Variant report

Variant	nsv1009021
Chromosome Location	chr1:191825842-191899831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:312)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:312 , 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	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	chr1:191853684-191853687	K562	blood:	n/a	n/a
11	BHLHE40	chr1:191858061-191858651	K562	blood:	n/a	n/a
12	CBX3	chr1:191877847-191878202	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	CBX3	chr1:191858024-191858814	K562	blood:	n/a	n/a
16	CCNT2	chr1:191858179-191858676	K562	blood:	n/a	n/a
17	CCNT2	chr1:191896750-191896900	K562	blood:	n/a	n/a
18	CEBPB	chr1:191830317-191830421	K562	blood:	n/a	n/a
19	CEBPB	chr1:191857259-191857476	HepG2	liver:	n/a	n/a
20	CEBPB	chr1:191834813-191834972	H1-hESC	embryonic stem cell:	n/a	chr1:191834839-191834850
21	CEBPB	chr1:191892807-191893084	K562	blood:	n/a	chr1:191892933-191892944
22	CEBPB	chr1:191858098-191858539	K562	blood:	n/a	n/a
23	CEBPB	chr1:191834758-191834987	A549	lung:	n/a	chr1:191834839-191834850
24	CEBPB	chr1:191834712-191834974	K562	blood:	n/a	chr1:191834839-191834850
25	CEBPB	chr1:191858078-191858708	K562	blood:	n/a	n/a
26	CEBPB	chr1:191834669-191835023	IMR90	lung:	n/a	chr1:191834839-191834850
27	CEBPB	chr1:191892805-191893109	IMR90	lung:	n/a	chr1:191892933-191892944
28	CEBPB	chr1:191864254-191864514	A549	lung:	n/a	chr1:191864384-191864395
29	CEBPB	chr1:191892809-191893086	HepG2	liver:	n/a	chr1:191892933-191892944
30	CEBPB	chr1:191864221-191864551	IMR90	lung:	n/a	chr1:191864384-191864395
31	CEBPB	chr1:191864209-191864553	K562	blood:	n/a	chr1:191864384-191864395
32	CEBPB	chr1:191845874-191846144	HepG2	liver:	n/a	n/a
33	CEBPB	chr1:191864244-191864526	HepG2	liver:	n/a	chr1:191864384-191864395
34	CEBPB	chr1:191845843-191846117	K562	blood:	n/a	n/a
35	CEBPB	chr1:191834701-191834983	HepG2	liver:	n/a	chr1:191834839-191834850
36	CEBPB	chr1:191858083-191858671	K562	blood:	n/a	n/a
37	CEBPD	chr1:191858101-191858698	K562	blood:	n/a	n/a
38	CHD2	chr1:191858220-191858531	K562	blood:	n/a	n/a
39	CTCF	chr1:191898600-191898750	HepG2	liver:	n/a	n/a
40	CTCF	chr1:191858035-191858794	K562	blood:	n/a	chr1:191858226-191858244
41	CTCF	chr1:191897459-191897471	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:191830403-191830439	Medullo	brain:	n/a	n/a
43	CTCF	chr1:191850857-191850893	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr1:191858163-191858309	LNCaP	prostate:	n/a	chr1:191858226-191858244
45	CTCF	chr1:191898660-191898810	HCT-116	colon:	n/a	n/a
46	CTCF	chr1:191830360-191830510	A549	lung:	n/a	n/a
47	CTCF	chr1:191898600-191898750	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr1:191898560-191898710	GM12869	blood:	n/a	n/a
49	CTCF	chr1:191897448-191897534	MCF-7	breast:	n/a	n/a
50	CTCF	chr1:191897447-191897539	NHEK	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:191887988..191890658-chr1:191891458..191893123,2	K562	blood:
2	chr1:191858381..191861097-chr1:191864368..191867185,2	K562	blood:
3	chr1:191841073..191843437-chr1:191843646..191846298,2	K562	blood:
4	chr1:191849617..191851741-chr1:191856964..191859134,3	K562	blood:
5	chr1:191836436..191839226-chr1:191842786..191844832,2	K562	blood:
6	chr1:191854730..191856594-chr1:191856723..191859160,2	K562	blood:
7	chr1:191858381..191859932-chr1:191864838..191867185,2	K562	blood:
8	chr1:191864173..191866057-chr1:191874341..191876184,2	K562	blood:
9	chr1:191854730..191856594-chr1:191856723..191859160,2	K562	blood:
10	chr1:191844983..191847069-chr1:191850769..191852531,2	K562	blood:
11	chr1:191864173..191866057-chr1:191874341..191876184,2	K562	blood:
12	chr1:191887988..191890658-chr1:191891458..191893123,2	K562	blood:
13	chr1:191850241..191852634-chr1:191855846..191858464,3	K562	blood:
14	chr1:191849617..191851741-chr1:191856964..191859134,3	K562	blood:
15	chr1:191844983..191847069-chr1:191850769..191852531,2	K562	blood:
16	chr1:191802155..191804937-chr1:191853608..191855643,2	K562	blood:
17	chr1:191850241..191852634-chr1:191855846..191858464,3	K562	blood:

