Variant report

Variant	esv3378535
Chromosome Location	chr19:23576364-23576618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:23571146..23573840-chr19:23574386..23577614,3	K562	blood:
2	chr19:23576348..23579660-chr19:23867719..23870587,3	MCF-7	breast:
3	chr19:23571146..23574036-chr19:23574733..23577243,2	K562	blood:

Variant related genes	Relation type
ENSG00000197372	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534237127	chr19:23576390-23576391	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575240893	chr19:23576419-23576420	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558783027	chr19:23576448-23576449	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112772766	chr19:23576456-23576457	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576827075	chr19:23576468-23576469	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs60949145	chr19:23576503-23576504	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs397972903	chr19:23576513-23576514	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114507134	chr19:23576515-23576516	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556421559	chr19:23576519-23576520	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs372729958	chr19:23576549-23576550	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs11880792	chr19:23576574-23576575	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574714971	chr19:23576599-23576600	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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	20435627	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23544000-23576400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:23549200-23577000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:23551600-23576400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:23553000-23576400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr19:23553000-23576800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:23553000-23577000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr19:23555600-23576800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:23557200-23576600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr19:23559400-23576400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:23561400-23576600	ZNF genes & repeats	Fetal Brain Female	brain
11	chr19:23564200-23576600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:23565400-23576400	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr19:23567200-23577200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:23567800-23576600	Weak transcription	Right Atrium	heart
15	chr19:23567800-23576800	Weak transcription	NH-A	brain
16	chr19:23567800-23577000	Weak transcription	Brain Angular Gyrus	brain
17	chr19:23567800-23577200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:23568000-23576800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr19:23568000-23577200	Weak transcription	Gastric	stomach
20	chr19:23568200-23577000	Weak transcription	HUVEC	blood vessel
21	chr19:23568200-23577200	Weak transcription	Esophagus	oesophagus
22	chr19:23568200-23577200	Weak transcription	Pancreas	Pancrea
23	chr19:23569200-23576400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:23569600-23576800	Weak transcription	Brain Substantia Nigra	brain
25	chr19:23569800-23576800	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr19:23570200-23576400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:23570200-23577000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:23570400-23576600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:23571200-23576600	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr19:23571200-23576800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:23572800-23576800	Weak transcription	Aorta	Aorta
32	chr19:23573000-23576600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:23573000-23577200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:23573800-23576600	Enhancers	HepG2	liver
35	chr19:23574000-23576600	Enhancers	Adipose Nuclei	Adipose
36	chr19:23574000-23577000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr19:23574200-23576400	Enhancers	Stomach Mucosa	stomach
38	chr19:23574200-23576600	Enhancers	Colon Smooth Muscle	Colon
39	chr19:23574200-23577000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:23574200-23577000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr19:23574400-23576600	Strong transcription	Fetal Stomach	stomach
42	chr19:23574400-23576800	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr19:23574600-23576800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr19:23574600-23577200	Enhancers	Fetal Heart	heart
45	chr19:23574800-23576600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr19:23574800-23576600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr19:23574800-23576600	Weak transcription	Liver	Liver
48	chr19:23574800-23576800	Weak transcription	NHDF-Ad	bronchial
49	chr19:23575000-23576800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr19:23575000-23577200	Enhancers	Small Intestine	intestine

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