Variant report

Variant	nsv960847
Chromosome Location	chr19:42319253-42339596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:244)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr19:42325165-42325494	K562	blood:	n/a	n/a
2	BHLHE40	chr19:42325237-42325429	K562	blood:	n/a	n/a
3	CEBPB	chr19:42325221-42325483	K562	blood:	n/a	n/a
4	CEBPB	chr19:42325240-42325440	HepG2	liver:	n/a	n/a
5	CEBPB	chr19:42325179-42325498	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr19:42325201-42325453	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr19:42325219-42325505	A549	lung:	n/a	n/a
8	CTCF	chr19:42325280-42325430	HVMF	connective:	n/a	n/a
9	CTCF	chr19:42325193-42325511	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr19:42325128-42325504	K562	blood:	n/a	n/a
11	CTCF	chr19:42325280-42325430	HFF-Myc	foreskin:	n/a	n/a
12	CTCF	chr19:42325240-42325390	HRE	kidney:	n/a	n/a
13	CTCF	chr19:42325202-42325470	LNCaP	prostate:	n/a	n/a
14	CTCF	chr19:42325280-42325430	BJ	skin:	n/a	n/a
15	CTCF	chr19:42325280-42325430	GM12871	blood:	n/a	n/a
16	CTCF	chr19:42325280-42325430	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr19:42325208-42325437	MCF-7	breast:	n/a	n/a
18	CTCF	chr19:42325320-42325470	WI-38	lung:	n/a	n/a
19	CTCF	chr19:42324920-42325070	HPF	lung:	n/a	n/a
20	CTCF	chr19:42325280-42325430	MCF-7	breast:	n/a	n/a
21	CTCF	chr19:42325260-42325410	BE2_C	brain:	n/a	n/a
22	CTCF	chr19:42324820-42324970	GM06990	blood:	n/a	n/a
23	CTCF	chr19:42325300-42325450	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr19:42325300-42325450	AG09319	gingival:	n/a	n/a
25	CTCF	chr19:42325300-42325450	HPF	lung:	n/a	n/a
26	CTCF	chr19:42325208-42325459	GM19240	blood:	n/a	n/a
27	CTCF	chr19:42325260-42325410	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr19:42325069-42325617	MCF-7	breast:	n/a	n/a
29	CTCF	chr19:42325680-42325830	NHEK	skin:	n/a	n/a
30	CTCF	chr19:42325280-42325430	HepG2	liver:	n/a	n/a
31	CTCF	chr19:42325380-42325530	HCM	heart:	n/a	n/a
32	CTCF	chr19:42325260-42325410	NHLF	lung:	n/a	n/a
33	CTCF	chr19:42325280-42325430	GM12868	blood:	n/a	n/a
34	CTCF	chr19:42325280-42325430	NHDF-neo	bronchial:	n/a	n/a
35	CTCF	chr19:42325202-42325453	A549	lung:	n/a	n/a
36	CTCF	chr19:42325236-42325477	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr19:42325260-42325410	HMEC	breast:	n/a	n/a
38	CTCF	chr19:42325280-42325430	AG04449	skin:	n/a	n/a
39	CTCF	chr19:42325280-42325430	AG10803	skin:	n/a	n/a
40	CTCF	chr19:42325236-42325480	GM13977	blood:	n/a	n/a
41	CTCF	chr19:42325221-42325483	Medullo	brain:	n/a	n/a
42	CTCF	chr19:42325242-42325498	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr19:42334189-42334257	GM10248	blood:	n/a	n/a
44	CTCF	chr19:42325127-42325521	A549	lung:	n/a	n/a
45	CTCF	chr19:42325300-42325450	GM12866	blood:	n/a	n/a
46	CTCF	chr19:42325162-42325540	HepG2	liver:	n/a	n/a
47	CTCF	chr19:42325239-42325435	T-47D	breast:	n/a	n/a
48	CTCF	chr19:42325320-42325470	AG09319	gingival:	n/a	n/a
49	CTCF	chr19:42325280-42325430	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr19:42325280-42325430	GM12875	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42296776..42297718-chr19:42324905..42325767,5	MCF-7	breast:
2	chr19:42333324..42335444-chr19:42364379..42366261,2	K562	blood:
3	chr19:42337957..42339654-chr19:42347181..42349123,2	K562	blood:
4	chr19:42209971..42212433-chr19:42322719..42325343,2	MCF-7	breast:
5	chr19:42286292..42289272-chr19:42318384..42321210,2	K562	blood:
6	chr19:42314336..42316097-chr19:42330529..42333145,2	K562	blood:
7	chr19:42256322..42257851-chr19:42324890..42325806,7	K562	blood:
8	chr19:42313100..42315480-chr19:42318084..42320585,2	K562	blood:
9	chr19:42299320..42300170-chr19:42324641..42325374,2	K562	blood:
10	chr19:42333324..42335444-chr19:42363709..42366261,3	K562	blood:
11	chr19:42313500..42317243-chr19:42321753..42325232,3	K562	blood:
12	chr19:42296886..42297641-chr19:42324359..42325844,5	MCF-7	breast:
13	chr19:42210736..42211244-chr19:42324895..42325690,2	MCF-7	breast:
14	chr19:42337138..42340110-chr19:42342013..42344959,2	MCF-7	breast:
15	chr19:42324823..42325616-chr19:42455708..42456330,2	K562	blood:
16	chr19:42296738..42297698-chr19:42324856..42325859,7	K562	blood:
17	chr19:42294562..42295498-chr19:42324919..42325811,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYPD4-1	chr19:42337740-42340005	ENSG00000267839.1

