Variant report

Variant	esv3387319
Chromosome Location	chr19:27732052-27733167
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:50)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:27732227..27733066-chr2:112641278..112641778,2	NB4	blood:
2	chr10:42397869..42400416-chr19:27731046..27733513,2	MCF-7	breast:
3	chr19:27730503..27732709-chr9:139305201..139307172,2	MCF-7	breast:
4	chr1:121483185..121485419-chr19:27730521..27734410,16	K562	blood:
5	chr19:27732230..27732731-chr8:18696335..18696835,2	MCF-7	breast:
6	chr1:149214587..149215555-chr19:27732071..27732710,2	NB4	blood:
7	chr19:18390431..18393009-chr19:27731584..27734229,2	MCF-7	breast:
8	chr19:27732023..27732712-chr20:46012477..46013112,2	MCF-7	breast:
9	chr1:121482654..121485417-chr19:27730386..27733214,11	MCF-7	breast:
10	chr1:121484536..121485417-chr19:27732233..27733219,3	MCF-7	breast:
11	chr17:19335400..19335900-chr19:27733012..27733518,2	MCF-7	breast:
12	chr19:27731229..27733214-chr8:102884050..102885632,2	MCF-7	breast:
13	chr19:27732023..27732564-chr2:239212879..239213848,2	MCF-7	breast:
14	chr1:16840041..16840541-chr19:27732211..27733192,2	MCF-7	breast:
15	chr1:121484264..121485397-chr19:27732209..27732850,5	K562	blood:
16	chr1:121483052..121485434-chr19:27730501..27733191,4	MCF-7	breast:
17	chr17:59482833..59484547-chr19:27731694..27733523,2	MCF-7	breast:
18	chr19:27732209..27732712-chr2:133011942..133012867,2	MCF-7	breast:
19	chr19:27732780..27734287-chr3:119350472..119351972,2	MCF-7	breast:
20	chr10:42526475..42528192-chr19:27731227..27733212,2	MCF-7	breast:
21	chr10:42527520..42529802-chr19:27732626..27735592,2	K562	blood:
22	chr19:27731227..27733512-chr20:55840170..55842696,2	MCF-7	breast:
23	chr10:42528302..42530981-chr19:27731210..27733512,2	MCF-7	breast:
24	chr19:27731523..27732363-chr8:52777077..52777577,2	MCF-7	breast:
25	chr1:121484518..121485426-chr19:27732227..27733212,7	MCF-7	breast:
26	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
27	chr1:121484523..121485419-chr19:27732208..27733212,6	MCF-7	breast:
28	chr1:121482676..121485402-chr19:27730501..27733214,12	K562	blood:
29	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
30	chr12:94727463..94727963-chr19:27732677..27733518,2	NB4	blood:
31	chr10:38146701..38147201-chr19:27732023..27732863,2	NB4	blood:
32	chr19:27732330..27733194-chr5:176074096..176074934,2	Hela-S3	cervix:
33	chr19:27732227..27733192-chr7:96693711..96694501,2	MCF-7	breast:
34	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
35	chr14:31781406..31781906-chr19:27732227..27733066,2	MCF-7	breast:
36	chr19:27731523..27732363-chr6:45117749..45118249,2	MCF-7	breast:
37	chr19:27731712..27733212-chr19:27736249..27738480,2	MCF-7	breast:
38	chr19:27732167..27734609-chr5:14472438..14475218,2	MCF-7	breast:
39	chr16:56965838..56966517-chr19:27732143..27733070,2	Hela-S3	cervix:
40	chr19:27731258..27733523-chr2:232326492..232328767,2	MCF-7	breast:
41	chr19:27732624..27734230-chr6:74223460..74226002,2	K562	blood:
42	chr19:27731209..27732712-chr3:104107101..104108601,2	MCF-7	breast:
43	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
44	chr19:27732231..27733220-chr8:18696335..18696835,2	MCF-7	breast:
45	chr19:27730503..27733214-chr19:27735926..27737745,2	K562	blood:
46	chr1:149855028..149856935-chr19:27731051..27732710,2	MCF-7	breast:
47	chr19:27731802..27732517-chr6:28456742..28457568,2	NB4	blood:
48	chr10:71897930..71900730-chr19:27730502..27732728,2	MCF-7	breast:
49	chr12:28945509..28947009-chr19:27732727..27734566,2	MCF-7	breast:
50	chr17:56707857..56709514-chr19:27731768..27734278,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000048140	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000153107	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000267959	chromatin interactions
ENSG00000115053	chromatin interactions
ENSG00000198105	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000038382	chromatin interactions
ENSG00000051108	chromatin interactions
ENSG00000252826	chromatin interactions
ENSG00000130522	chromatin interactions