(count:6 , 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	chr1:191835950-191836090	XLOC_001132
3	lnc-UCHL5-3	chr1:191859195-191859359	XLOC_001132
4	lnc-UCHL5-3	chr1:191827893-191828310	XLOC_001132
5	lnc-RGS18-1	chr1:191844625-191844830	ENSG00000228215.2
6	lnc-UCHL5-3	chr1:191827837-191828310	XLOC_001132

No data

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

Extended variants
information (count: 1635 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1635 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182113580	chr1:191827010-191827011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561526746	chr1:191827021-191827022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527521188	chr1:191827063-191827064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550902563	chr1:191827169-191827170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546684497	chr1:191827173-191827174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566804578	chr1:191827176-191827177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113156634	chr1:191827199-191827200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575573665	chr1:191827899-191827900	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs564320291	chr1:191827914-191827915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs183583422	chr1:191827924-191827925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs188730021	chr1:191827927-191827928	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs12563123	chr1:191827980-191827981	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs139667909	chr1:191828015-191828016	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs562855492	chr1:191828033-191828034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs192852980	chr1:191828034-191828035	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs185709964	chr1:191828101-191828102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs375731053	chr1:191828110-191828111	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs568732005	chr1:191828114-191828115	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs534514240	chr1:191828133-191828134	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs72729253	chr1:191828153-191828154	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187568732	chr1:191828154-191828155	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs539146981	chr1:191828187-191828188	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs146248495	chr1:191828195-191828196	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs3904981	chr1:191828221-191828222	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10801075	chr1:191828239-191828240	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs191446155	chr1:191828243-191828244	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs138787508	chr1:191828244-191828245	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs541339002	chr1:191828259-191828260	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs556528482	chr1:191828261-191828262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs577864058	chr1:191829043-191829044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543563502	chr1:191829068-191829069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375686487	chr1:191829088-191829089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544475347	chr1:191829139-191829140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148011804	chr1:191829141-191829142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576579956	chr1:191829150-191829151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542372785	chr1:191829153-191829154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562050812	chr1:191829166-191829167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562858198	chr1:191829198-191829199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573166700	chr1:191829237-191829238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527722911	chr1:191829249-191829250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114318556	chr1:191829252-191829253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532724718	chr1:191829336-191829337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181468110	chr1:191829354-191829355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549929551	chr1:191829357-191829358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115382698	chr1:191829400-191829401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576619296	chr1:191835973-191835974	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs375694118	chr1:191836021-191836022	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs553246859	chr1:191836024-191836025	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs561957443	chr1:191836035-191836036	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs572676417	chr1:191836061-191836062	Inactive region	lncRNA	n/a	Overlapped CNVs	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191827000-191827200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:191829000-191829400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:191839000-191840400	Enhancers	GM12878-XiMat	blood
4	chr1:191840200-191841200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:191844400-191844800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:191845400-191846200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:191851400-191852200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:191851600-191853200	Enhancers	Dnd41	blood
9	chr1:191851800-191852200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:191855600-191858000	Enhancers	Dnd41	blood
11	chr1:191855800-191856000	ZNF genes & repeats	K562	blood
12	chr1:191856000-191857400	Weak transcription	K562	blood
13	chr1:191857400-191859000	Enhancers	K562	blood
14	chr1:191857800-191858200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:191858000-191858200	Enhancers	Ovary	ovary
16	chr1:191858000-191858400	Enhancers	Fetal Stomach	stomach
17	chr1:191858000-191859000	Enhancers	Fetal Lung	lung
18	chr1:191858000-191860000	Flanking Active TSS	Dnd41	blood
19	chr1:191858200-191858400	Flanking Active TSS	Ovary	ovary
20	chr1:191858200-191858600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:191858400-191858600	Active TSS	Ovary	ovary
22	chr1:191858400-191858800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr1:191859600-191860000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:191860000-191860400	Enhancers	Dnd41	blood
25	chr1:191860400-191860600	Weak transcription	Dnd41	blood
26	chr1:191860600-191860800	ZNF genes & repeats	Dnd41	blood
27	chr1:191864600-191865200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:191864600-191865400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:191864600-191866400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:191864800-191865200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:191864800-191865200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:191865200-191865400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:191865200-191866600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:191865200-191866600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:191866200-191866800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:191866800-191867000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:191870600-191871200	Enhancers	HMEC	breast
38	chr1:191870800-191871200	Enhancers	NHEK	skin
39	chr1:191870800-191871400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:191871000-191871200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:191871200-191877600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:191875000-191875200	Enhancers	Fetal Lung	lung
43	chr1:191876000-191876400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:191876000-191876400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:191876000-191876600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:191876000-191877200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr1:191876200-191876400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:191876400-191877400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:191876400-191877600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:191876600-191876800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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