Variant report

Variant	esv21395
Chromosome Location	chr1:165913041-165915341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:165912933-165913073	K562	blood:	n/a	n/a
2	STAT3	chr1:165914142-165914199	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:165914462-165914512	HEEpiC	esophagus:	n/a
2	chr1:165914462-165914512	HEK293	kidney:	embryo
3	chr1:165914462-165914512	HCPEpiC	choroid plexus:	n/a
4	chr1:165914462-165914512	MCF-7	breast:	n/a
5	chr1:165914462-165914512	PFSK-1	brain:	n/a
6	chr1:165914462-165914512	A549	lung:	n/a
7	chr1:165914462-165914512	Caco-2	colon:	n/a
8	chr1:165914462-165914512	SK-N-SH	brain:	n/a
9	chr1:165914462-165914512	AoSMC	blood vessel:	n/a
10	chr1:165914462-165914512	Jurkat	blood:	n/a
11	chr1:165914462-165914512	HIPEpiC	eye:	n/a
12	chr1:165914462-165914512	CMK	blood:	n/a
13	chr1:165914462-165914512	HMEC	breast:	n/a
14	chr1:165914462-165914512	GM19239	blood:	n/a
15	chr1:165914462-165914512	ovcar-3	ovarian:	n/a
16	chr1:165914462-165914512	HCT-116	colon:	n/a
17	chr1:165914462-165914512	Hela-S3	cervix:	n/a
18	chr1:165914462-165914512	ProgFib	skin:	n/a
19	chr1:165914462-165914512	AG09319	gingival:	n/a
20	chr1:165914462-165914512	NHBE	bronchial:	n/a
21	chr1:165914462-165914512	H1-hESC	embryonic stem cell:	embryo
22	chr1:165914462-165914512	HNPCEpiC	eye:	n/a
23	chr1:165914462-165914512	SAEC	small airway:	n/a
24	chr1:165914462-165914512	AG04450	lung:	fetal
25	chr1:165914462-165914512	AG09309	skin:	n/a
26	chr1:165914462-165914512	PANC-1	pancreas:	n/a
27	chr1:165914462-165914512	Hepatocyte	liver:	n/a
28	chr1:165914462-165914512	NB4	blood:	n/a
29	chr1:165914462-165914512	SK-N-SH_RA	brain:	n/a
30	chr1:165914462-165914512	SKMC	muscle:	n/a
31	chr1:165914462-165914512	HUVEC	blood vessel:	n/a
32	chr1:165914462-165914512	GM06990	blood:	n/a
33	chr1:165914462-165914512	NHDF-neo	bronchial:	n/a
34	chr1:165914462-165914512	HRPEpiC	eye:	n/a
35	chr1:165914462-165914512	GM12878	blood:	n/a
36	chr1:165914462-165914512	U87	brain:	n/a
37	chr1:165914462-165914512	NT2-D1	testis:	n/a
38	chr1:165914462-165914512	GM12891	blood:	n/a
39	chr1:165914462-165914512	HPAEpiC	pulmonary alveolar:	n/a
40	chr1:165914462-165914512	IMR90	lung:	fetal
41	chr1:165914462-165914512	HL-60	blood:	n/a
42	chr1:165914462-165914512	ECC-1	luminal epithelium:	n/a
43	chr1:165914462-165914512	LNCaP	prostate:	n/a
44	chr1:165914462-165914512	NH-A	brain:	n/a
45	chr1:165914462-165914512	PrEC	prostate:	n/a
46	chr1:165914462-165914512	AG04449	skin:	fetal
47	chr1:165914462-165914512	BJ	skin:	n/a
48	chr1:165914462-165914512	K562	blood:	n/a
49	chr1:165914462-165914512	BE2_C	brain:	n/a
50	chr1:165914462-165914512	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165913492..165915109-chr1:165916340..165918396,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271527	TF binding region
ENSG00000271527	CpG island

Extended variants
information (count: 91 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113517929	chr1:165913057-165913058	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs371377985	chr1:165913067-165913068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs545578999	chr1:165913078-165913079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559123229	chr1:165913079-165913080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575982748	chr1:165913129-165913130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551134691	chr1:165913130-165913131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371449859	chr1:165913131-165913132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561114059	chr1:165913138-165913139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530242894	chr1:165913152-165913153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187225596	chr1:165913183-165913184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138248074	chr1:165913184-165913185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191601650	chr1:165913207-165913208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9793523	chr1:165913218-165913219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374891115	chr1:165913224-165913225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144002504	chr1:165913228-165913229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531486404	chr1:165913229-165913230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528096547	chr1:165913260-165913261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183677647	chr1:165913293-165913294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113453705	chr1:165913296-165913297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375171363	chr1:165913309-165913310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146902033	chr1:165913316-165913317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547184570	chr1:165913332-165913333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369163280	chr1:165913345-165913346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35738916	chr1:165913354-165913355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs375523042	chr1:165913355-165913356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185643438	chr1:165913361-165913362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559162218	chr1:165913362-165913363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371109042	chr1:165913368-165913369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199944432	chr1:165913389-165913390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190045395	chr1:165913415-165913416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538137674	chr1:165913449-165913450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386636388	chr1:165913475-165913476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55981801	chr1:165913476-165913477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12085378	chr1:165913489-165913490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs77406013	chr1:165913556-165913557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576890731	chr1:165913593-165913594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545627200	chr1:165913637-165913638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142978444	chr1:165913642-165913643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553135349	chr1:165913716-165913717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6683842	chr1:165913774-165913775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs545481123	chr1:165913781-165913782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73016841	chr1:165913802-165913803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561977413	chr1:165913880-165913881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs66471951	chr1:165913890-165913891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs367761720	chr1:165913895-165913896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547343159	chr1:165913909-165913910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551040854	chr1:165913985-165913986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539526955	chr1:165913988-165913989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12736768	chr1:165913995-165913996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575605823	chr1:165914101-165914102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165912200-165916600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165913000-165913800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:165913000-165914000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:165913000-165914400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:165913000-165915600	Weak transcription	GM12878-XiMat	blood
6	chr1:165913800-165914000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:165914400-165915400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:165914600-165914800	Enhancers	H9 Cell Line	embryonic stem cell
9	chr1:165914600-165914800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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