Variant report

Variant	esv3391935
Chromosome Location	chr1:165788353-165791201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:165788458-165788535	GM20000	blood:	n/a	n/a
2	IRF1	chr1:165788764-165788770	K562	blood:	n/a	n/a
3	JUN	chr1:165790161-165790361	K562	blood:	n/a	n/a
4	POLR2A	chr1:165789570-165789574	K562	blood:	n/a	n/a
5	POLR2A	chr1:165790323-165790443	K562	blood:	n/a	n/a
6	POLR2A	chr1:165789249-165789345	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:165789511..165794816-chr1:165795192..165798918,9	MCF-7	breast:
2	chr1:165787196..165789298-chr1:165790738..165792394,2	K562	blood:
3	chr1:165789977..165794630-chr1:165795675..165799521,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230659	TF binding region
ENSG00000143183	chromatin interactions
ENSG00000143179	chromatin interactions
ENSG00000230659	chromatin interactions

Extended variants
information (count: 124 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116791998	chr1:165788356-165788357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553414931	chr1:165788369-165788370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572950906	chr1:165788416-165788417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568237277	chr1:165788428-165788429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538640074	chr1:165788429-165788430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11394162	chr1:165788431-165788432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs60329061	chr1:165788432-165788433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570549341	chr1:165788446-165788447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35115394	chr1:165788482-165788483	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs188521740	chr1:165788492-165788493	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs564200467	chr1:165788545-165788546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533083513	chr1:165788582-165788583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549871471	chr1:165788655-165788656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113703109	chr1:165788688-165788689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563080888	chr1:165788723-165788724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150052941	chr1:165788738-165788739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116090068	chr1:165788782-165788783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568726357	chr1:165788790-165788791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577521579	chr1:165788794-165788795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547747039	chr1:165788849-165788850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570484417	chr1:165788850-165788851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34738710	chr1:165788880-165788881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371294922	chr1:165788921-165788922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192750607	chr1:165788966-165788967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185003434	chr1:165789010-165789011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575880887	chr1:165789019-165789020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555142937	chr1:165789025-165789026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535628414	chr1:165789040-165789041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555407028	chr1:165789108-165789109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533931614	chr1:165789134-165789135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543675090	chr1:165789144-165789145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114914013	chr1:165789150-165789151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557799913	chr1:165789170-165789171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147751663	chr1:165789190-165789191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4233409	chr1:165789197-165789198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs60840827	chr1:165789208-165789209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563372174	chr1:165789237-165789238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531853383	chr1:165789266-165789267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542394509	chr1:165789276-165789277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562274080	chr1:165789292-165789293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542386809	chr1:165789307-165789308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188485829	chr1:165789331-165789332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559486970	chr1:165789394-165789395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12565963	chr1:165789461-165789462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570515259	chr1:165789477-165789478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374817166	chr1:165789511-165789512	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372708966	chr1:165789517-165789518	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368036322	chr1:165789531-165789532	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs59325661	chr1:165789534-165789535	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs146780430	chr1:165789535-165789536	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165785600-165790600	Weak transcription	Right Atrium	heart
2	chr1:165787600-165792800	Weak transcription	K562	blood
3	chr1:165787800-165790200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:165789600-165790600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:165790200-165791800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:165790600-165790800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:165790600-165790800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:165790600-165790800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:165790600-165790800	ZNF genes & repeats	Right Atrium	heart
10	chr1:165790800-165791600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:165790800-165796200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:165790800-165796200	Weak transcription	Right Atrium	heart
13	chr1:165790800-165796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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