Variant report

Variant	esv3423501
Chromosome Location	chr11:18732387-18732544
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	BHLHE40	chr11:18732171-18732492	GM12878	blood:	n/a	n/a
2	EBF1	chr11:18732226-18732454	GM12878	blood:	n/a	n/a
3	EP300	chr11:18732271-18732469	GM12878	blood:	n/a	n/a
4	MAX	chr11:18732157-18732435	GM12878	blood:	n/a	n/a
5	STAT1	chr11:18732158-18732418	GM12878	blood:	n/a	chr11:18732382-18732394
6	ZNF143	chr11:18732231-18732525	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18720636..18723430-chr11:18730880..18733085,2	K562	blood:
2	chr11:18726495..18728843-chr11:18730635..18733881,3	MCF-7	breast:

Variant related genes	Relation type
IGSF22	TF binding region
ENSG00000254966	chromatin interactions
ENSG00000151117	chromatin interactions
ENSG00000179057	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529192128	chr11:18732402-18732403	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs372036022	chr11:18732426-18732427	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs61457352	chr11:18732427-18732428	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184533166	chr11:18732462-18732463	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs551481592	chr11:18732482-18732483	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs569790633	chr11:18732499-18732500	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs536607207	chr11:18732517-18732518	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18728400-18742200	Weak transcription	Gastric	stomach
2	chr11:18728600-18742200	Weak transcription	Right Ventricle	heart
3	chr11:18728600-18742600	Weak transcription	Aorta	Aorta
4	chr11:18728800-18735200	Weak transcription	Fetal Stomach	stomach
5	chr11:18728800-18735400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:18728800-18741200	Weak transcription	Fetal Intestine Small	intestine
7	chr11:18728800-18742000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:18728800-18742000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:18728800-18742400	Weak transcription	Fetal Kidney	kidney
10	chr11:18729000-18742200	Weak transcription	Ovary	ovary
11	chr11:18729200-18742000	Weak transcription	Fetal Brain Female	brain
12	chr11:18729600-18735200	Weak transcription	Spleen	Spleen
13	chr11:18732200-18732400	Flanking Active TSS	GM12878-XiMat	blood
14	chr11:18732400-18732600	Enhancers	GM12878-XiMat	blood

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