Variant report

Variant	nsv911418
Chromosome Location	chr19:21390608-21454672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:307)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:21392842-21393238	HepG2	liver:	n/a	n/a
2	ATF2	chr19:21405239-21405611	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr19:21405281-21405550	H1-hESC	embryonic stem cell:	n/a	n/a
4	CBX3	chr19:21412789-21413093	K562	blood:	n/a	n/a
5	CBX3	chr19:21412796-21413087	K562	blood:	n/a	n/a
6	CEBPB	chr19:21421599-21421797	HepG2	liver:	n/a	chr19:21421653-21421664
7	CEBPB	chr19:21412935-21412982	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr19:21421511-21421818	A549	lung:	n/a	chr19:21421653-21421664
9	CEBPB	chr19:21421623-21421728	K562	blood:	n/a	chr19:21421653-21421664
10	CEBPB	chr19:21394177-21394275	A549	lung:	n/a	chr19:21394220-21394233
11	CHD2	chr19:21405273-21405553	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr19:21439660-21439810	AG09309	skin:	n/a	n/a
13	CTCF	chr19:21392780-21392797	K562	blood:	n/a	n/a
14	CTCF	chr19:21439640-21439790	HEEpiC	esophagus:	n/a	n/a
15	CTCF	chr19:21439520-21439915	K562	blood:	n/a	n/a
16	CTCF	chr19:21439640-21439790	AG09309	skin:	n/a	n/a
17	CTCF	chr19:21439613-21439826	LNCaP	prostate:	n/a	n/a
18	CTCF	chr19:21439522-21439926	T-47D	breast:	n/a	n/a
19	CTCF	chr19:21439660-21439810	HCFaa	heart:	n/a	n/a
20	CTCF	chr19:21449991-21450006	GM20000	blood:	n/a	n/a
21	CTCF	chr19:21439600-21439750	HCT-116	colon:	n/a	n/a
22	CTCF	chr19:21439640-21439790	A549	lung:	n/a	n/a
23	CTCF	chr19:21439600-21439750	HEK293	kidney:	n/a	n/a
24	CTCF	chr19:21439660-21439810	HEK293	kidney:	n/a	n/a
25	CTCF	chr19:21439516-21439910	GM12878	blood:	n/a	n/a
26	CTCF	chr19:21439635-21439831	GM13977	blood:	n/a	n/a
27	CTCF	chr19:21420104-21420131	GM20000	blood:	n/a	n/a
28	CTCF	chr19:21439620-21439770	HVMF	connective:	n/a	n/a
29	CTCF	chr19:21439611-21439867	HepG2	liver:	n/a	n/a
30	CTCF	chr19:21439626-21439792	GM12878	blood:	n/a	n/a
31	CTCF	chr19:21393480-21393630	WERI-Rb-1	eye:	n/a	chr19:21393564-21393577
32	CTCF	chr19:21439680-21439830	GM12878	blood:	n/a	n/a
33	CTCF	chr19:21439414-21439946	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr19:21439680-21439830	NHEK	skin:	n/a	n/a
35	CTCF	chr19:21439660-21439810	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr19:21439640-21439790	K562	blood:	n/a	n/a
37	CTCF	chr19:21439518-21439966	MCF-7	breast:	n/a	n/a
38	CTCF	chr19:21439680-21439830	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr19:21439680-21439830	GM06990	blood:	n/a	n/a
40	CTCF	chr19:21439680-21439830	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr19:21439472-21439939	A549	lung:	n/a	n/a
42	CTCF	chr19:21439640-21439790	AG10803	skin:	n/a	n/a
43	CTCF	chr19:21439614-21439844	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:21439660-21439810	GM12873	blood:	n/a	n/a
45	CTCF	chr19:21439647-21439807	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr19:21439369-21440081	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr19:21439640-21439790	HMF	breast:	n/a	n/a
48	CTCF	chr19:21436894-21436899	GM10248	blood:	n/a	n/a
49	CTCF	chr19:21439640-21439790	Caco-2	colon:	n/a	n/a
50	CTCF	chr19:21439475-21439869	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21392274..21393855-chr19:21395475..21398127,2	K562	blood:
2	chr19:21392274..21393855-chr19:21395475..21398127,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF708-9	chr19:21427914-21428043	NONHSAT063692
2	lnc-ZNF708-9	chr19:21407900-21407987	NONHSAT063692
3	lnc-ZNF708-10	chr19:21404447-21405548	NONHSAT063691
4	lnc-ZNF708-9	chr19:21427315-21427409	NONHSAT063692

