Weak transcription	NHDF-Ad	bronchial
23	chr12:50707600-50719600	Weak transcription	A549	lung
24	chr12:50707800-50708800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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