Variant report

Variant	esv3421023
Chromosome Location	chr1:165550778-165553601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:165553526-165553611	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr1:165551377-165551526	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:165551240-165551517	MCF-7	breast:	n/a	n/a
4	POLR2A	chr1:165551228-165551474	MCF-7	breast:	n/a	n/a
5	POLR2A	chr1:165551480-165551497	MCF-7	breast:	n/a	n/a
6	POLR2A	chr1:165551459-165551490	A549	lung:	n/a	n/a
7	POLR2A	chr1:165551363-165551426	A549	lung:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:165551490-165551540	SK-N-MC	brain:	n/a
2	chr1:165550932-165550982	IMR90	lung:	fetal
3	chr1:165551490-165551540	AG09319	gingival:	n/a
4	chr1:165551424-165551474	NHBE	bronchial:	n/a
5	chr1:165551210-165551260	HUVEC	blood vessel:	n/a
6	chr1:165551490-165551540	U87	brain:	n/a
7	chr1:165550932-165550982	MCF10A-Er-Src	breast:	n/a
8	chr1:165551210-165551260	HRCEpiC	kidney:	n/a
9	chr1:165550932-165550982	H1-hESC	embryonic stem cell:	embryo
10	chr1:165551490-165551540	NHBE	bronchial:	n/a
11	chr1:165551490-165551540	Hela-S3	cervix:	n/a
12	chr1:165551210-165551260	MCF10A-Er-Src	breast:	n/a
13	chr1:165550932-165550982	HUVEC	blood vessel:	n/a
14	chr1:165551210-165551260	HL-60	blood:	n/a
15	chr1:165550932-165550982	AG09319	gingival:	n/a
16	chr1:165551490-165551540	RPTEC	kidney:	n/a
17	chr1:165551424-165551474	HCM	heart:	n/a
18	chr1:165551424-165551474	MCF-7	breast:	n/a
19	chr1:165551210-165551260	AoSMC	blood vessel:	n/a
20	chr1:165550932-165550982	K562	blood:	n/a
21	chr1:165551424-165551474	HCPEpiC	choroid plexus:	n/a
22	chr1:165551210-165551260	T-47D	breast:	n/a
23	chr1:165550932-165550982	PANC-1	pancreas:	n/a
24	chr1:165551490-165551540	MCF10A-Er-Src	breast:	n/a
25	chr1:165551490-165551540	Caco-2	colon:	n/a
26	chr1:165550932-165550982	ProgFib	skin:	n/a
27	chr1:165551424-165551474	Jurkat	blood:	n/a
28	chr1:165551490-165551540	IMR90	lung:	fetal
29	chr1:165551424-165551474	H1-hESC	embryonic stem cell:	embryo
30	chr1:165551424-165551474	NH-A	brain:	n/a
31	chr1:165551490-165551540	H1-hESC	embryonic stem cell:	embryo
32	chr1:165550932-165550982	GM19239	blood:	n/a
33	chr1:165551490-165551540	HPAEpiC	pulmonary alveolar:	n/a
34	chr1:165551210-165551260	Jurkat	blood:	n/a
35	chr1:165551424-165551474	PrEC	prostate:	n/a
36	chr1:165550932-165550982	HRCEpiC	kidney:	n/a
37	chr1:165551210-165551260	AG09319	gingival:	n/a
38	chr1:165550932-165550982	AG04450	lung:	fetal
39	chr1:165551490-165551540	PrEC	prostate:	n/a
40	chr1:165550932-165550982	GM12892	blood:	n/a
41	chr1:165551490-165551540	GM12892	blood:	n/a
42	chr1:165551424-165551474	AG10803	skin:	n/a
43	chr1:165550932-165550982	HL-60	blood:	n/a
44	chr1:165550932-165550982	HCM	heart:	n/a
45	chr1:165551490-165551540	BJ	skin:	n/a
46	chr1:165551424-165551474	AG09309	skin:	n/a
47	chr1:165551210-165551260	ProgFib	skin:	n/a
48	chr1:165550932-165550982	GM06990	blood:	n/a
49	chr1:165551210-165551260	GM12878	blood:	n/a
50	chr1:165551210-165551260	PrEC	prostate:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RXRG-1	chr1:165550764-165550815	NONHSAT007311

No data

Variant related genes	Relation type
ENSG00000237783	TF binding region
ENSG00000237463	TF binding region
ENSG00000237783	CpG island
ENSG00000237463	CpG island

Extended variants
information (count: 204 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554895597	chr1:165550804-165550805	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs182105567	chr1:165550823-165550824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544179789	chr1:165550833-165550834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186571483	chr1:165550836-165550837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs41267556	chr1:165550841-165550842	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576989510	chr1:165550846-165550847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116383715	chr1:165550884-165550885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559843292	chr1:165550891-165550892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs41267558	chr1:165550894-165550895	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs41267560	chr1:165550903-165550904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565235466	chr1:165550942-165550943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531064009	chr1:165550956-165550957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115756982	chr1:165550966-165550967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375531393	chr1:165550988-165550989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565881271	chr1:165551046-165551047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547052094	chr1:165551049-165551050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73027013	chr1:165551062-165551063	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183195347	chr1:165551098-165551099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558736536	chr1:165551113-165551114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569080417	chr1:165551128-165551129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538106151	chr1:165551139-165551140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74118822	chr1:165551149-165551150	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145738020	chr1:165551150-165551151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539881642	chr1:165551195-165551196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553440166	chr1:165551222-165551223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs41267562	chr1:165551225-165551226	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188398057	chr1:165551231-165551232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565097207	chr1:165551234-165551235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531028436	chr1:165551271-165551272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543418884	chr1:165551342-165551343	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs193033094	chr1:165551355-165551356	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs556641140	chr1:165551356-165551357	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530092645	chr1:165551397-165551398	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs184850016	chr1:165551399-165551400	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs56301026	chr1:165551403-165551404	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138012104	chr1:165551404-165551405	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs117716096	chr1:165551413-165551414	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs542909455	chr1:165551423-165551424	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs114595624	chr1:165551425-165551426	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs569042791	chr1:165551446-165551447	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs537670929	chr1:165551451-165551452	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs188161845	chr1:165551481-165551482	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs7512192	chr1:165551490-165551491	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533779594	chr1:165551504-165551505	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs553305361	chr1:165551542-165551543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576441181	chr1:165551564-165551565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539112904	chr1:165551567-165551568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370810854	chr1:165551582-165551583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4598471	chr1:165551604-165551605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544516792	chr1:165551712-165551713	Weak transcription	n/a	n/a	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
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165547400-165566800	Weak transcription	Psoas Muscle	Psoas
2	chr1:165549000-165551000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:165549600-165551200	Enhancers	NHEK	skin
4	chr1:165549600-165551600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:165549600-165551600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:165549800-165551600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:165550200-165551400	Enhancers	HMEC	breast
8	chr1:165550400-165551000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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