Variant report

Variant	esv3399449
Chromosome Location	chr1:152920303-152922326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:152922220-152922370	K562	blood:	n/a	n/a
2	CTCF	chr1:152922144-152922447	K562	blood:	n/a	n/a
3	CTCF	chr1:152922276-152922339	GM12878	blood:	n/a	n/a
4	CTCF	chr1:152922240-152922390	HEEpiC	esophagus:	n/a	n/a
5	CTCF	chr1:152922260-152922410	SAEC	small airway:	n/a	n/a
6	CTCF	chr1:152922200-152922350	GM12872	blood:	n/a	n/a
7	CTCF	chr1:152922256-152922334	MCF-7	breast:	n/a	n/a
8	CTCF	chr1:152922200-152922350	NHEK	skin:	n/a	n/a
9	CTCF	chr1:152922200-152922350	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr1:152922220-152922370	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr1:152922180-152922330	Caco-2	colon:	n/a	n/a
12	CTCF	chr1:152922220-152922377	K562	blood:	n/a	n/a
13	CTCF	chr1:152922202-152922369	LNCaP	prostate:	n/a	n/a
14	CTCF	chr1:152922240-152922390	SAEC	small airway:	n/a	n/a
15	CTCF	chr1:152922222-152922360	NHEK	skin:	n/a	n/a
16	CTCF	chr1:152922120-152922436	T-47D	breast:	n/a	n/a
17	CTCF	chr1:152922200-152922350	HMEC	breast:	n/a	n/a
18	CTCF	chr1:152922266-152922324	Hela-S3	cervix:	n/a	n/a
19	RAD21	chr1:152922208-152922322	K562	blood:	n/a	n/a
20	RAD21	chr1:152922232-152922403	Hela-S3	cervix:	n/a	n/a
21	SMC3	chr1:152922290-152922325	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152919239..152921141-chr1:152923628..152926576,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRR2D-1	chr1:152921462-152921686	XLOC_001030

No data

Variant related genes	Relation type
ENSG00000224308	TF binding region
HAUS3	miRNA target sites

Extended variants
information (count: 90 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141371707	chr1:152920361-152920362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189110649	chr1:152920373-152920374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528635367	chr1:152920421-152920422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548268828	chr1:152920451-152920452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150245795	chr1:152920455-152920456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138876335	chr1:152920460-152920461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556809311	chr1:152920477-152920478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572684430	chr1:152920478-152920479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192812790	chr1:152920577-152920578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539239056	chr1:152920599-152920600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79402685	chr1:152920629-152920630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71626740	chr1:152920663-152920664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183070288	chr1:152920693-152920694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140380017	chr1:152920694-152920695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527964875	chr1:152920695-152920696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187125515	chr1:152920702-152920703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73008585	chr1:152920707-152920708	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142260748	chr1:152920708-152920709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377290654	chr1:152920709-152920710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143749960	chr1:152920711-152920712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367924133	chr1:152920717-152920718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77647492	chr1:152920718-152920719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59227896	chr1:152920839-152920840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201730344	chr1:152920856-152920857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114224571	chr1:152920857-152920858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543942758	chr1:152920858-152920859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546417588	chr1:152920859-152920860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74874969	chr1:152920860-152920861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77676077	chr1:152920862-152920863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs33924538	chr1:152920863-152920864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7416267	chr1:152920864-152920865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3054120	chr1:152920879-152920880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149381355	chr1:152920916-152920917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202142913	chr1:152920950-152920951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34336093	chr1:152920952-152920953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189320510	chr1:152920953-152920954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548020237	chr1:152920954-152920955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35235902	chr1:152920956-152920957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377505813	chr1:152920963-152920964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192750990	chr1:152921065-152921066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185452616	chr1:152921078-152921079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113527752	chr1:152921094-152921095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181384327	chr1:152921105-152921106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186014078	chr1:152921108-152921109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547776058	chr1:152921147-152921148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188522717	chr1:152921165-152921166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570981035	chr1:152921251-152921252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370340079	chr1:152921333-152921334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374679762	chr1:152921341-152921342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533231446	chr1:152921342-152921343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	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
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	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
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
Breast cancer	21611746	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
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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
Follicular lymphoma	18703704	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
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152916400-152920800	Weak transcription	HMEC	breast
2	chr1:152919400-152921200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:152919600-152921400	Weak transcription	NHEK	skin
4	chr1:152919800-152920800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:152920200-152922600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:152920800-152922400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:152920800-152922400	Enhancers	HMEC	breast
8	chr1:152921200-152922200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:152921400-152922400	Enhancers	NHEK	skin
10	chr1:152922200-152924400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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