Variant report

Variant	nsv960819
Chromosome Location	chr19:23981095-24012641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:503)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:24006791-24007164	K562	blood:	n/a	n/a
2	BACH1	chr19:24000521-24000697	K562	blood:	n/a	n/a
3	BHLHE40	chr19:24006925-24007160	K562	blood:	n/a	n/a
4	CBX3	chr19:24006670-24007006	K562	blood:	n/a	n/a
5	CBX3	chr19:24006626-24007181	K562	blood:	n/a	n/a
6	CEBPB	chr19:24007084-24007141	K562	blood:	n/a	n/a
7	CEBPB	chr19:24000487-24000738	K562	blood:	n/a	n/a
8	CEBPB	chr19:24004841-24005271	MCF-7	breast:	n/a	n/a
9	CEBPB	chr19:23992206-23992260	K562	blood:	n/a	n/a
10	CEBPB	chr19:24005510-24006011	MCF-7	breast:	n/a	n/a
11	CTCF	chr19:24006820-24006970	BE2_C	brain:	n/a	n/a
12	CTCF	chr19:24006780-24006930	HCT-116	colon:	n/a	n/a
13	CTCF	chr19:24006887-24006956	MCF-7	breast:	n/a	n/a
14	CTCF	chr19:24006820-24006970	GM12870	blood:	n/a	n/a
15	CTCF	chr19:24006872-24006975	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr19:24000420-24000570	GM12870	blood:	n/a	n/a
17	CTCF	chr19:24006895-24006952	A549	lung:	n/a	n/a
18	CTCF	chr19:24006840-24006990	GM12875	blood:	n/a	n/a
19	CTCF	chr19:24000480-24000630	GM12873	blood:	n/a	n/a
20	CTCF	chr19:24000418-24000624	ProgFib	skin:	n/a	n/a
21	CTCF	chr19:24000420-24000570	GM12864	blood:	n/a	n/a
22	CTCF	chr19:24000440-24000590	NHEK	skin:	n/a	n/a
23	CTCF	chr19:24000440-24000590	AoAF	blood vessel:	n/a	n/a
24	CTCF	chr19:24000480-24000630	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr19:24006873-24006877	GM19240	blood:	n/a	n/a
26	CTCF	chr19:24000480-24000593	GM13976	blood:	n/a	n/a
27	CTCF	chr19:24000432-24000626	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr19:24006820-24006970	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr19:24006828-24007027	LNCaP	prostate:	n/a	n/a
30	CTCF	chr19:24000500-24000650	AG10803	skin:	n/a	n/a
31	CTCF	chr19:24006709-24007021	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr19:24006849-24007034	Lung_OC	lung:	n/a	n/a
33	CTCF	chr19:24006840-24006990	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr19:24006600-24006750	NHEK	skin:	n/a	n/a
35	CTCF	chr19:24000406-24000645	GM12878	blood:	n/a	n/a
36	CTCF	chr19:24006732-24007108	K562	blood:	n/a	n/a
37	CTCF	chr19:24006840-24006990	HVMF	connective:	n/a	n/a
38	CTCF	chr19:24000420-24000570	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr19:24000300-24000450	HAc	cerebellar:	n/a	n/a
40	CTCF	chr19:24006840-24006990	HEK293	kidney:	n/a	n/a
41	CTCF	chr19:24000405-24000644	NHEK	skin:	n/a	n/a
42	CTCF	chr19:24000480-24000630	Caco-2	colon:	n/a	n/a
43	CTCF	chr19:24000440-24000590	HMF	breast:	n/a	n/a
44	CTCF	chr19:24006855-24006962	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr19:24006845-24006994	GM12891	blood:	n/a	n/a
46	CTCF	chr19:24000364-24000670	K562	blood:	n/a	n/a
47	CTCF	chr19:24000409-24000640	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:24006820-24006970	GM12874	blood:	n/a	n/a
49	CTCF	chr19:24006900-24007050	GM12873	blood:	n/a	n/a
50	CTCF	chr19:24000440-24000590	GM06990	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:24000616..24002168-chr19:24002694..24005183,2	MCF-7	breast:
2	chr19:24000616..24002168-chr19:24002694..24005183,2	MCF-7	breast:
3	chr19:23990207..23992454-chr19:24002314..24004892,2	K562	blood:
4	chr19:23990207..23992454-chr19:24002314..24004892,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPSAP58-2	chr19:23991521-23991616	NONHSAT063933
2	lnc-RPSAP58-2	chr19:23990628-23990741	NONHSAT063935
3	lnc-RPSAP58-2	chr19:23991521-23992317	NONHSAT063935
4	lnc-RPSAP58-2	chr19:23990628-23990741	NONHSAT063933
5	lnc-ZNF681-3	chr19:23981726-23982279	NONHSAT063937

