Variant report

Variant	esv1836533
Chromosome Location	chr19:27733647-27962953
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:60)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:57931756..57934704-chr19:27735828..27738481,2	MCF-7	breast:
2	chr1:121484705..121485205-chr19:27733910..27734629,2	MCF-7	breast:
3	chr10:42530145..42531061-chr19:27738673..27739367,3	MCF-7	breast:
4	chr1:121483890..121484451-chr19:27736926..27737426,2	MCF-7	breast:
5	chr1:12392654..12393407-chr19:27738850..27739687,2	MCF-7	breast:
6	chr10:42527520..42529802-chr19:27732626..27735592,2	K562	blood:
7	chr1:121483051..121485429-chr19:27736244..27740196,9	MCF-7	breast:
8	chr1:121483957..121484819-chr19:27737979..27738502,3	MCF-7	breast:
9	chr10:42528075..42531081-chr19:27735905..27739791,6	MCF-7	breast:
10	chr19:27733264..27735341-chr5:49544077..49545577,2	MCF-7	breast:
11	chr12:34844445..34846343-chr19:27735903..27737749,2	K562	blood:
12	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:
13	chr18:60172493..60172994-chr19:27739182..27739818,2	MCF-7	breast:
14	chr19:27730503..27733214-chr19:27735926..27737745,2	K562	blood:
15	chr10:42528436..42531081-chr19:27736662..27739367,4	MCF-7	breast:
16	chr1:121483138..121485425-chr19:27735007..27739872,9	MCF-7	breast:
17	chr19:27738271..27740312-chr4:68262912..68265515,2	MCF-7	breast:
18	chr1:121484295..121485024-chr19:27738000..27738548,3	MCF-7	breast:
19	chr10:42529302..42529920-chr19:27734982..27735519,2	MCF-7	breast:
20	chr19:27738500..27739360-chr2:237227769..237228539,2	MCF-7	breast:
21	chr10:42529442..42530392-chr19:27737662..27738480,2	MCF-7	breast:
22	chr19:27731712..27733212-chr19:27736249..27738480,2	MCF-7	breast:
23	chr19:18498589..18499092-chr19:27739098..27739794,2	HCT-116	colon:
24	chr17:58603504..58604171-chr19:27738843..27739764,2	MCF-7	breast:
25	chr10:42529082..42529941-chr19:27738664..27739193,3	MCF-7	breast:
26	chr16:5710936..5711647-chr19:27738832..27739454,2	MCF-7	breast:
27	chr1:121482889..121485426-chr19:27733290..27740540,17	K562	blood:
28	chr10:42528106..42531063-chr19:27736683..27739174,2	K562	blood:
29	chr19:27732167..27734609-chr5:14472438..14475218,2	MCF-7	breast:
30	chr1:244228644..244231049-chr19:27736676..27739352,2	MCF-7	breast:
31	chr10:42532112..42532613-chr19:27734969..27735848,2	MCF-7	breast:
32	chr1:149223688..149224417-chr19:27738499..27739289,2	MCF-7	breast:
33	chr1:121482889..121485426-chr19:27735763..27740540,17	K562	blood:
34	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:
35	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:
36	chr1:121484518..121485402-chr19:27734128..27734629,2	K562	blood:
37	chr19:27731229..27733515-chr19:27737682..27740212,3	MCF-7	breast:
38	chr1:121484242..121485223-chr19:27739792..27740312,2	MCF-7	breast:
39	chr19:27736247..27738846-chr8:34200775..34202275,2	MCF-7	breast:
40	chr10:42529415..42529944-chr19:27739260..27739782,2	MCF-7	breast:
41	chr19:27738249..27739165-chr3:64009126..64009721,2	MCF-7	breast:
42	chr19:27732780..27734287-chr3:119350472..119351972,2	MCF-7	breast:
43	chr16:31225017..31226858-chr19:27739368..27741281,2	MCF-7	breast:
44	chr19:27734776..27735283-chr4:142678250..142679232,2	MCF-7	breast:
45	chr19:27735077..27736730-chr6:26122693..26124685,2	MCF-7	breast:
46	chr17:56707857..56709514-chr19:27731768..27734278,2	MCF-7	breast:
47	chr11:117787369..117787889-chr19:27738686..27739368,2	K562	blood:
48	chr19:18390431..18393009-chr19:27731584..27734229,2	MCF-7	breast:
49	chr13:28193921..28196192-chr19:27738694..27740822,2	MCF-7	breast:
50	chr19:27739276..27740188-chr3:90489068..90489568,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259349	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000186184	chromatin interactions
ENSG00000038382	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000139517	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000267959	chromatin interactions
ENSG00000177238	chromatin interactions
ENSG00000258429	chromatin interactions

Extended variants
information (count: 25045 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:25045 , 50 per page) page: 1 2 3 4 5 6 7 ... 501

