Variant report

Variant	esv3463494
Chromosome Location	chr3:119419914-119420353
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:119419950-119420073	K562	blood:	n/a	n/a
2	CEBPB	chr3:119418818-119419942	GM12878	blood:	n/a	n/a
3	FOXM1	chr3:119419150-119419999	GM12878	blood:	n/a	n/a
4	IRF1	chr3:119420186-119420682	K562	blood:	n/a	chr3:119420375-119420396
5	IRF1	chr3:119420196-119420617	K562	blood:	n/a	chr3:119420375-119420396
6	MTA3	chr3:119418693-119419925	GM12878	blood:	n/a	n/a
7	NFIC	chr3:119419155-119419992	GM12878	blood:	n/a	n/a
8	NFIC	chr3:119419144-119419982	GM12878	blood:	n/a	n/a
9	NFYA	chr3:119419517-119420025	GM12878	blood:	n/a	chr3:119419753-119419763 chr3:119419753-119419763 chr3:119419751-119419764 chr3:119419750-119419762 chr3:119419751-119419766
10	NR2F2	chr3:119419779-119420113	K562	blood:	n/a	n/a
11	PML	chr3:119418899-119420243	GM12878	blood:	n/a	n/a
12	RELA	chr3:119419195-119420010	GM18505	blood:	n/a	n/a
13	RELA	chr3:119418922-119419918	GM10847	blood:	n/a	n/a
14	RELA	chr3:119419199-119419918	GM12891	blood:	n/a	n/a
15	RELA	chr3:119419209-119420018	GM18951	blood:	n/a	n/a
16	SPI1	chr3:119419192-119419971	GM12878	blood:	n/a	n/a
17	STAT5A	chr3:119419234-119419959	GM12878	blood:	n/a	chr3:119419549-119419556
18	TAL1	chr3:119419807-119420104	K562	blood:	n/a	n/a
19	WRNIP1	chr3:119419910-119420072	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:119420208-119420258	Jurkat	blood:	n/a
2	chr3:119420208-119420258	ProgFib	skin:	n/a
3	chr3:119420208-119420258	PFSK-1	brain:	n/a
4	chr3:119420208-119420258	Caco-2	colon:	n/a
5	chr3:119420208-119420258	AG04450	lung:	fetal
6	chr3:119420208-119420258	SK-N-SH	brain:	n/a
7	chr3:119420208-119420258	HL-60	blood:	n/a
8	chr3:119420208-119420258	HAEpiC	amniotic membrane:	n/a
9	chr3:119420208-119420258	NB4	blood:	n/a
10	chr3:119420208-119420258	BE2_C	brain:	n/a
11	chr3:119420208-119420258	NHBE	bronchial:	n/a
12	chr3:119420208-119420258	AG10803	skin:	n/a
13	chr3:119420208-119420258	GM12878	blood:	n/a
14	chr3:119420208-119420258	GM06990	blood:	n/a
15	chr3:119420208-119420258	PANC-1	pancreas:	n/a
16	chr3:119420208-119420258	Hela-S3	cervix:	n/a
17	chr3:119420208-119420258	SK-N-MC	brain:	n/a
18	chr3:119420208-119420258	HEK293	kidney:	embryo
19	chr3:119420208-119420258	SAEC	small airway:	n/a
20	chr3:119420208-119420258	RPTEC	kidney:	n/a
21	chr3:119420208-119420258	HNPCEpiC	eye:	n/a
22	chr3:119420208-119420258	GM12891	blood:	n/a
23	chr3:119420208-119420258	HCPEpiC	choroid plexus:	n/a
24	chr3:119420208-119420258	HCM	heart:	n/a
25	chr3:119420208-119420258	MCF10A-Er-Src	breast:	n/a
26	chr3:119420208-119420258	HPAEpiC	pulmonary alveolar:	n/a
27	chr3:119420208-119420258	Hepatocyte	liver:	n/a
28	chr3:119420208-119420258	LNCaP	prostate:	n/a
29	chr3:119420208-119420258	NH-A	brain:	n/a
30	chr3:119420208-119420258	CMK	blood:	n/a
31	chr3:119420208-119420258	IMR90	lung:	fetal
32	chr3:119420208-119420258	GM12892	blood:	n/a
33	chr3:119420208-119420258	NHDF-neo	bronchial:	n/a
34	chr3:119420208-119420258	MCF-7	breast:	n/a
35	chr3:119420208-119420258	BJ	skin:	n/a
36	chr3:119420208-119420258	H1-hESC	embryonic stem cell:	embryo
37	chr3:119420208-119420258	ovcar-3	ovarian:	n/a
38	chr3:119420208-119420258	ECC-1	luminal epithelium:	n/a
39	chr3:119420208-119420258	HRE	kidney:	n/a
40	chr3:119420208-119420258	HEEpiC	esophagus:	n/a
41	chr3:119420208-119420258	HMEC	breast:	n/a
42	chr3:119420208-119420258	HUVEC	blood vessel:	n/a
43	chr3:119420208-119420258	HepG2	liver:	n/a
44	chr3:119420208-119420258	GM19239	blood:	n/a
45	chr3:119420208-119420258	SKMC	muscle:	n/a
46	chr3:119420208-119420258	SK-N-SH_RA	brain:	n/a
47	chr3:119420208-119420258	U87	brain:	n/a
48	chr3:119420208-119420258	HCT-116	colon:	n/a
49	chr3:119420208-119420258	HRPEpiC	eye:	n/a
50	chr3:119420208-119420258	K562	blood:	n/a