No data

Variant related genes	Relation type
RPSAP58	TF binding region
ENSG00000269662	TF binding region

Extended variants
information (count: 1302 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:1302 , 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	rs558467785	chr19:23981137-23981138	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6417224	chr19:23981183-23981184	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558361683	chr19:23981189-23981190	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6511558	chr19:23981217-23981218	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79799398	chr19:23981243-23981244	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184359410	chr19:23981274-23981275	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7256853	chr19:23981322-23981323	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs6511559	chr19:23981392-23981393	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533160946	chr19:23981403-23981404	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545030706	chr19:23981409-23981410	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12985095	chr19:23981436-23981437	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs118115015	chr19:23981447-23981448	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567879531	chr19:23981452-23981453	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549665405	chr19:23981541-23981542	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567909131	chr19:23981619-23981620	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73517546	chr19:23981633-23981634	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141544017	chr19:23981655-23981656	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs386808142	chr19:23981656-23981657	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373748478	chr19:23981658-23981659	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114666968	chr19:23981685-23981686	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188890703	chr19:23981688-23981689	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80193330	chr19:23981708-23981709	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372304418	chr19:23981711-23981712	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182024220	chr19:23981721-23981722	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557752780	chr19:23981749-23981750	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs141783619	chr19:23981769-23981770	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs538308195	chr19:23981783-23981784	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs537694992	chr19:23981811-23981812	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs556143383	chr19:23981821-23981822	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs7246073	chr19:23981903-23981904	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146263499	chr19:23981918-23981919	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs553172764	chr19:23981931-23981932	Weak transcription ZNF genes & repeats Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs139436462	chr19:23982001-23982002	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs545105518	chr19:23982004-23982005	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs563293241	chr19:23982006-23982007	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs187100118	chr19:23982032-23982033	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs530857591	chr19:23982050-23982051	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs543301420	chr19:23982070-23982071	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs149338730	chr19:23982110-23982111	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs529055219	chr19:23982145-23982146	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs547540074	chr19:23982165-23982166	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs189588220	chr19:23982208-23982209	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs533019278	chr19:23982233-23982234	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs144685008	chr19:23982238-23982239	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs569666454	chr19:23982261-23982262	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs537085873	chr19:23982275-23982276	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs148519864	chr19:23982332-23982333	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs111687448	chr19:23982368-23982369	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12608740	chr19:23982380-23982381	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553488542	chr19:23982385-23982386	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
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	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23965600-24000400	Weak transcription	Pancreas	Pancrea
2	chr19:23968600-23982400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:23971600-23981200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:23972400-23990000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr19:23972600-23989800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr19:23972800-23998800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:23973800-23990200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:23973800-23993400	Weak transcription	Aorta	Aorta
9	chr19:23973800-24000400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:23973800-24001200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:23974200-23984000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:23974200-23987400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:23975200-23981600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:23976000-23981600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr19:23976600-23982000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr19:23977000-23998000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:23977400-23982000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:23978800-23984800	Weak transcription	Fetal Lung	lung
19	chr19:23979200-23982200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:23980000-24000600	Weak transcription	K562	blood
21	chr19:23980200-23983800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:23980200-23994800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:23980400-23982800	Enhancers	Fetal Heart	heart
24	chr19:23980400-23985600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:23980600-23981600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:23981000-23982000	Enhancers	Primary T cells from cord blood	blood
27	chr19:23981000-23982000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:23981000-23982000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:23981000-23982000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr19:23981000-23982000	Enhancers	Dnd41	blood
31	chr19:23981200-23982200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr19:23981400-23982400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr19:23981600-23982000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:23981600-23982000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr19:23981600-23982000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr19:23981600-23982000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr19:23981600-23982000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr19:23981600-23982000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:23981600-23982000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr19:23981600-23982000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr19:23981800-23982200	Enhancers	Primary B cells from cord blood	blood
42	chr19:23981800-23982200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:23981800-23982400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr19:23982000-23982200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:23982000-23982200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:23982000-23982200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr19:23982000-23982400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr19:23982000-23982400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr19:23982000-23982600	Active TSS	Primary T cells from cord blood	blood
50	chr19:23982000-23982600	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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