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10048556	chr19:27733647-27733648	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs377332761	chr19:27733649-27733650	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs369409416	chr19:27733656-27733657	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs373312598	chr19:27733658-27733659	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs377444056	chr19:27733660-27733661	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs77106705	chr19:27733662-27733663	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs370205354	chr19:27733664-27733665	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs376190510	chr19:27733666-27733667	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs559580344	chr19:27733668-27733669	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs78385904	chr19:27733669-27733670	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs551329571	chr19:27733670-27733671	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs377697183	chr19:27733671-27733672	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs569579155	chr19:27733675-27733676	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs75057443	chr19:27733677-27733678	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs79787279	chr19:27733682-27733683	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs113314396	chr19:27733684-27733685	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs371217231	chr19:27733690-27733691	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs567463634	chr19:27733693-27733694	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs140287574	chr19:27733702-27733703	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs75705599	chr19:27733703-27733704	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs150618843	chr19:27733705-27733706	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs111767158	chr19:27733706-27733707	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs534763356	chr19:27733707-27733708	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs374387626	chr19:27733708-27733709	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs78967676	chr19:27733709-27733710	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs372613962	chr19:27733710-27733711	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs143427301	chr19:27733712-27733713	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs75916973	chr19:27733714-27733715	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs538575234	chr19:27733715-27733716	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs558108675	chr19:27733716-27733717	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs576390695	chr19:27733717-27733718	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs543896700	chr19:27733718-27733719	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs555533578	chr19:27733720-27733721	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs75058639	chr19:27733721-27733722	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs573808184	chr19:27733722-27733723	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs541195363	chr19:27733727-27733728	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs559543494	chr19:27733729-27733730	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs148097494	chr19:27733734-27733735	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs143303858	chr19:27733738-27733739	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs533424668	chr19:27733744-27733745	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs75829471	chr19:27733745-27733746	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs79486761	chr19:27733746-27733747	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs78603666	chr19:27733747-27733748	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs148942876	chr19:27733748-27733749	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs148057504	chr19:27733749-27733750	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs139483891	chr19:27733750-27733751	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs545412453	chr19:27733752-27733753	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs151290520	chr19:27733753-27733754	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs563286201	chr19:27733755-27733756	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs370583038	chr19:27733760-27733761	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 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:924 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27731800-27734600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:27731800-27734600	ZNF genes & repeats	Brain Germinal Matrix	brain
3	chr19:27731800-27734600	ZNF genes & repeats	Placenta	Placenta
4	chr19:27731800-27734800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:27731800-27734800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:27731800-27734800	ZNF genes & repeats	Esophagus	oesophagus
7	chr19:27731800-27734800	ZNF genes & repeats	Pancreas	Pancrea
8	chr19:27731800-27734800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
9	chr19:27731800-27734800	ZNF genes & repeats	GM12878-XiMat	blood
10	chr19:27731800-27735000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:27731800-27735000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
12	chr19:27731800-27735000	ZNF genes & repeats	Fetal Brain Female	brain
13	chr19:27731800-27735400	ZNF genes & repeats	Fetal Thymus	thymus
14	chr19:27731800-27736200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr19:27731800-27737000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:27731800-27737000	ZNF genes & repeats	Osteobl	bone
17	chr19:27731800-27738600	ZNF genes & repeats	Thymus	Thymus
18	chr19:27731800-27739000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr19:27731800-27739600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
20	chr19:27731800-27739600	ZNF genes & repeats	Brain Hippocampus Middle	brain
21	chr19:27731800-27739600	ZNF genes & repeats	Fetal Intestine Large	intestine
22	chr19:27731800-27739600	ZNF genes & repeats	Ovary	ovary
23	chr19:27731800-27739600	ZNF genes & repeats	Spleen	Spleen
24	chr19:27731800-27739800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:27731800-27739800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
26	chr19:27731800-27739800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr19:27731800-27739800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:27731800-27739800	ZNF genes & repeats	Fetal Stomach	stomach
29	chr19:27731800-27740000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr19:27731800-27740000	ZNF genes & repeats	Colonic Mucosa	Colon
31	chr19:27731800-27740200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:27731800-27740400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr19:27731800-27740400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:27731800-27740400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:27731800-27740400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:27731800-27740400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr19:27731800-27740400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
39	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr19:27731800-27740400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
41	chr19:27731800-27740400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
42	chr19:27731800-27740400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
43	chr19:27731800-27740400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
44	chr19:27731800-27740400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:27731800-27740400	ZNF genes & repeats	Fetal Heart	heart
46	chr19:27731800-27740400	ZNF genes & repeats	Fetal Lung	lung
47	chr19:27731800-27740400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
48	chr19:27731800-27740400	ZNF genes & repeats	Small Intestine	intestine
49	chr19:27731800-27740400	ZNF genes & repeats	Stomach Mucosa	stomach
50	chr19:27731800-27740600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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