Variant report

Variant	nsv947208
Chromosome Location	chr1:189955161-189962266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:189958840-189958990	HepG2	liver:	n/a	n/a
2	CTCF	chr1:189961252-189961345	K562	blood:	n/a	n/a
3	CTCF	chr1:189958540-189958690	MCF-7	breast:	n/a	n/a
4	CTCF	chr1:189961249-189961379	K562	blood:	n/a	n/a
5	CTCF	chr1:189958560-189958710	HCPEpiC	choroid plexus:	n/a	n/a
6	EBF1	chr1:189959644-189959721	GM12878	blood:	n/a	n/a
7	FOSL2	chr1:189961245-189961417	HepG2	liver:	n/a	n/a
8	FOXA2	chr1:189961057-189961378	A549	lung:	n/a	n/a
9	FOXA2	chr1:189961226-189961472	A549	lung:	n/a	n/a
10	GABPA	chr1:189961292-189961349	GM12878	blood:	n/a	n/a
11	KAP1	chr1:189961404-189961889	HEK293	kidney:	n/a	n/a
12	MAFF	chr1:189956234-189956446	HepG2	liver:	n/a	chr1:189956340-189956358
13	NR3C1	chr1:189961236-189961408	A549	lung:	n/a	n/a
14	PBX3	chr1:189961278-189961387	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:189962143-189962158	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:189962185-189962294	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:189961274-189961374	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr1:189961169-189961305	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr1:189962137-189962138	MCF-7	breast:	n/a	n/a
20	POLR2A	chr1:189961290-189961345	A549	lung:	n/a	n/a
21	POLR2A	chr1:189962159-189962170	MCF-7	breast:	n/a	n/a
22	POLR2A	chr1:189956857-189956992	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr1:189957755-189957927	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr1:189958811-189958952	Gliobla	brain:	n/a	n/a
25	POLR2A	chr1:189962065-189962300	MCF-7	breast:	n/a	n/a
26	POLR2A	chr1:189960029-189960184	MCF10A-Er-Src	breast:	n/a	n/a
27	REST	chr1:189961275-189961344	PFSK-1	brain:	n/a	n/a
28	REST	chr1:189961294-189961374	GM12878	blood:	n/a	n/a
29	SETDB1	chr1:189961304-189961909	U2OS	brain:	n/a	n/a
30	SPI1	chr1:189961278-189961391	GM12878	blood:	n/a	n/a
31	ZNF143	chr1:189961441-189961671	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:189955705..189957975-chr1:189976972..189978590,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-5	chr1:189958700-189962227	NONHSAT008489

No data

Variant related genes	Relation type
ENSG00000230987	TF binding region

Extended variants
information (count: 262 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548489618	chr1:189955626-189955627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575986556	chr1:189955641-189955642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73050761	chr1:189955647-189955648	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537733281	chr1:189955684-189955685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557408994	chr1:189955758-189955759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192606045	chr1:189955787-189955788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574275343	chr1:189955814-189955815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543181267	chr1:189955832-189955833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs536847694	chr1:189955848-189955849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553471077	chr1:189955871-189955872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs815735	chr1:189955878-189955879	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182287333	chr1:189955896-189955897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565264770	chr1:189955914-189955915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75870365	chr1:189955960-189955961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531039425	chr1:189955965-189955966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78578875	chr1:189955968-189955969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145295736	chr1:189955978-189955979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575066371	chr1:189956009-189956010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563435815	chr1:189956027-189956028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376444928	chr1:189956039-189956040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187746501	chr1:189956056-189956057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558994036	chr1:189956096-189956097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147571291	chr1:189956121-189956122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551094489	chr1:189956133-189956134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571211849	chr1:189956159-189956160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536694925	chr1:189956161-189956162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552379551	chr1:189956175-189956176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551215232	chr1:189956177-189956178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567880841	chr1:189956197-189956198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35437076	chr1:189956212-189956213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532228986	chr1:189956239-189956240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77263296	chr1:189956269-189956270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553583683	chr1:189956313-189956314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565273393	chr1:189956337-189956338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567106995	chr1:189956346-189956347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141975891	chr1:189956379-189956380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78273392	chr1:189956457-189956458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575550498	chr1:189956480-189956481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544287334	chr1:189956481-189956482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547847703	chr1:189956494-189956495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557184450	chr1:189956512-189956513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573617987	chr1:189956527-189956528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542539001	chr1:189956548-189956549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76711018	chr1:189956556-189956557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75828105	chr1:189956581-189956582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530339670	chr1:189956584-189956585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564838598	chr1:189956599-189956600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550350606	chr1:189956623-189956624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192737501	chr1:189956629-189956630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372866111	chr1:189956689-189956690	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Breast cancer	17899364	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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189955600-189956200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr1:189956000-189956800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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