Variant report

Variant	esv2549989
Chromosome Location	chr19:27732257-27732257
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:27732227..27733066-chr2:112641278..112641778,2	NB4	blood:
2	chr1:149214587..149215555-chr19:27732071..27732710,2	NB4	blood:
3	chr1:121484264..121485397-chr19:27732209..27732850,5	K562	blood:
4	chr10:71897930..71900730-chr19:27730502..27732728,2	MCF-7	breast:
5	chr19:27732227..27733192-chr7:96693711..96694501,2	MCF-7	breast:
6	chr17:59482833..59484547-chr19:27731694..27733523,2	MCF-7	breast:
7	chr17:56707857..56709514-chr19:27731768..27734278,2	MCF-7	breast:
8	chr1:121482654..121485417-chr19:27730386..27733214,11	MCF-7	breast:
9	chr19:27731802..27732517-chr6:28456742..28457568,2	NB4	blood:
10	chr10:42526475..42528192-chr19:27731227..27733212,2	MCF-7	breast:
11	chr19:27732023..27732564-chr2:239212879..239213848,2	MCF-7	breast:
12	chr19:27731227..27733512-chr20:55840170..55842696,2	MCF-7	breast:
13	chr19:27731209..27732712-chr3:104107101..104108601,2	MCF-7	breast:
14	chr19:27732167..27734609-chr5:14472438..14475218,2	MCF-7	breast:
15	chr14:31781406..31781906-chr19:27732227..27733066,2	MCF-7	breast:
16	chr19:27731229..27733214-chr8:102884050..102885632,2	MCF-7	breast:
17	chr1:121484536..121485417-chr19:27732233..27733219,3	MCF-7	breast:
18	chr19:27731712..27733212-chr19:27736249..27738480,2	MCF-7	breast:
19	chr19:27730503..27732709-chr9:139305201..139307172,2	MCF-7	breast:
20	chr1:121483185..121485419-chr19:27730521..27734410,16	K562	blood:
21	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
22	chr19:27732231..27733220-chr8:18696335..18696835,2	MCF-7	breast:
23	chr19:27731523..27732363-chr8:52777077..52777577,2	MCF-7	breast:
24	chr19:27732209..27732712-chr2:133011942..133012867,2	MCF-7	breast:
25	chr1:121483052..121485434-chr19:27730501..27733191,4	MCF-7	breast:
26	chr10:42397869..42400416-chr19:27731046..27733513,2	MCF-7	breast:
27	chr10:42528302..42530981-chr19:27731210..27733512,2	MCF-7	breast:
28	chr19:18390431..18393009-chr19:27731584..27734229,2	MCF-7	breast:
29	chr19:27732230..27732731-chr8:18696335..18696835,2	MCF-7	breast:
30	chr19:27731523..27732363-chr6:45117749..45118249,2	MCF-7	breast:
31	chr1:16840041..16840541-chr19:27732211..27733192,2	MCF-7	breast:
32	chr1:121482676..121485402-chr19:27730501..27733214,12	K562	blood:
33	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
34	chr19:27732023..27732712-chr20:46012477..46013112,2	MCF-7	breast:
35	chr10:38146701..38147201-chr19:27732023..27732863,2	NB4	blood:
36	chr19:27731258..27733523-chr2:232326492..232328767,2	MCF-7	breast:
37	chr1:121484518..121485426-chr19:27732227..27733212,7	MCF-7	breast:
38	chr1:149855028..149856935-chr19:27731051..27732710,2	MCF-7	breast:
39	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
40	chr1:121484523..121485419-chr19:27732208..27733212,6	MCF-7	breast:
41	chr16:56965838..56966517-chr19:27732143..27733070,2	Hela-S3	cervix:
42	chr19:27730503..27733214-chr19:27735926..27737745,2	K562	blood:
43	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101144	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000038382	chromatin interactions
ENSG00000153107	chromatin interactions
ENSG00000115053	chromatin interactions
ENSG00000051108	chromatin interactions
ENSG00000252826	chromatin interactions
ENSG00000267959	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000198105	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 38 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4788314	chr19:27732257-27732258	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
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
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
4	chr19:27731800-27732400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	Dnd41	blood
6	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	HSMM	muscle
7	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	K562	blood
8	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	NHLF	lung
9	chr19:27731800-27732600	ZNF genes & repeats	Right Atrium	heart
10	chr19:27731800-27732600	ZNF genes & repeats	HepG2	liver
11	chr19:27731800-27733000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:27731800-27733000	ZNF genes & repeats	Fetal Kidney	kidney
13	chr19:27731800-27733000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
14	chr19:27731800-27733400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:27731800-27733400	Flanking Bivalent TSS/Enh	Aorta	Aorta
16	chr19:27731800-27733400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
17	chr19:27731800-27733400	ZNF genes & repeats	Right Ventricle	heart
18	chr19:27731800-27733400	Flanking Bivalent TSS/Enh	NH-A	brain
19	chr19:27731800-27733400	ZNF genes & repeats	NHEK	skin
20	chr19:27731800-27733600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
21	chr19:27731800-27733600	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr19:27731800-27733600	Flanking Bivalent TSS/Enh	Gastric	stomach
23	chr19:27731800-27733600	Flanking Bivalent TSS/Enh	Hela-S3	cervix
24	chr19:27731800-27734600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:27731800-27734600	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr19:27731800-27734600	ZNF genes & repeats	Placenta	Placenta
27	chr19:27731800-27734800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:27731800-27734800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:27731800-27734800	ZNF genes & repeats	Esophagus	oesophagus
30	chr19:27731800-27734800	ZNF genes & repeats	Pancreas	Pancrea
31	chr19:27731800-27734800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
32	chr19:27731800-27734800	ZNF genes & repeats	GM12878-XiMat	blood
33	chr19:27731800-27735000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:27731800-27735000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
35	chr19:27731800-27735000	ZNF genes & repeats	Fetal Brain Female	brain
36	chr19:27731800-27735400	ZNF genes & repeats	Fetal Thymus	thymus
37	chr19:27731800-27736200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr19:27731800-27737000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:27731800-27737000	ZNF genes & repeats	Osteobl	bone
40	chr19:27731800-27738600	ZNF genes & repeats	Thymus	Thymus
41	chr19:27731800-27739000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr19:27731800-27739600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr19:27731800-27739600	ZNF genes & repeats	Brain Hippocampus Middle	brain
44	chr19:27731800-27739600	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chr19:27731800-27739600	ZNF genes & repeats	Ovary	ovary
46	chr19:27731800-27739600	ZNF genes & repeats	Spleen	Spleen
47	chr19:27731800-27739800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:27731800-27739800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
49	chr19:27731800-27739800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr19:27731800-27739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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