No data

Variant related genes	Relation type
RPL36AP51	TF binding region
ENSG00000268892	TF binding region
ENSG00000269839	TF binding region

Extended variants
information (count: 2569 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:2569 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7254835	chr19:21390608-21390609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543195405	chr19:21390662-21390663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7254957	chr19:21390724-21390725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs201097738	chr19:21390783-21390784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190487972	chr19:21390784-21390785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374217226	chr19:21390785-21390786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530524744	chr19:21390855-21390856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1781861	chr19:21390868-21390869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs367610454	chr19:21390903-21390904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563842700	chr19:21390961-21390962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532824778	chr19:21391016-21391017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552525143	chr19:21391061-21391062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150788092	chr19:21391062-21391063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528602461	chr19:21391103-21391104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113461649	chr19:21391118-21391119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77216199	chr19:21391121-21391122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576936430	chr19:21391161-21391162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77807018	chr19:21391164-21391165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368630960	chr19:21391180-21391181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556923594	chr19:21391197-21391198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386807756	chr19:21391206-21391207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539718704	chr19:21391212-21391213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12976375	chr19:21391221-21391222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs79613413	chr19:21391340-21391341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1781860	chr19:21391358-21391359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs529867301	chr19:21391388-21391389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138097957	chr19:21391417-21391418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544258089	chr19:21391460-21391461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149503836	chr19:21391475-21391476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538973784	chr19:21391476-21391477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549462871	chr19:21391529-21391530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546465563	chr19:21391587-21391588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183183530	chr19:21391593-21391594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs29699	chr19:21391605-21391606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs187888358	chr19:21391607-21391608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144072878	chr19:21391609-21391610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191151423	chr19:21391621-21391622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372579458	chr19:21391662-21391663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377085933	chr19:21391743-21391744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550748462	chr19:21391757-21391758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9749536	chr19:21391758-21391759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7258493	chr19:21391808-21391809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182240209	chr19:21391818-21391819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143317847	chr19:21391842-21391843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9749580	chr19:21391844-21391845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs201895272	chr19:21391857-21391858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371826221	chr19:21391858-21391859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71176830	chr19:21391877-21391878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187739167	chr19:21391908-21391909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575439426	chr19:21391911-21391912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21389600-21397600	Weak transcription	Ovary	ovary
2	chr19:21392800-21393000	Enhancers	HepG2	liver
3	chr19:21392800-21393600	Enhancers	Pancreas	Pancrea
4	chr19:21393000-21393600	Bivalent Enhancer	HepG2	liver
5	chr19:21393200-21393600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:21393200-21393600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:21393200-21394200	Enhancers	Stomach Mucosa	stomach
8	chr19:21394200-21394400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:21396600-21397000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr19:21397000-21397600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:21397200-21398200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr19:21397600-21397800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr19:21397600-21398000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:21397600-21398000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr19:21397600-21398200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:21397600-21398200	Enhancers	Ovary	ovary
17	chr19:21397600-21399400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr19:21398000-21399000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:21398000-21404000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:21398200-21402200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:21399000-21399200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr19:21399200-21399400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr19:21399200-21399400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr19:21399200-21399600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr19:21399400-21400000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr19:21399400-21403600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr19:21400000-21403800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr19:21401600-21401800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:21401800-21405600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:21402200-21404400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:21403200-21404600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr19:21403600-21405400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr19:21403800-21404000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr19:21403800-21405000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:21403800-21405400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr19:21404000-21404200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr19:21404000-21404200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr19:21404200-21404400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr19:21404200-21404600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr19:21404400-21404600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr19:21404400-21405200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:21404400-21406800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:21404600-21405200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr19:21404600-21405600	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr19:21405400-21407800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr19:21405600-21405800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:21405800-21406800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr19:21405800-21430000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:21406800-21407000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:21406800-21407000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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