Variant report

Variant	esv2516985
Chromosome Location	chr1:169590359-169590666
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	chr1:169590665-169590720	ProgFib	skin:	n/a	n/a
2	CTCF	chr1:169590400-169590550	K562	blood:	n/a	n/a
3	CTCF	chr1:169590445-169590662	GM19239	blood:	n/a	n/a
4	CTCF	chr1:169590360-169590510	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr1:169590307-169590387	GM19239	blood:	n/a	n/a
6	MYC	chr1:169590363-169590460	MCF-7	breast:	n/a	n/a
7	MYC	chr1:169590637-169590668	MCF-7	breast:	n/a	n/a
8	MYC	chr1:169590506-169590757	MCF-7	breast:	n/a	n/a
9	MYC	chr1:169590406-169590607	MCF-7	breast:	n/a	n/a
10	MYC	chr1:169590469-169590483	MCF-7	breast:	n/a	n/a
11	MYC	chr1:169590625-169590631	MCF-7	breast:	n/a	n/a
12	MYC	chr1:169590423-169590640	MCF-7	breast:	n/a	n/a
13	NR2C2	chr1:169589804-169590804	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:169589919-169590649	A549	lung:	n/a	n/a
15	POLR2A	chr1:169590528-169590574	HepG2	liver:	n/a	n/a
16	POLR2A	chr1:169590273-169590800	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:169590299-169590512	Gliobla	brain:	n/a	n/a
18	SUZ12	chr1:169590353-169590689	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SELP	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569458395	chr1:169590370-169590371	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs539974563	chr1:169590388-169590389	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs576886649	chr1:169590404-169590405	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561274491	chr1:169590411-169590412	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs200666610	chr1:169590416-169590417	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs573337068	chr1:169590418-169590419	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs375216660	chr1:169590429-169590430	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534319107	chr1:169590442-169590443	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs186472141	chr1:169590495-169590496	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs573060272	chr1:169590517-169590518	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs138330942	chr1:169590589-169590590	ZNF genes & repeats Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs563559401	chr1:169590601-169590602	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575454231	chr1:169590605-169590606	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs12067152	chr1:169590635-169590636	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs563955486	chr1:169590638-169590639	ZNF genes & repeats Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169584200-169592600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:169585200-169593400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:169585400-169592800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:169585600-169592200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:169588400-169590600	Weak transcription	Primary T cells from cord blood	blood
6	chr1:169588400-169591600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:169588600-169592200	Weak transcription	HUVEC	blood vessel
8	chr1:169588800-169592200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:169589800-169590800	Enhancers	Lung	lung
10	chr1:169590000-169590600	Weak transcription	Dnd41	blood
11	chr1:169590000-169590800	ZNF genes & repeats	Pancreas	Pancrea
12	chr1:169590200-169590800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:169590200-169590800	ZNF genes & repeats	Esophagus	oesophagus
14	chr1:169590600-169591000	Enhancers	Primary T cells from cord blood	blood
15	chr1:169590600-169593600	Enhancers	Dnd41	blood

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