Variant report

Variant	nsv934226
Chromosome Location	chr19:39997946-39998341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39986687..39989536-chr19:39995949..39998206,2	K562	blood:
2	chr19:39970404..39973001-chr19:39996294..39998434,3	K562	blood:
3	chr19:39988036..39992269-chr19:39996706..39999798,3	K562	blood:
4	chr19:39967682..39970182-chr19:39997915..39999826,2	K562	blood:
5	chr19:39992886..39995682-chr19:39996281..39999154,5	K562	blood:
6	chr19:39967682..39973021-chr19:39995906..39999826,6	K562	blood:
7	chr19:39996434..39999971-chr19:40007133..40012367,8	K562	blood:
8	chr19:39921832..39923691-chr19:39996313..39998056,2	K562	blood:
9	chr19:39993663..39995682-chr19:39996281..39998082,2	K562	blood:
10	chr19:39989819..39993497-chr19:39996220..39998915,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105197	chromatin interactions
ENSG00000090932	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572290101	chr19:39997961-39997962	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182454962	chr19:39997969-39997970	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs561167838	chr19:39997971-39997972	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs187836169	chr19:39998001-39998002	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531838368	chr19:39998030-39998031	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368229699	chr19:39998041-39998042	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201354924	chr19:39998068-39998069	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369634266	chr19:39998083-39998084	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs104894676	chr19:39998096-39998097	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs111556824	chr19:39998098-39998099	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs543714737	chr19:39998117-39998118	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs14635	chr19:39998132-39998133	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191149379	chr19:39998147-39998148	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs376283152	chr19:39998166-39998167	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1055331	chr19:39998170-39998171	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369266504	chr19:39998195-39998196	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547155681	chr19:39998207-39998208	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs200988915	chr19:39998208-39998209	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs568745157	chr19:39998232-39998233	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs374940435	chr19:39998279-39998280	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529833749	chr19:39998290-39998291	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs548379236	chr19:39998313-39998314	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569870934	chr19:39998325-39998326	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	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
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	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

Chromatin state (count:192 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39997000-39998000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr19:39997200-39998000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
3	chr19:39997200-39999000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:39997400-39998000	Enhancers	Primary B cells from cord blood	blood
5	chr19:39997400-39998000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
6	chr19:39997400-39998000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:39997400-39998000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr19:39997400-39998000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr19:39997400-39998000	Bivalent/Poised TSS	NH-A	brain
10	chr19:39997400-39998200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:39997400-39998200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:39997400-39998200	Enhancers	Liver	Liver
13	chr19:39997400-39998200	Enhancers	Fetal Brain Male	brain
14	chr19:39997400-39998200	Bivalent Enhancer	Placenta	Placenta
15	chr19:39997400-39998400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
16	chr19:39997400-39998400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
17	chr19:39997400-39998400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:39997400-39998400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
19	chr19:39997400-39998400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr19:39997400-39998400	Bivalent Enhancer	Fetal Heart	heart
21	chr19:39997400-39998400	Active TSS	A549	lung
22	chr19:39997400-39998400	Flanking Active TSS	HMEC	breast
23	chr19:39997400-39998600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:39997400-39998600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
25	chr19:39997400-39998600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:39997400-39998600	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr19:39997400-39998800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:39997400-39998800	Active TSS	HSMM	muscle
29	chr19:39997400-39999000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr19:39997600-39998000	Enhancers	Primary B cells from peripheral blood	blood
31	chr19:39997600-39998000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
32	chr19:39997600-39998000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:39997600-39998000	Bivalent/Poised TSS	HepG2	liver
34	chr19:39997600-39998200	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
35	chr19:39997600-39998200	Bivalent/Poised TSS	Aorta	Aorta
36	chr19:39997600-39998200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
37	chr19:39997600-39998200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
38	chr19:39997600-39998200	Bivalent Enhancer	Fetal Lung	lung
39	chr19:39997600-39998200	Bivalent/Poised TSS	Fetal Stomach	stomach
40	chr19:39997600-39998200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
41	chr19:39997600-39998200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
42	chr19:39997600-39998200	Transcr. at gene 5' and 3'	Right Atrium	heart
43	chr19:39997600-39998200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr19:39997600-39998200	Active TSS	Hela-S3	cervix
45	chr19:39997600-39998200	Active TSS	K562	blood
46	chr19:39997600-39998200	Bivalent/Poised TSS	NHEK	skin
47	chr19:39997600-39998400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:39997600-39998400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:39997600-39998400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:39997600-39998400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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