Variant report

Variant	esv3440534
Chromosome Location	chr1:191145529-191150027
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:191146048-191146093	HepG2	liver:	n/a	n/a
2	EP300	chr1:191147501-191147521	K562	blood:	n/a	n/a
3	FOXP2	chr1:191145193-191145573	SK-N-MC	brain:	n/a	n/a
4	JUN	chr1:191146051-191146193	K562	blood:	n/a	n/a
5	NANOG	chr1:191148984-191149198	H1-hESC	embryonic stem cell:	n/a	n/a
6	NFYB	chr1:191147738-191147938	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:191145148-191145648	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr1:191147706-191147894	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:191149141-191149173	MCF-7	breast:	n/a	n/a
10	POLR2A	chr1:191149128-191149134	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:191139593..191142388-chr1:191149120..191151841,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-10	chr1:191148651-191148869	NONHSAT008516

No data

Variant related genes	Relation type
ENSG00000271187	TF binding region

Extended variants
information (count: 145 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79082436	chr1:191145540-191145541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377640484	chr1:191145555-191145556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560021516	chr1:191145561-191145562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576687402	chr1:191145585-191145586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545018520	chr1:191145592-191145593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565106621	chr1:191145624-191145625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57186611	chr1:191145771-191145772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550830107	chr1:191145796-191145797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147333702	chr1:191145818-191145819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560765397	chr1:191145827-191145828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530362473	chr1:191145836-191145837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547166985	chr1:191145850-191145851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7528993	chr1:191145878-191145879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539302570	chr1:191145904-191145905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552221646	chr1:191145920-191145921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540196485	chr1:191145976-191145977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537842141	chr1:191146019-191146020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554416641	chr1:191146069-191146070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111259604	chr1:191146182-191146183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10737595	chr1:191146188-191146189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533749006	chr1:191146226-191146227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140891600	chr1:191146299-191146300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184378725	chr1:191146352-191146353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113944266	chr1:191146353-191146354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10801027	chr1:191146392-191146393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575588512	chr1:191146425-191146426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187149828	chr1:191146506-191146507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562873573	chr1:191146507-191146508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561975304	chr1:191146530-191146531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191643626	chr1:191146615-191146616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184500977	chr1:191146716-191146717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34083976	chr1:191146732-191146733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188752691	chr1:191146762-191146763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560638003	chr1:191146790-191146791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531645073	chr1:191146823-191146824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552637392	chr1:191146824-191146825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1377928	chr1:191146840-191146841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs71493174	chr1:191146856-191146857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1377926	chr1:191146857-191146858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370333636	chr1:191146875-191146876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551363980	chr1:191146993-191146994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568079253	chr1:191147132-191147133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533614846	chr1:191147157-191147158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182425761	chr1:191147188-191147189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570347185	chr1:191147209-191147210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570341533	chr1:191147221-191147222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539238973	chr1:191147235-191147236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147473556	chr1:191147249-191147250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576238805	chr1:191147272-191147273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374028608	chr1:191147273-191147274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191144800-191150000	Weak transcription	Dnd41	blood
2	chr1:191150000-191150400	Enhancers	Dnd41	blood

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