Extended variants
information (count: 466 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74208967	chr19:27732052-27732053	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs74205063	chr19:27732054-27732055	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs74215406	chr19:27732055-27732056	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs200509751	chr19:27732056-27732057	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs4787595	chr19:27732057-27732058	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs74187212	chr19:27732058-27732059	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs74193352	chr19:27732059-27732060	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs74191822	chr19:27732060-27732061	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs36130176	chr19:27732062-27732063	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs74188474	chr19:27732063-27732064	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs4788360	chr19:27732064-27732065	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs74202354	chr19:27732065-27732066	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs74201213	chr19:27732066-27732067	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs74207377	chr19:27732068-27732069	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs74189488	chr19:27732069-27732070	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs74197639	chr19:27732070-27732071	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs4898020	chr19:27732071-27732072	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs74218455	chr19:27732073-27732074	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs74210125	chr19:27732074-27732075	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs74198794	chr19:27732076-27732077	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs74210499	chr19:27732077-27732078	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs74187151	chr19:27732078-27732079	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs74193672	chr19:27732079-27732080	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs74185156	chr19:27732080-27732081	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs74201230	chr19:27732081-27732082	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs74184485	chr19:27732082-27732083	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs74219219	chr19:27732083-27732084	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs74211780	chr19:27732084-27732085	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs74188075	chr19:27732086-27732087	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs74191862	chr19:27732087-27732088	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs36193405	chr19:27732088-27732089	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs74185019	chr19:27732089-27732090	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs74188009	chr19:27732090-27732091	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs74188962	chr19:27732091-27732092	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs74211273	chr19:27732093-27732094	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs74222048	chr19:27732094-27732095	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs74213384	chr19:27732096-27732097	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs146127173	chr19:27732100-27732101	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs36182311	chr19:27732101-27732102	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs4788279	chr19:27732102-27732103	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs4103093	chr19:27732105-27732106	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs4787522	chr19:27732107-27732108	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs4787523	chr19:27732108-27732109	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs146290295	chr19:27732110-27732111	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs74222919	chr19:27732114-27732115	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs74211302	chr19:27732115-27732116	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs74221239	chr19:27732116-27732117	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs74194590	chr19:27732118-27732119	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs4115058	chr19:27732119-27732120	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs36148538	chr19:27732120-27732121	ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	8 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:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27732200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
5	chr19:27731800-27732400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	Dnd41	blood
7	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	HSMM	muscle
8	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	K562	blood
9	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	NHLF	lung
10	chr19:27731800-27732600	ZNF genes & repeats	Right Atrium	heart
11	chr19:27731800-27732600	ZNF genes & repeats	HepG2	liver
12	chr19:27731800-27733000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:27731800-27733000	ZNF genes & repeats	Fetal Kidney	kidney
14	chr19:27731800-27733000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
15	chr19:27731800-27733400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:27731800-27733400	Flanking Bivalent TSS/Enh	Aorta	Aorta
17	chr19:27731800-27733400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
18	chr19:27731800-27733400	ZNF genes & repeats	Right Ventricle	heart
19	chr19:27731800-27733400	Flanking Bivalent TSS/Enh	NH-A	brain
20	chr19:27731800-27733400	ZNF genes & repeats	NHEK	skin
21	chr19:27731800-27733600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
22	chr19:27731800-27733600	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr19:27731800-27733600	Flanking Bivalent TSS/Enh	Gastric	stomach
24	chr19:27731800-27733600	Flanking Bivalent TSS/Enh	Hela-S3	cervix
25	chr19:27731800-27734600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:27731800-27734600	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr19:27731800-27734600	ZNF genes & repeats	Placenta	Placenta
28	chr19:27731800-27734800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:27731800-27734800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:27731800-27734800	ZNF genes & repeats	Esophagus	oesophagus
31	chr19:27731800-27734800	ZNF genes & repeats	Pancreas	Pancrea
32	chr19:27731800-27734800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
33	chr19:27731800-27734800	ZNF genes & repeats	GM12878-XiMat	blood
34	chr19:27731800-27735000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:27731800-27735000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
36	chr19:27731800-27735000	ZNF genes & repeats	Fetal Brain Female	brain
37	chr19:27731800-27735400	ZNF genes & repeats	Fetal Thymus	thymus
38	chr19:27731800-27736200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr19:27731800-27737000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:27731800-27737000	ZNF genes & repeats	Osteobl	bone
41	chr19:27731800-27738600	ZNF genes & repeats	Thymus	Thymus
42	chr19:27731800-27739000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
43	chr19:27731800-27739600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr19:27731800-27739600	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr19:27731800-27739600	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr19:27731800-27739600	ZNF genes & repeats	Ovary	ovary
47	chr19:27731800-27739600	ZNF genes & repeats	Spleen	Spleen
48	chr19:27731800-27739800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:27731800-27739800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
50	chr19:27731800-27739800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood

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