Variant report

Variant	nsv516096
Chromosome Location	chr1:191819881-191875752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:191845875-191846144	K562	blood:	n/a	n/a
2	ARID3A	chr1:191857928-191858619	K562	blood:	n/a	n/a
3	ARID3A	chr1:191857246-191857609	K562	blood:	n/a	n/a
4	ATF1	chr1:191821456-191821889	K562	blood:	n/a	n/a
5	ATF1	chr1:191845848-191846111	K562	blood:	n/a	n/a
6	ATF1	chr1:191858055-191858697	K562	blood:	n/a	n/a
7	ATF2	chr1:191838896-191839199	GM12878	blood:	n/a	n/a
8	ATF3	chr1:191858154-191858679	K562	blood:	n/a	n/a
9	ATF3	chr1:191820973-191821210	K562	blood:	n/a	n/a
10	BATF	chr1:191838976-191839163	GM12878	blood:	n/a	n/a
11	BHLHE40	chr1:191858061-191858651	K562	blood:	n/a	n/a
12	BHLHE40	chr1:191857301-191857435	K562	blood:	n/a	n/a
13	BHLHE40	chr1:191853684-191853687	K562	blood:	n/a	n/a
14	CBX3	chr1:191861784-191862212	K562	blood:	n/a	n/a
15	CBX3	chr1:191858024-191858814	K562	blood:	n/a	n/a
16	CBX3	chr1:191861885-191862176	K562	blood:	n/a	n/a
17	CCNT2	chr1:191858179-191858676	K562	blood:	n/a	n/a
18	CEBPB	chr1:191845874-191846144	HepG2	liver:	n/a	n/a
19	CEBPB	chr1:191858098-191858539	K562	blood:	n/a	n/a
20	CEBPB	chr1:191864221-191864551	IMR90	lung:	n/a	chr1:191864384-191864395
21	CEBPB	chr1:191834712-191834974	K562	blood:	n/a	chr1:191834839-191834850
22	CEBPB	chr1:191834758-191834987	A549	lung:	n/a	chr1:191834839-191834850
23	CEBPB	chr1:191857259-191857476	HepG2	liver:	n/a	n/a
24	CEBPB	chr1:191864244-191864526	HepG2	liver:	n/a	chr1:191864384-191864395
25	CEBPB	chr1:191834813-191834972	H1-hESC	embryonic stem cell:	n/a	chr1:191834839-191834850
26	CEBPB	chr1:191830317-191830421	K562	blood:	n/a	n/a
27	CEBPB	chr1:191834701-191834983	HepG2	liver:	n/a	chr1:191834839-191834850
28	CEBPB	chr1:191834669-191835023	IMR90	lung:	n/a	chr1:191834839-191834850
29	CEBPB	chr1:191858078-191858708	K562	blood:	n/a	n/a
30	CEBPB	chr1:191864209-191864553	K562	blood:	n/a	chr1:191864384-191864395
31	CEBPB	chr1:191845843-191846117	K562	blood:	n/a	n/a
32	CEBPB	chr1:191858083-191858671	K562	blood:	n/a	n/a
33	CEBPB	chr1:191864254-191864514	A549	lung:	n/a	chr1:191864384-191864395
34	CEBPD	chr1:191858101-191858698	K562	blood:	n/a	n/a
35	CHD2	chr1:191858220-191858531	K562	blood:	n/a	n/a
36	CTCF	chr1:191858163-191858309	LNCaP	prostate:	n/a	chr1:191858226-191858244
37	CTCF	chr1:191858144-191858343	K562	blood:	n/a	chr1:191858226-191858244
38	CTCF	chr1:191858120-191858270	MCF-7	breast:	n/a	chr1:191858226-191858244
39	CTCF	chr1:191858193-191858302	MCF-7	breast:	n/a	chr1:191858226-191858244
40	CTCF	chr1:191829720-191829870	GM12868	blood:	n/a	n/a
41	CTCF	chr1:191868520-191868670	HCPEpiC	choroid plexus:	n/a	chr1:191868645-191868666 chr1:191868643-191868661 chr1:191868648-191868658 chr1:191868644-191868660 chr1:191868646-191868655
42	CTCF	chr1:191868640-191868790	AG04450	lung:	n/a	chr1:191868645-191868666 chr1:191868643-191868661 chr1:191868648-191868658 chr1:191868644-191868660 chr1:191868646-191868655
43	CTCF	chr1:191868660-191868810	AG04450	lung:	n/a	n/a
44	CTCF	chr1:191850857-191850893	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr1:191866820-191866970	GM12872	blood:	n/a	n/a
46	CTCF	chr1:191868420-191868570	BE2_C	brain:	n/a	n/a
47	CTCF	chr1:191858173-191858318	Gliobla	brain:	n/a	chr1:191858226-191858244
48	CTCF	chr1:191858172-191858318	MCF-7	breast:	n/a	chr1:191858226-191858244
49	CTCF	chr1:191858140-191858290	BE2_C	brain:	n/a	chr1:191858226-191858244
50	CTCF	chr1:191830403-191830439	Medullo	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:191858381..191859932-chr1:191864838..191867185,2	K562	blood:
2	chr1:191850241..191852634-chr1:191855846..191858464,3	K562	blood:
3	chr1:191711996..191714385-chr1:191821887..191824152,2	K562	blood:
4	chr1:191844983..191847069-chr1:191850769..191852531,2	K562	blood:
5	chr1:191864173..191866057-chr1:191874341..191876184,2	K562	blood:
6	chr1:191850241..191852634-chr1:191855846..191858464,3	K562	blood:
7	chr1:191836436..191839226-chr1:191842786..191844832,2	K562	blood:
8	chr1:191864173..191866057-chr1:191874341..191876184,2	K562	blood:
9	chr1:191858381..191861097-chr1:191864368..191867185,2	K562	blood:
10	chr1:191815192..191816719-chr1:191819191..191822159,2	K562	blood:
11	chr1:191849617..191851741-chr1:191856964..191859134,3	K562	blood:
12	chr1:191849617..191851741-chr1:191856964..191859134,3	K562	blood:
13	chr1:191854730..191856594-chr1:191856723..191859160,2	K562	blood:
14	chr1:191854730..191856594-chr1:191856723..191859160,2	K562	blood:
15	chr1:191844983..191847069-chr1:191850769..191852531,2	K562	blood:
16	chr1:191802155..191804937-chr1:191853608..191855643,2	K562	blood:
17	chr1:191841073..191843437-chr1:191843646..191846298,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UCHL5-3	chr1:191859195-191859359	XLOC_001132
2	lnc-RGS18-1	chr1:191844625-191844830	XLOC_000507
3	lnc-RGS18-1	chr1:191844625-191844830	ENSG00000228215.2
4	lnc-UCHL5-3	chr1:191827893-191828310	XLOC_001132
5	lnc-UCHL5-3	chr1:191827837-191828310	XLOC_001132
6	lnc-UCHL5-3	chr1:191835950-191836090	XLOC_001132

