Variant report

Variant	nsv548614
Chromosome Location	chr1:191836316-191868441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:188)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:188 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:191857246-191857609	K562	blood:	n/a	n/a
2	ARID3A	chr1:191845875-191846144	K562	blood:	n/a	n/a
3	ARID3A	chr1:191857928-191858619	K562	blood:	n/a	n/a
4	ATF1	chr1:191858055-191858697	K562	blood:	n/a	n/a
5	ATF1	chr1:191845848-191846111	K562	blood:	n/a	n/a
6	ATF2	chr1:191838896-191839199	GM12878	blood:	n/a	n/a
7	ATF3	chr1:191858154-191858679	K562	blood:	n/a	n/a
8	BATF	chr1:191838976-191839163	GM12878	blood:	n/a	n/a
9	BHLHE40	chr1:191857301-191857435	K562	blood:	n/a	n/a
10	BHLHE40	chr1:191858061-191858651	K562	blood:	n/a	n/a
11	BHLHE40	chr1:191853684-191853687	K562	blood:	n/a	n/a
12	CBX3	chr1:191858024-191858814	K562	blood:	n/a	n/a
13	CBX3	chr1:191861885-191862176	K562	blood:	n/a	n/a
14	CBX3	chr1:191861784-191862212	K562	blood:	n/a	n/a
15	CCNT2	chr1:191858179-191858676	K562	blood:	n/a	n/a
16	CEBPB	chr1:191858098-191858539	K562	blood:	n/a	n/a
17	CEBPB	chr1:191864221-191864551	IMR90	lung:	n/a	chr1:191864384-191864395
18	CEBPB	chr1:191858078-191858708	K562	blood:	n/a	n/a
19	CEBPB	chr1:191858083-191858671	K562	blood:	n/a	n/a
20	CEBPB	chr1:191864209-191864553	K562	blood:	n/a	chr1:191864384-191864395
21	CEBPB	chr1:191857259-191857476	HepG2	liver:	n/a	n/a
22	CEBPB	chr1:191845874-191846144	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:191845843-191846117	K562	blood:	n/a	n/a
24	CEBPB	chr1:191864254-191864514	A549	lung:	n/a	chr1:191864384-191864395
25	CEBPB	chr1:191864244-191864526	HepG2	liver:	n/a	chr1:191864384-191864395
26	CEBPD	chr1:191858101-191858698	K562	blood:	n/a	n/a
27	CHD2	chr1:191858220-191858531	K562	blood:	n/a	n/a
28	CTCF	chr1:191858172-191858318	MCF-7	breast:	n/a	chr1:191858226-191858244
29	CTCF	chr1:191858144-191858343	K562	blood:	n/a	chr1:191858226-191858244
30	CTCF	chr1:191850857-191850893	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr1:191858035-191858794	K562	blood:	n/a	chr1:191858226-191858244
32	CTCF	chr1:191858163-191858309	LNCaP	prostate:	n/a	chr1:191858226-191858244
33	CTCF	chr1:191858140-191858290	HMEC	breast:	n/a	chr1:191858226-191858244
34	CTCF	chr1:191847614-191847635	LNCaP	prostate:	n/a	n/a
35	CTCF	chr1:191858140-191858290	BE2_C	brain:	n/a	chr1:191858226-191858244
36	CTCF	chr1:191858120-191858270	MCF-7	breast:	n/a	chr1:191858226-191858244
37	CTCF	chr1:191858280-191858430	BE2_C	brain:	n/a	n/a
38	CTCF	chr1:191866820-191866970	GM12872	blood:	n/a	n/a
39	CTCF	chr1:191868420-191868570	BE2_C	brain:	n/a	n/a
40	CTCF	chr1:191858173-191858318	Gliobla	brain:	n/a	chr1:191858226-191858244
41	CTCF	chr1:191858203-191858280	LNCaP	prostate:	n/a	chr1:191858226-191858244
42	CTCF	chr1:191858193-191858302	MCF-7	breast:	n/a	chr1:191858226-191858244
43	CUX1	chr1:191858015-191858706	K562	blood:	n/a	n/a
44	CUX1	chr1:191857440-191857446	K562	blood:	n/a	n/a
45	E2F4	chr1:191842745-191842770	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr1:191858476-191858478	MCF10A-Er-Src	breast:	n/a	n/a
47	EGR1	chr1:191858254-191858605	K562	blood:	n/a	n/a
48	EGR1	chr1:191858316-191858620	K562	blood:	n/a	n/a
49	ELK1	chr1:191838010-191838051	Hela-S3	cervix:	n/a	n/a
50	EP300	chr1:191858147-191858538	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

