Variant report

Variant	esv3441477
Chromosome Location	chr19:43018952-43019460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr19:43019423-43020064	GM12878	blood:	n/a	n/a
2	FAM48A	chr19:43018812-43019012	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CXCL17-3	chr19:43019164-43019255	NONHSAT066562

Variant related genes	Relation type
CEACAM1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs398088724	chr19:43018956-43018957	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs6509015	chr19:43018957-43018958	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181259740	chr19:43018988-43018989	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs546930492	chr19:43019034-43019035	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575254444	chr19:43019063-43019064	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185418670	chr19:43019109-43019110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563878910	chr19:43019140-43019141	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532957226	chr19:43019148-43019149	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546416896	chr19:43019211-43019212	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs559998269	chr19:43019252-43019253	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs553380097	chr19:43019288-43019289	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549329449	chr19:43019320-43019321	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569158947	chr19:43019356-43019357	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117581423	chr19:43019389-43019390	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551892740	chr19:43019441-43019442	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs112254120	chr19:43019445-43019446	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs534378412	chr19:43019454-43019455	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43002200-43025200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:43002400-43022400	Weak transcription	Lung	lung
3	chr19:43002800-43023000	Weak transcription	Gastric	stomach
4	chr19:43003200-43030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr19:43003400-43019000	Weak transcription	Placenta	Placenta
6	chr19:43003400-43028400	Weak transcription	Esophagus	oesophagus
7	chr19:43003400-43029400	Weak transcription	Small Intestine	intestine
8	chr19:43006200-43029800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr19:43009200-43023200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:43010200-43024800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr19:43010800-43023000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr19:43012200-43028200	Strong transcription	Liver	Liver
13	chr19:43013800-43032000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr19:43014400-43019800	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr19:43014600-43024400	Weak transcription	Fetal Stomach	stomach
16	chr19:43014800-43022000	Strong transcription	HepG2	liver
17	chr19:43015000-43019800	Strong transcription	Fetal Intestine Small	intestine
18	chr19:43015600-43023000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr19:43015600-43030800	Weak transcription	Left Ventricle	heart
20	chr19:43015800-43019200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:43015800-43025400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr19:43016000-43032400	Weak transcription	Brain Anterior Caudate	brain
23	chr19:43016200-43023200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr19:43016400-43025000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:43016600-43022000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:43016600-43023200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:43016600-43023600	Weak transcription	Spleen	Spleen
28	chr19:43016600-43024200	Weak transcription	Colonic Mucosa	Colon
29	chr19:43016600-43024800	Weak transcription	Adipose Nuclei	Adipose
30	chr19:43016600-43029400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:43016600-43031800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr19:43017000-43025200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr19:43017200-43024200	Weak transcription	Primary B cells from cord blood	blood
34	chr19:43017400-43031400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:43017800-43025600	Weak transcription	Primary B cells from peripheral blood	blood
36	chr19:43018000-43019600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:43018000-43019800	Enhancers	GM12878-XiMat	blood
38	chr19:43018200-43030400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:43018600-43019000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:43018600-43019000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:43018600-43019000	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:43018600-43019400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr19:43018600-43019400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr19:43018600-43019600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr19:43018600-43019800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr19:43018600-43019800	Strong transcription	Fetal Intestine Large	intestine
47	chr19:43018600-43027200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr19:43018800-43019000	ZNF genes & repeats	Stomach Mucosa	stomach
49	chr19:43018800-43019600	Strong transcription	Primary T cells from cord blood	blood
50	chr19:43019000-43019400	Enhancers	Placenta	Placenta

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