No data

Variant related genes	Relation type
MAATS1	TF binding region
MAATS1	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200333709	chr3:119419914-119419915	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs527593267	chr3:119419930-119419931	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs545775962	chr3:119419965-119419966	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs114781288	chr3:119420013-119420014	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs116649244	chr3:119420019-119420020	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs151146884	chr3:119420024-119420025	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568180476	chr3:119420062-119420063	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs114626214	chr3:119420073-119420074	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs140125688	chr3:119420082-119420083	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs551636775	chr3:119420084-119420085	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs181434758	chr3:119420089-119420090	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs186177269	chr3:119420122-119420123	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs558979954	chr3:119420159-119420160	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs548308921	chr3:119420164-119420165	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs73192040	chr3:119420209-119420210	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530743713	chr3:119420341-119420342	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119406000-119421400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:119418400-119421200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:119418400-119422200	ZNF genes & repeats	GM12878-XiMat	blood
4	chr3:119418800-119421400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:119419000-119420800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr3:119419000-119421200	Enhancers	Adipose Nuclei	Adipose
7	chr3:119419000-119421200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr3:119419000-119421400	Enhancers	Primary B cells from peripheral blood	blood
9	chr3:119419000-119421400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:119419000-119421400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr3:119419000-119421400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr3:119419000-119421400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr3:119419200-119420200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr3:119419200-119420600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr3:119419200-119420600	Enhancers	HUVEC	blood vessel
16	chr3:119419200-119420800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:119419200-119420800	Enhancers	Left Ventricle	heart
18	chr3:119419200-119420800	Enhancers	Small Intestine	intestine
19	chr3:119419200-119421200	Enhancers	Duodenum Mucosa	Duodenum
20	chr3:119419200-119421400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr3:119419200-119421400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:119419400-119420000	Enhancers	K562	blood
23	chr3:119419400-119420400	Weak transcription	Placenta	Placenta
24	chr3:119419400-119421200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:119419400-119421400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:119419400-119421400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr3:119419400-119421400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr3:119419400-119421400	Weak transcription	Stomach Mucosa	stomach
29	chr3:119419600-119420000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:119419600-119420400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:119419600-119421200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:119419600-119421200	Weak transcription	Right Ventricle	heart
33	chr3:119419600-119421200	Weak transcription	A549	lung
34	chr3:119419600-119421400	Enhancers	Liver	Liver
35	chr3:119419800-119420000	Enhancers	Primary B cells from cord blood	blood
36	chr3:119419800-119421400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:119420000-119420200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr3:119420000-119420200	Enhancers	Dnd41	blood
39	chr3:119420200-119420400	Enhancers	Primary B cells from cord blood	blood
40	chr3:119420200-119420400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr3:119420200-119420600	Enhancers	Ovary	ovary
42	chr3:119420200-119420600	Enhancers	Spleen	Spleen
43	chr3:119420200-119420600	Flanking Active TSS	Dnd41	blood
44	chr3:119420200-119421200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:119420200-119421200	Weak transcription	Rectal Mucosa Donor 31	rectum

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