Variant report

Variant	esv33513
Chromosome Location	chr11:5034618-5034873
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	CEBPB	chr11:5034276-5034626	HepG2	liver:	n/a	chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034449 chr11:5034438-5034447 chr11:5034438-5034449 chr11:5034438-5034447 chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034447
2	CEBPB	chr11:5034272-5034625	IMR90	lung:	n/a	chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034449 chr11:5034438-5034447 chr11:5034438-5034449 chr11:5034438-5034447 chr11:5034438-5034447 chr11:5034436-5034449 chr11:5034436-5034447
3	CTCF	chr11:5034658-5034763	K562	blood:	n/a	n/a
4	CTCF	chr11:5034671-5034841	K562	blood:	n/a	n/a
5	RAD21	chr11:5034570-5034819	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr11:5034593-5034837	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	11:5033143-5038367..11:5243048-5250847	Hela-S3	cervix:
2	11:5033143-5038367..11:5250847-5268367	Hela-S3	cervix:
3	11:4789513-4794705..11:5033143-5038367	K562	blood:
4	11:4778081-4789138..11:5033143-5038367	K562	blood:
5	11:5033143-5038367..11:5363591-5368290	Hela-S3	cervix:
6	11:5033143-5038367..11:5721056-5732713	GM12878	blood:
7	11:5033143-5038367..11:5527719-5533869	Hela-S3	cervix:
8	11:5033143-5038367..11:5600743-5604452	Hela-S3	cervix:
9	11:5033143-5038367..11:5714465-5718134	Hela-S3	cervix:
10	11:5018576-5020673..11:5033143-5038367	GM12878	blood:
11	11:5033143-5038367..11:5700314-5707362	K562	blood:
12	11:5033143-5038367..11:5566274-5571131	Hela-S3	cervix:

Variant related genes	Relation type
OR51P1P	TF binding region
ENSG00000223609	chromatin interactions
ENSG00000187747	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000176798	chromatin interactions
ENSG00000181616	chromatin interactions
ENSG00000244734	chromatin interactions
ENSG00000175520	chromatin interactions
ENSG00000188069	chromatin interactions
ENSG00000167346	chromatin interactions
ENSG00000242180	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000221031	chromatin interactions

Extended variants
information (count: 9 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2442414	chr11:5034626-5034627	Inactive region	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17342397	chr11:5034654-5034655	Inactive region	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2442413	chr11:5034662-5034663	Inactive region	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143177773	chr11:5034665-5034666	Inactive region	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs2442412	chr11:5034741-5034742	Inactive region	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192279868	chr11:5034757-5034758	Inactive region	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs371772009	chr11:5034776-5034777	Inactive region	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs142348594	chr11:5034785-5034786	Inactive region	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs79389533	chr11:5034819-5034820	Inactive region	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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