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

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-1	chr1:191844625-191844830	XLOC_000507
2	lnc-UCHL5-3	chr1:191859195-191859359	XLOC_001132
3	lnc-RGS18-1	chr1:191844625-191844830	ENSG00000228215.2

No data

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

Extended variants
information (count: 697 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:697 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548111648	chr1:191836464-191836465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534907689	chr1:191836465-191836466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551745167	chr1:191836496-191836497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369982418	chr1:191836532-191836533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34877372	chr1:191836533-191836534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77327465	chr1:191836545-191836546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs78412618	chr1:191836547-191836548	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571568731	chr1:191836584-191836585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189988023	chr1:191836607-191836608	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181244232	chr1:191836643-191836644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560923179	chr1:191836660-191836661	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556933094	chr1:191836665-191836666	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576574246	chr1:191836683-191836684	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535601662	chr1:191836684-191836685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12084139	chr1:191836701-191836702	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138504562	chr1:191836707-191836708	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs541710295	chr1:191836714-191836715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185347076	chr1:191836715-191836716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12073687	chr1:191836801-191836802	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs527590131	chr1:191836859-191836860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190502191	chr1:191836872-191836873	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs67889560	chr1:191836893-191836894	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200034232	chr1:191836894-191836895	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200782874	chr1:191836895-191836896	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs9427796	chr1:191836896-191836897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs202048776	chr1:191836899-191836900	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs199875811	chr1:191836900-191836901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200942804	chr1:191836904-191836905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199907334	chr1:191836906-191836907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs66831326	chr1:191836907-191836908	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563562318	chr1:191837087-191837088	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528961819	chr1:191837092-191837093	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs182732341	chr1:191837124-191837125	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs559297082	chr1:191837277-191837278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34429372	chr1:191837315-191837316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs9427536	chr1:191837318-191837319	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187643068	chr1:191837377-191837378	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191954022	chr1:191837380-191837381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567110530	chr1:191837421-191837422	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs566305955	chr1:191837466-191837467	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs6689253	chr1:191837502-191837503	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536071053	chr1:191837510-191837511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111753483	chr1:191837581-191837582	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374522109	chr1:191837635-191837636	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182957030	chr1:191837807-191837808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1340193	chr1:191837893-191837894	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555330936	chr1:191837901-191837902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576079104	chr1:191837950-191837951	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1340192	chr1:191838017-191838018	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555629685	chr1:191838037-191838038	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191839000-191840400	Enhancers	GM12878-XiMat	blood
2	chr1:191840200-191841200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:191844400-191844800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:191845400-191846200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:191851400-191852200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:191851600-191853200	Enhancers	Dnd41	blood
7	chr1:191851800-191852200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:191855600-191858000	Enhancers	Dnd41	blood
9	chr1:191855800-191856000	ZNF genes & repeats	K562	blood
10	chr1:191856000-191857400	Weak transcription	K562	blood
11	chr1:191857400-191859000	Enhancers	K562	blood
12	chr1:191857800-191858200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:191858000-191858200	Enhancers	Ovary	ovary
14	chr1:191858000-191858400	Enhancers	Fetal Stomach	stomach
15	chr1:191858000-191859000	Enhancers	Fetal Lung	lung
16	chr1:191858000-191860000	Flanking Active TSS	Dnd41	blood
17	chr1:191858200-191858400	Flanking Active TSS	Ovary	ovary
18	chr1:191858200-191858600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:191858400-191858600	Active TSS	Ovary	ovary
20	chr1:191858400-191858800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr1:191859600-191860000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:191860000-191860400	Enhancers	Dnd41	blood
23	chr1:191860400-191860600	Weak transcription	Dnd41	blood
24	chr1:191860600-191860800	ZNF genes & repeats	Dnd41	blood
25	chr1:191864600-191865200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:191864600-191865400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:191864600-191866400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:191864800-191865200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:191864800-191865200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:191865200-191865400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:191865200-191866600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:191865200-191866600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:191866200-191866800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr1:191866800-191867000	Enhancers	HUES6 Cell Line	embryonic stem cell

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