Variant report

Variant	nsv1064389
Chromosome Location	chr19:56744629-56768232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:618)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:56765176-56765431	K562	blood:	n/a	n/a
2	ARID3A	chr19:56760286-56760731	K562	blood:	n/a	n/a
3	ATF1	chr19:56760362-56760671	K562	blood:	n/a	n/a
4	BACH1	chr19:56764319-56764415	K562	blood:	n/a	n/a
5	BATF	chr19:56745875-56746197	GM12878	blood:	n/a	n/a
6	BHLHE40	chr19:56760454-56760539	K562	blood:	n/a	n/a
7	BHLHE40	chr19:56764145-56764486	K562	blood:	n/a	chr19:56764224-56764240
8	BRCA1	chr19:56745473-56745601	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr19:56764077-56764484	K562	blood:	n/a	n/a
10	CBX3	chr19:56764011-56764558	K562	blood:	n/a	n/a
11	CCNT2	chr19:56760428-56760663	K562	blood:	n/a	n/a
12	CEBPB	chr19:56760261-56760657	K562	blood:	n/a	chr19:56760446-56760457
13	CEBPB	chr19:56760233-56760622	K562	blood:	n/a	chr19:56760446-56760457
14	CEBPB	chr19:56764258-56764496	K562	blood:	n/a	n/a
15	CEBPD	chr19:56760271-56760770	K562	blood:	n/a	n/a
16	CEBPD	chr19:56760163-56760766	K562	blood:	n/a	n/a
17	CHD2	chr19:56764167-56764405	K562	blood:	n/a	n/a
18	CTCF	chr19:56764280-56764430	HCT-116	colon:	n/a	n/a
19	CTCF	chr19:56757175-56757458	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr19:56765160-56765310	GM12878	blood:	n/a	n/a
21	CTCF	chr19:56764320-56764470	HCT-116	colon:	n/a	n/a
22	CTCF	chr19:56765280-56765430	NHEK	skin:	n/a	n/a
23	CTCF	chr19:56765209-56765397	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr19:56765260-56765410	GM12864	blood:	n/a	n/a
25	CTCF	chr19:56757080-56757230	HEK293	kidney:	n/a	n/a
26	CTCF	chr19:56764820-56764970	HEK293	kidney:	n/a	n/a
27	CTCF	chr19:56765182-56765394	GM13977	blood:	n/a	n/a
28	CTCF	chr19:56764660-56764810	AG04450	lung:	n/a	n/a
29	CTCF	chr19:56757313-56757393	GM19239	blood:	n/a	n/a
30	CTCF	chr19:56764280-56764430	GM12869	blood:	n/a	n/a
31	CTCF	chr19:56764800-56764950	GM12865	blood:	n/a	n/a
32	CTCF	chr19:56764280-56764430	HMF	breast:	n/a	n/a
33	CTCF	chr19:56764174-56764558	IMR90	lung:	n/a	chr19:56764225-56764238
34	CTCF	chr19:56764212-56764517	GM12891	blood:	n/a	chr19:56764225-56764238
35	CTCF	chr19:56765097-56765444	A549	lung:	n/a	n/a
36	CTCF	chr19:56764320-56764470	BE2_C	brain:	n/a	n/a
37	CTCF	chr19:56763997-56764675	HCT-116	colon:	n/a	chr19:56764225-56764238
