Variant report

Variant	esv3349038
Chromosome Location	chr19:27731786-27732234
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:27732023..27732712-chr20:46012477..46013112,2	MCF-7	breast:
2	chr10:42528302..42530981-chr19:27731210..27733512,2	MCF-7	breast:
3	chr19:27732231..27733220-chr8:18696335..18696835,2	MCF-7	breast:
4	chr19:27731229..27733214-chr8:102884050..102885632,2	MCF-7	breast:
5	chr19:27732227..27733066-chr2:112641278..112641778,2	NB4	blood:
6	chr1:16840041..16840541-chr19:27732211..27733192,2	MCF-7	breast:
7	chr19:27732227..27733192-chr7:96693711..96694501,2	MCF-7	breast:
8	chr19:27731802..27732517-chr6:28456742..28457568,2	NB4	blood:
9	chr10:71897930..71900730-chr19:27730502..27732728,2	MCF-7	breast:
10	chr19:27732167..27734609-chr5:14472438..14475218,2	MCF-7	breast:
11	chr10:38146701..38147201-chr19:27732023..27732863,2	NB4	blood:
12	chr10:42526475..42528192-chr19:27731227..27733212,2	MCF-7	breast:
13	chr19:27731712..27733212-chr19:27736249..27738480,2	MCF-7	breast:
14	chr10:42397869..42400416-chr19:27731046..27733513,2	MCF-7	breast:
15	chr14:31781406..31781906-chr19:27732227..27733066,2	MCF-7	breast:
16	chr17:56707857..56709514-chr19:27731768..27734278,2	MCF-7	breast:
17	chr19:18390431..18393009-chr19:27731584..27734229,2	MCF-7	breast:
18	chr1:121484523..121485419-chr19:27732208..27733212,6	MCF-7	breast:
19	chr16:56965838..56966517-chr19:27732143..27733070,2	Hela-S3	cervix:
20	chr1:149214587..149215555-chr19:27732071..27732710,2	NB4	blood:
21	chr12:34844846..34846346-chr19:27730625..27733192,2	K562	blood:
22	chr19:27731523..27732363-chr8:52777077..52777577,2	MCF-7	breast:
23	chr1:121484518..121485426-chr19:27732227..27733212,7	MCF-7	breast:
24	chr19:27731523..27732363-chr6:45117749..45118249,2	MCF-7	breast:
25	chr19:27731258..27733523-chr2:232326492..232328767,2	MCF-7	breast:
26	chr1:121484264..121485397-chr19:27732209..27732850,5	K562	blood:
27	chr1:121483052..121485434-chr19:27730501..27733191,4	MCF-7	breast:
28	chr1:149855028..149856935-chr19:27731051..27732710,2	MCF-7	breast:
29	chr1:121483185..121485419-chr19:27730521..27734410,16	K562	blood:
30	chr19:27730503..27732709-chr9:139305201..139307172,2	MCF-7	breast:
31	chr1:121482654..121485417-chr19:27730386..27733214,11	MCF-7	breast:
32	chr19:27731209..27732712-chr3:104107101..104108601,2	MCF-7	breast:
33	chr17:59482833..59484547-chr19:27731694..27733523,2	MCF-7	breast:
34	chr12:34844825..34846346-chr19:27731692..27733219,2	K562	blood:
35	chr19:27730503..27733214-chr19:27735926..27737745,2	K562	blood:
36	chr19:27732230..27732731-chr8:18696335..18696835,2	MCF-7	breast:
37	chr19:27732209..27732712-chr2:133011942..133012867,2	MCF-7	breast:
38	chr12:34844846..34846346-chr19:27731700..27733247,2	MCF-7	breast:
39	chr1:121484536..121485417-chr19:27732233..27733219,3	MCF-7	breast:
40	chr19:27731227..27733512-chr20:55840170..55842696,2	MCF-7	breast:
41	chr1:121482676..121485402-chr19:27730501..27733214,12	K562	blood:
42	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
43	chr19:27732023..27732564-chr2:239212879..239213848,2	MCF-7	breast:
44	chr11:37552196..37553062-chr19:27731523..27732023,2	MCF-7	breast:

No data

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

Extended variants
information (count: 221 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111212083	chr19:27731789-27731790	Inactive region	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs62644685	chr19:27731792-27731793	Inactive region	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs62644686	chr19:27731798-27731799	Inactive region	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs200545452	chr19:27731802-27731803	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs146347562	chr19:27731803-27731804	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs534320564	chr19:27731818-27731819	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs559160115	chr19:27731822-27731823	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs200074653	chr19:27731825-27731826	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs62644687	chr19:27731829-27731830	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs201937721	chr19:27731832-27731833	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs538517471	chr19:27731833-27731834	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs556944805	chr19:27731835-27731836	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs368832971	chr19:27731845-27731846	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs373013544	chr19:27731846-27731847	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs574365223	chr19:27731847-27731848	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs62644688	chr19:27731849-27731850	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs28972293	chr19:27731855-27731856	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs75170018	chr19:27731861-27731862	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs74708532	chr19:27731862-27731863	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs201113033	chr19:27731863-27731864	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs80344683	chr19:27731869-27731870	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs560099668	chr19:27731873-27731874	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs62644690	chr19:27731874-27731875	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs572020125	chr19:27731881-27731882	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs200591406	chr19:27731884-27731885	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs76697671	chr19:27731888-27731889	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs376162603	chr19:27731890-27731891	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs62136066	chr19:27731893-27731894	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs113687444	chr19:27731903-27731904	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs28973108	chr19:27731907-27731908	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs545512712	chr19:27731915-27731916	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs77178151	chr19:27731917-27731918	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs199729327	chr19:27731918-27731919	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs371624874	chr19:27731920-27731921	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs28971692	chr19:27731923-27731924	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs28970521	chr19:27731928-27731929	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs140855707	chr19:27731931-27731932	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs200611392	chr19:27731933-27731934	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs549653010	chr19:27731941-27731942	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs561791467	chr19:27731947-27731948	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs529189918	chr19:27731948-27731949	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs368812348	chr19:27731951-27731952	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs76868088	chr19:27731953-27731954	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs372910388	chr19:27731954-27731955	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs548260356	chr19:27731955-27731956	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs74193731	chr19:27731964-27731965	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs1842866	chr19:27731965-27731966	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs373389987	chr19:27731966-27731967	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs377387209	chr19:27731967-27731968	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs527770008	chr19:27731970-27731971	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	6 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:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27732000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:27731800-27732200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
6	chr19:27731800-27732400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	Dnd41	blood
8	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	HSMM	muscle
9	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	K562	blood
10	chr19:27731800-27732400	Flanking Bivalent TSS/Enh	NHLF	lung
11	chr19:27731800-27732600	ZNF genes & repeats	Right Atrium	heart
12	chr19:27731800-27732600	ZNF genes & repeats	HepG2	liver
13	chr19:27731800-27733000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
14	chr19:27731800-27733000	ZNF genes & repeats	Fetal Kidney	kidney
15	chr19:27731800-27733000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
16	chr19:27731800-27733400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:27731800-27733400	Flanking Bivalent TSS/Enh	Aorta	Aorta
18	chr19:27731800-27733400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
19	chr19:27731800-27733400	ZNF genes & repeats	Right Ventricle	heart
20	chr19:27731800-27733400	Flanking Bivalent TSS/Enh	NH-A	brain
21	chr19:27731800-27733400	ZNF genes & repeats	NHEK	skin
22	chr19:27731800-27733600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
23	chr19:27731800-27733600	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr19:27731800-27733600	Flanking Bivalent TSS/Enh	Gastric	stomach
25	chr19:27731800-27733600	Flanking Bivalent TSS/Enh	Hela-S3	cervix
26	chr19:27731800-27734600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:27731800-27734600	ZNF genes & repeats	Brain Germinal Matrix	brain
28	chr19:27731800-27734600	ZNF genes & repeats	Placenta	Placenta
29	chr19:27731800-27734800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:27731800-27734800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:27731800-27734800	ZNF genes & repeats	Esophagus	oesophagus
32	chr19:27731800-27734800	ZNF genes & repeats	Pancreas	Pancrea
33	chr19:27731800-27734800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
34	chr19:27731800-27734800	ZNF genes & repeats	GM12878-XiMat	blood
35	chr19:27731800-27735000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:27731800-27735000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
37	chr19:27731800-27735000	ZNF genes & repeats	Fetal Brain Female	brain
38	chr19:27731800-27735400	ZNF genes & repeats	Fetal Thymus	thymus
39	chr19:27731800-27736200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr19:27731800-27737000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:27731800-27737000	ZNF genes & repeats	Osteobl	bone
42	chr19:27731800-27738600	ZNF genes & repeats	Thymus	Thymus
43	chr19:27731800-27739000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr19:27731800-27739600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
45	chr19:27731800-27739600	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr19:27731800-27739600	ZNF genes & repeats	Fetal Intestine Large	intestine
47	chr19:27731800-27739600	ZNF genes & repeats	Ovary	ovary
48	chr19:27731800-27739600	ZNF genes & repeats	Spleen	Spleen
49	chr19:27731800-27739800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:27731800-27739800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood

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