Variant related genes	Relation type
ENSG00000228215	TF binding region
ENSG00000223344	TF binding region
ENSG00000223344	chromatin interactions
ENSG00000228215	chromatin interactions
PLAG1	miRNA target sites
CCNT2	miRNA target sites

Extended variants
information (count: 1033 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1033 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113567793	chr1:191820658-191820659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2369434	chr1:191820724-191820725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535188427	chr1:191820750-191820751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534511268	chr1:191820818-191820819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554379303	chr1:191820876-191820877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35012436	chr1:191820919-191820920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577544711	chr1:191820929-191820930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545871421	chr1:191820945-191820946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556027296	chr1:191820946-191820947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148413966	chr1:191820950-191820951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142954578	chr1:191820988-191820989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373738618	chr1:191821026-191821027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72729246	chr1:191821041-191821042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527545114	chr1:191821081-191821082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7522511	chr1:191821089-191821090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs182812516	chr1:191821100-191821101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557591751	chr1:191821145-191821146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77368395	chr1:191821165-191821166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532674382	chr1:191821171-191821172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188156631	chr1:191821248-191821249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151117547	chr1:191821251-191821252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140115068	chr1:191821277-191821278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548254593	chr1:191821279-191821280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191699361	chr1:191821289-191821290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534475422	chr1:191821374-191821375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554542762	chr1:191821403-191821404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184664031	chr1:191821432-191821433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541746505	chr1:191821514-191821515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189132638	chr1:191821538-191821539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2185394	chr1:191821564-191821565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs4468226	chr1:191821595-191821596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550055726	chr1:191821634-191821635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149696891	chr1:191821635-191821636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192030616	chr1:191821651-191821652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554911344	chr1:191821709-191821710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563746994	chr1:191821761-191821762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540911730	chr1:191821843-191821844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564079842	chr1:191821848-191821849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185556582	chr1:191821869-191821870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190462061	chr1:191821971-191821972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563514607	chr1:191822008-191822009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181030081	chr1:191822015-191822016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186003453	chr1:191822083-191822084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562050892	chr1:191822153-191822154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377563973	chr1:191822166-191822167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527729829	chr1:191822182-191822183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79523536	chr1:191822206-191822207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369936905	chr1:191822215-191822216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571113015	chr1:191822244-191822245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9427791	chr1:191822249-191822250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191820600-191821800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:191820800-191821600	Enhancers	NH-A	brain
3	chr1:191820800-191822400	Enhancers	K562	blood
4	chr1:191820800-191823400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:191821000-191822200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:191821400-191822000	Enhancers	Dnd41	blood
7	chr1:191821800-191823200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:191827000-191827200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:191829000-191829400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:191839000-191840400	Enhancers	GM12878-XiMat	blood
11	chr1:191840200-191841200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:191844400-191844800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:191845400-191846200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:191851400-191852200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:191851600-191853200	Enhancers	Dnd41	blood
16	chr1:191851800-191852200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:191855600-191858000	Enhancers	Dnd41	blood
18	chr1:191855800-191856000	ZNF genes & repeats	K562	blood
19	chr1:191856000-191857400	Weak transcription	K562	blood
20	chr1:191857400-191859000	Enhancers	K562	blood
21	chr1:191857800-191858200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:191858000-191858200	Enhancers	Ovary	ovary
23	chr1:191858000-191858400	Enhancers	Fetal Stomach	stomach
24	chr1:191858000-191859000	Enhancers	Fetal Lung	lung
25	chr1:191858000-191860000	Flanking Active TSS	Dnd41	blood
26	chr1:191858200-191858400	Flanking Active TSS	Ovary	ovary
27	chr1:191858200-191858600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:191858400-191858600	Active TSS	Ovary	ovary
29	chr1:191858400-191858800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:191859600-191860000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:191860000-191860400	Enhancers	Dnd41	blood
32	chr1:191860400-191860600	Weak transcription	Dnd41	blood
33	chr1:191860600-191860800	ZNF genes & repeats	Dnd41	blood
34	chr1:191864600-191865200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:191864600-191865400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:191864600-191866400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:191864800-191865200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:191864800-191865200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:191865200-191865400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:191865200-191866600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:191865200-191866600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:191866200-191866800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:191866800-191867000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:191870600-191871200	Enhancers	HMEC	breast
45	chr1:191870800-191871200	Enhancers	NHEK	skin
46	chr1:191870800-191871400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:191871000-191871200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:191871200-191877600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:191875000-191875200	Enhancers	Fetal Lung	lung

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