38	CTCF	chr19:56764940-56765090	AG09319	gingival:	n/a	n/a
39	CTCF	chr19:56764260-56764410	GM12864	blood:	n/a	n/a
40	CTCF	chr19:56764300-56764450	AG09319	gingival:	n/a	n/a
41	CTCF	chr19:56757190-56757458	K562	blood:	n/a	n/a
42	CTCF	chr19:56764272-56764440	A549	lung:	n/a	n/a
43	CTCF	chr19:56764300-56764450	WERI-Rb-1	eye:	n/a	n/a
44	CTCF	chr19:56764800-56764950	HVMF	connective:	n/a	n/a
45	CTCF	chr19:56757292-56757382	GM19240	blood:	n/a	n/a
46	CTCF	chr19:56765280-56765430	HCT-116	colon:	n/a	n/a
47	CTCF	chr19:56751780-56751930	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr19:56757314-56757387	GM10266	blood:	n/a	n/a
49	CTCF	chr19:56765104-56765489	A549	lung:	n/a	n/a
50	CTCF	chr19:56764720-56764870	K562	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56631229..56633438-chr19:56759454..56761104,2	K562	blood:
2	chr19:56592228..56593017-chr19:56764764..56765328,2	K562	blood:
3	chr19:56577493..56578448-chr19:56763612..56764760,5	MCF-7	breast:
4	chr19:56764089..56764882-chr2:69533751..69534360,2	K562	blood:
5	chr19:56764606..56765477-chr19:56844677..56845421,4	MCF-7	breast:
6	chr19:56763438..56764980-chr19:56767122..56769734,2	K562	blood:
7	chr19:56577493..56578453-chr19:56763955..56765293,5	K562	blood:
8	chr19:56764440..56765781-chr19:56844595..56845562,7	MCF-7	breast:
9	chr19:56153237..56155682-chr19:56762217..56764183,2	K562	blood:
10	chr19:56764814..56765752-chr19:56820274..56821276,4	K562	blood:
11	chr19:56750344..56752392-chr19:56783866..56786080,2	K562	blood:
12	chr19:56763438..56764980-chr19:56767122..56769734,2	K562	blood:
13	chr19:56764916..56765950-chr19:56820818..56821640,4	MCF-7	breast:
14	chr19:56764795..56766031-chr19:56844616..56845643,6	K562	blood:
15	chr19:56587441..56588336-chr19:56763861..56764794,5	MCF-7	breast:
16	chr19:56666246..56666790-chr19:56764150..56764947,2	K562	blood:
17	chr19:56616218..56617192-chr19:56763915..56764470,3	MCF-7	breast:
18	chr19:56760039..56762057-chr19:56831322..56833020,2	K562	blood:
19	chr19:56167793..56169420-chr19:56762867..56764897,2	K562	blood:
20	chr19:56766124..56767037-chr19:56820605..56821442,2	MCF-7	breast:
21	chr19:56591684..56592579-chr19:56763878..56764497,2	K562	blood:
22	chr19:56764396..56765751-chr19:56820601..56821654,11	MCF-7	breast:
23	chr19:56763855..56765502-chr19:56825187..56827361,2	K562	blood:

No data

Variant related genes	Relation type
ZSCAN5D	TF binding region
ZSCAN5A	TF binding region
ENSG00000131848	chromatin interactions
ENSG00000213015	chromatin interactions
ENSG00000171425	chromatin interactions
ENSG00000142409	chromatin interactions
ENSG00000267710	chromatin interactions
ENSG00000267549	chromatin interactions
ENSG00000223060	chromatin interactions
ENSG00000267522	chromatin interactions

Extended variants
information (count: 1319 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1319 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73067870	chr19:56744689-56744690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562897996	chr19:56744718-56744719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201078218	chr19:56744742-56744743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552054631	chr19:56744749-56744750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142208609	chr19:56744752-56744753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544142349	chr19:56744783-56744784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561243534	chr19:56744799-56744800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151230715	chr19:56744819-56744820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3745830	chr19:56744823-56744824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73934781	chr19:56744859-56744860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369076545	chr19:56744861-56744862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554902076	chr19:56744867-56744868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551877764	chr19:56744923-56744924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35551923	chr19:56744982-56744983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574826451	chr19:56744984-56744985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62122497	chr19:56744998-56744999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73934782	chr19:56745005-56745006	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537458423	chr19:56745010-56745011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554607166	chr19:56745027-56745028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142075867	chr19:56745050-56745051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150125069	chr19:56745075-56745076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34015934	chr19:56745089-56745090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77069682	chr19:56745111-56745112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554378645	chr19:56745172-56745173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577388755	chr19:56745175-56745176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577239327	chr19:56745219-56745220	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs539911371	chr19:56745270-56745271	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111331552	chr19:56745284-56745285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556708039	chr19:56745317-56745318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs2018685	chr19:56745338-56745339	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542207302	chr19:56745409-56745410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs751631	chr19:56745435-56745436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs73067881	chr19:56745436-56745437	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374895187	chr19:56745441-56745442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540034752	chr19:56745456-56745457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs892180	chr19:56745504-56745505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs873732	chr19:56745520-56745521	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs873733	chr19:56745569-56745570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs114212060	chr19:56745581-56745582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531205120	chr19:56745592-56745593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548210254	chr19:56745612-56745613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568643805	chr19:56745614-56745615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369415625	chr19:56745644-56745645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184634417	chr19:56745662-56745663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145461158	chr19:56745691-56745692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571022417	chr19:56745738-56745739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540044905	chr19:56745746-56745747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2018863	chr19:56745782-56745783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs188249828	chr19:56745796-56745797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532047846	chr19:56745828-56745829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56729200-56803000	Weak transcription	Pancreas	Pancrea
2	chr19:56734600-56756400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:56735200-56749200	Weak transcription	Spleen	Spleen
4	chr19:56735400-56774400	Weak transcription	Primary T cells from cord blood	blood
5	chr19:56744800-56745200	Weak transcription	Aorta	Aorta
6	chr19:56745200-56745400	ZNF genes & repeats	Aorta	Aorta
7	chr19:56747600-56781800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:56749600-56750000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr19:56750800-56751000	Active TSS	Lung	lung
10	chr19:56751000-56776400	Weak transcription	Lung	lung
11	chr19:56752800-56758600	Weak transcription	Hela-S3	cervix
12	chr19:56753000-56809000	Weak transcription	Gastric	stomach
13	chr19:56755000-56755400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:56755400-56756400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:56756200-56756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:56756400-56756600	Enhancers	HSMM	muscle
17	chr19:56756400-56757000	Enhancers	HSMMtube	muscle
18	chr19:56756400-56757200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:56756400-56757200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr19:56756400-56757600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:56756600-56757000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr19:56756600-56757000	Flanking Active TSS	HSMM	muscle
23	chr19:56756600-56757000	Enhancers	NH-A	brain
24	chr19:56756600-56757200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr19:56756600-56757200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:56756600-56757200	Enhancers	HMEC	breast
27	chr19:56756600-56757200	Enhancers	NHEK	skin
28	chr19:56756600-56757200	Enhancers	Osteobl	bone
29	chr19:56756600-56757400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:56756800-56757800	Enhancers	K562	blood
31	chr19:56757000-56757200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:56757000-56757400	Enhancers	HSMM	muscle
33	chr19:56757000-56763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:56757800-56760000	Weak transcription	K562	blood
35	chr19:56760000-56760600	Enhancers	K562	blood
36	chr19:56760600-56761000	Flanking Active TSS	K562	blood
37	chr19:56761000-56762000	Enhancers	K562	blood
38	chr19:56761200-56761400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr19:56761400-56764200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr19:56762000-56763600	Weak transcription	K562	blood
41	chr19:56763600-56764200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:56763600-56764200	ZNF genes & repeats	A549	lung
43	chr19:56763600-56764600	Enhancers	K562	blood
44	chr19:56763800-56764000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:56763800-56764600	Enhancers	Spleen	Spleen
46	chr19:56764000-56764200	Active TSS	Stomach Smooth Muscle	stomach
47	chr19:56764000-56764400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:56764000-56764400	Enhancers	Fetal Muscle Trunk	muscle
49	chr19:56764000-56764400	Enhancers	Placenta	Placenta
50	chr19:56764000-56764400	Enhancers	Stomach Mucosa	stomach

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