Variant report

Variant	esv3452524
Chromosome Location	chr1:158489480-158492137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:158491160-158491310	GM12867	blood:	n/a	n/a
2	E2F4	chr1:158491949-158492004	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr1:158490840-158490870	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000231434	TF binding region

Extended variants
information (count: 57 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7339982	chr1:158489481-158489482	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs549898150	chr1:158489490-158489491	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs568102934	chr1:158489511-158489512	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs369801163	chr1:158489538-158489539	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs35024434	chr1:158489551-158489552	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs181364032	chr1:158489587-158489588	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs180967288	chr1:158490815-158490816	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547153467	chr1:158490846-158490847	Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs113669593	chr1:158490865-158490866	Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549962066	chr1:158490876-158490877	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186168475	chr1:158490883-158490884	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532801562	chr1:158490892-158490893	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143280358	chr1:158490909-158490910	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569639535	chr1:158490919-158490920	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113273299	chr1:158490940-158490941	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183012306	chr1:158491098-158491099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61560285	chr1:158491203-158491204	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs77205466	chr1:158491216-158491217	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs543369850	chr1:158491246-158491247	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs553964237	chr1:158491250-158491251	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs572461556	chr1:158491376-158491377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187675948	chr1:158491415-158491416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558155975	chr1:158491427-158491428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576820546	chr1:158491428-158491429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544110506	chr1:158491429-158491430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1491193	chr1:158491479-158491480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574146933	chr1:158491480-158491481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541574771	chr1:158491496-158491497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs950260	chr1:158491520-158491521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12067180	chr1:158491538-158491539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533020915	chr1:158491562-158491563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550980271	chr1:158491593-158491594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562929305	chr1:158491601-158491602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542589433	chr1:158491633-158491634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527286086	chr1:158491641-158491642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530741658	chr1:158491651-158491652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190952853	chr1:158491653-158491654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567495206	chr1:158491654-158491655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528282912	chr1:158491669-158491670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546726992	chr1:158491687-158491688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59758212	chr1:158491693-158491694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1491194	chr1:158491699-158491700	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536161821	chr1:158491708-158491709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7416481	chr1:158491719-158491720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369444423	chr1:158491722-158491723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2317969	chr1:158491753-158491754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570041836	chr1:158491791-158491792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551605516	chr1:158491793-158491794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7518808	chr1:158491820-158491821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs574229277	chr1:158491870-158491871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	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
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158489400-158489600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:158490800-158491000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:158490800-158492000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:158491000-158491200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:158491000-158491600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:158491000-158491600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:158491000-158491800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:158491600-158491800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:158491600-158492000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:158491800-158496800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:158491800-158497400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:158492000-158497200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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