Variant report

Variant	nsv516881
Chromosome Location	chr1:192206032-192215064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:192213142-192213150	K562	blood:	n/a	n/a
2	CEBPB	chr1:192210232-192210513	IMR90	lung:	n/a	n/a
3	CTCF	chr1:192207680-192207830	HRPEpiC	eye:	n/a	n/a
4	CTCF	chr1:192207620-192207770	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr1:192207700-192207850	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr1:192207640-192207790	AG04449	skin:	n/a	n/a
7	CTCF	chr1:192207642-192207861	MCF-7	breast:	n/a	n/a
8	CTCF	chr1:192207680-192207830	BE2_C	brain:	n/a	n/a
9	CTCF	chr1:192207740-192207890	MCF-7	breast:	n/a	n/a
10	CTCF	chr1:192207653-192207791	IMR90	lung:	n/a	n/a
11	CTCF	chr1:192207718-192207811	Gliobla	brain:	n/a	n/a
12	CTCF	chr1:192207560-192207710	HCM	heart:	n/a	n/a
13	CTCF	chr1:192207742-192207784	NHEK	skin:	n/a	n/a
14	CTCF	chr1:192207540-192207690	WI-38	lung:	n/a	n/a
15	CTCF	chr1:192207640-192207790	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:192207940-192208090	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr1:192207600-192207750	RPTEC	kidney:	n/a	n/a
18	CTCF	chr1:192207640-192207790	A549	lung:	n/a	n/a
19	CTCF	chr1:192207660-192207810	AG04450	lung:	n/a	n/a
20	CTCF	chr1:192207680-192207830	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr1:192207660-192207810	HAc	cerebellar:	n/a	n/a
22	CTCF	chr1:192207600-192207750	AG04449	skin:	n/a	n/a
23	CTCF	chr1:192207674-192207851	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:192207680-192207840	K562	blood:	n/a	n/a
25	CTCF	chr1:192207640-192207790	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr1:192211520-192211670	BE2_C	brain:	n/a	n/a
27	CTCF	chr1:192207753-192207769	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr1:192207660-192207810	BE2_C	brain:	n/a	n/a
29	CTCF	chr1:192207650-192207878	K562	blood:	n/a	n/a
30	E2F4	chr1:192211990-192212190	MCF10A-Er-Src	breast:	n/a	n/a
31	MAZ	chr1:192207758-192207759	K562	blood:	n/a	n/a
32	MAZ	chr1:192212883-192212981	HepG2	liver:	n/a	n/a
33	RAD21	chr1:192207656-192207979	MCF-7	breast:	n/a	n/a
34	RAD21	chr1:192207537-192207937	H1-hESC	embryonic stem cell:	n/a	n/a
35	RAD21	chr1:192207575-192207936	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr1:192207571-192207841	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr1:192207479-192208007	MCF-7	breast:	n/a	n/a
38	RFX5	chr1:192208416-192208450	K562	blood:	n/a	n/a
39	STAT3	chr1:192209789-192209984	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:191962364..191963024-chr1:192207187..192208134,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236792	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528984024	chr1:192211641-192211642	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs539149953	chr1:192212049-192212050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs116464873	chr1:192212050-192212051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs374369216	chr1:192212075-192212076	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575622110	chr1:192212160-192212161	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs561680870	chr1:192212888-192212889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs558444643	chr1:192212915-192212916	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540074555	chr1:192213211-192213212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556500387	chr1:192213226-192213227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs1175152	chr1:192213236-192213237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541593562	chr1:192213237-192213238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555478113	chr1:192213278-192213279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375364424	chr1:192213329-192213330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35469479	chr1:192213342-192213343	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192213200-192213400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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