Variant report

Variant	nsv911480
Chromosome Location	chr19:24290278-24344979
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:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:24269211..24271747-chr19:24290443..24293090,2	K562	blood:
2	chr19:24269735..24271787-chr19:24289462..24293668,3	MCF-7	breast:
3	chr19:24278737..24281409-chr19:24289986..24291875,2	K562	blood:
4	chr19:24309408..24311273-chr19:24321594..24323328,2	MCF-7	breast:
5	chr19:24309408..24311273-chr19:24321594..24323328,2	MCF-7	breast:
6	chr19:24269939..24272519-chr19:24310930..24313655,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZNF254	hsa-miR-155-5p	chr19:24311154-24311177
2	ZNF254	hsa-miR-155-5p	chr19:24312469-24312491

Variant related genes	Relation type
ENSG00000213096	chromatin interactions

Extended variants
information (count: 2818 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:2818 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369655451	chr19:24290384-24290385	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs546786643	chr19:24290398-24290399	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566203771	chr19:24290422-24290423	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540090807	chr19:24290443-24290444	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558089859	chr19:24290448-24290449	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576258138	chr19:24290541-24290542	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534791368	chr19:24290595-24290596	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35518370	chr19:24290616-24290617	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537232792	chr19:24290633-24290634	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554986891	chr19:24290634-24290635	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373223998	chr19:24290680-24290681	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186973417	chr19:24290832-24290833	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541072628	chr19:24290929-24290930	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11668697	chr19:24291049-24291050	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149437332	chr19:24291095-24291096	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs144425883	chr19:24291125-24291126	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564355781	chr19:24291145-24291146	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531574939	chr19:24291254-24291255	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs190382235	chr19:24291307-24291308	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561768357	chr19:24291322-24291323	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370713339	chr19:24291345-24291346	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183327634	chr19:24291367-24291368	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565642174	chr19:24291417-24291418	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187701106	chr19:24291444-24291445	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs552086452	chr19:24291460-24291461	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373876333	chr19:24291490-24291491	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367876534	chr19:24291574-24291575	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377489696	chr19:24291621-24291622	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557240479	chr19:24291622-24291623	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537296405	chr19:24291683-24291684	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555495752	chr19:24291685-24291686	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370434117	chr19:24291695-24291696	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148399458	chr19:24291759-24291760	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535086052	chr19:24291814-24291815	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2463032	chr19:24291827-24291828	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368761277	chr19:24291829-24291830	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs112813223	chr19:24291855-24291856	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147585598	chr19:24291930-24291931	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558129372	chr19:24291961-24291962	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576356781	chr19:24291979-24291980	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543649970	chr19:24292037-24292038	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140409990	chr19:24292130-24292131	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374455332	chr19:24292131-24292132	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529000886	chr19:24292164-24292165	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373163068	chr19:24292166-24292167	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189823311	chr19:24292168-24292169	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112537476	chr19:24292183-24292184	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs182840093	chr19:24292195-24292196	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563506523	chr19:24292209-24292210	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144360693	chr19:24292303-24292304	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24270600-24290600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:24270600-24290600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:24270600-24290600	Weak transcription	Gastric	stomach
4	chr19:24270600-24290600	Weak transcription	Pancreas	Pancrea
5	chr19:24270600-24290600	Weak transcription	Spleen	Spleen
6	chr19:24270600-24296200	Weak transcription	Stomach Mucosa	stomach
7	chr19:24270800-24290600	Weak transcription	Aorta	Aorta
8	chr19:24270800-24290600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:24270800-24291000	Weak transcription	Psoas Muscle	Psoas
10	chr19:24270800-24291400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:24271000-24290800	Weak transcription	Right Ventricle	heart
12	chr19:24271200-24300200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:24271400-24290600	Weak transcription	Hela-S3	cervix
14	chr19:24271400-24292400	Weak transcription	NHEK	skin
15	chr19:24271400-24295000	Weak transcription	HMEC	breast
16	chr19:24271400-24301400	Weak transcription	HSMMtube	muscle
17	chr19:24271400-24308600	Weak transcription	K562	blood
18	chr19:24275200-24294000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:24275800-24290600	Weak transcription	Fetal Thymus	thymus
20	chr19:24279400-24290600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:24280800-24293800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:24281000-24290600	Weak transcription	HepG2	liver
23	chr19:24281400-24291200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr19:24281800-24293000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:24282000-24291800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr19:24282000-24292600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr19:24282200-24293000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:24282400-24290600	Weak transcription	Esophagus	oesophagus
29	chr19:24282400-24290600	Weak transcription	Left Ventricle	heart
30	chr19:24282600-24294000	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:24284200-24290600	Strong transcription	Liver	Liver
32	chr19:24284200-24290800	Strong transcription	HSMM	muscle
33	chr19:24284200-24293600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:24284600-24290600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr19:24284800-24290400	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:24284800-24290600	Weak transcription	Brain Anterior Caudate	brain
37	chr19:24284800-24290800	Weak transcription	Brain Angular Gyrus	brain
38	chr19:24284800-24290800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr19:24284800-24300400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr19:24285000-24302200	Weak transcription	Brain Substantia Nigra	brain
41	chr19:24285600-24293800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:24285600-24293800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:24285800-24290800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:24285800-24293000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:24286000-24290600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr19:24286000-24290600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr19:24286000-24291400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:24286000-24291600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
49	chr19:24286000-24292600	Strong transcription	Adipose Nuclei	Adipose
50	chr19:24286600-24290600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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