No data

Variant related genes	Relation type
HNRNPA1P52	TF binding region
ENSG00000007306	chromatin interactions
ENSG00000183103	chromatin interactions
ENSG00000142025	chromatin interactions
ENSG00000105372	chromatin interactions

Extended variants
information (count: 404 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191707396	chr19:42319347-42319348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183096248	chr19:42319402-42319403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564943222	chr19:42319475-42319476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188375940	chr19:42319484-42319485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569077211	chr19:42319532-42319533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572157825	chr19:42319542-42319543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6508998	chr19:42319560-42319561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs566671674	chr19:42319561-42319562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374287819	chr19:42319594-42319595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367970448	chr19:42319606-42319607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78214518	chr19:42319608-42319609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549100403	chr19:42319620-42319621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529921971	chr19:42319637-42319638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191122925	chr19:42319651-42319652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549822622	chr19:42319660-42319661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149813980	chr19:42319684-42319685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540134542	chr19:42319815-42319816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587684403	chr19:42319841-42319842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs398079885	chr19:42319850-42319851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79953418	chr19:42319851-42319852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79076577	chr19:42319852-42319853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144734041	chr19:42319858-42319859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533924481	chr19:42319910-42319911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534026525	chr19:42319919-42319920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561562603	chr19:42319952-42319953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573677601	chr19:42319957-42319958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576972674	chr19:42319985-42319986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544174440	chr19:42319999-42320000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148546142	chr19:42320022-42320023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577476180	chr19:42320031-42320032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142865925	chr19:42320106-42320107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530506607	chr19:42320107-42320108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527513211	chr19:42320124-42320125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548779719	chr19:42320180-42320181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575063506	chr19:42320189-42320190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542486272	chr19:42320193-42320194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560331648	chr19:42320221-42320222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549755687	chr19:42320255-42320256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527675930	chr19:42320311-42320312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571266036	chr19:42320345-42320346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552110182	chr19:42320346-42320347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539741429	chr19:42320391-42320392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4480913	chr19:42320394-42320395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs375130252	chr19:42320408-42320409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150561351	chr19:42320409-42320410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534433718	chr19:42320410-42320411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141701852	chr19:42320412-42320413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555563756	chr19:42320413-42320414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532115292	chr19:42320421-42320422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537961116	chr19:42320422-42320423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42318200-42319600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:42318600-42319400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:42318600-42319800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr19:42318800-42319400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr19:42318800-42319600	Enhancers	Primary hematopoietic stem cells	blood
6	chr19:42319000-42322800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:42322800-42324600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr19:42323200-42323800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr19:42323200-42323800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr19:42324600-42325200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
11	chr19:42325000-42325200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
12	chr19:42325200-42325400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr19:42325200-42325400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:42325200-42325400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr19:42325200-42325600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr19:42325400-42325600	Bivalent Enhancer	A549	lung

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