Variant report

Variant	esv3415801
Chromosome Location	chr11:17721027-17721426
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	ATF3	chr11:17721100-17721405	K562	blood:	n/a	n/a
2	BHLHE40	chr11:17721100-17721426	K562	blood:	n/a	chr11:17721107-17721123
3	CBX3	chr11:17721090-17721463	K562	blood:	n/a	n/a
4	CHD2	chr11:17721136-17721445	K562	blood:	n/a	n/a
5	EGR1	chr11:17721134-17721341	K562	blood:	n/a	chr11:17721277-17721290
6	EP300	chr11:17721143-17721435	K562	blood:	n/a	n/a
7	FOS	chr11:17721168-17721397	MCF10A-Er-Src	breast:	n/a	n/a
8	FOSL1	chr11:17721091-17721388	K562	blood:	n/a	n/a
9	HCFC1	chr11:17721148-17721443	K562	blood:	n/a	n/a
10	JUN	chr11:17721139-17721396	K562	blood:	n/a	n/a
11	JUN	chr11:17721038-17721587	K562	blood:	n/a	n/a
12	JUND	chr11:17721074-17721487	K562	blood:	n/a	n/a
13	JUND	chr11:17721195-17721351	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr11:17721108-17721359	K562	blood:	n/a	n/a
15	MAX	chr11:17721078-17721401	K562	blood:	n/a	n/a
16	MAZ	chr11:17721130-17721504	K562	blood:	n/a	n/a
17	MYC	chr11:17721188-17721402	K562	blood:	n/a	n/a
18	POLR2A	chr11:17721251-17721359	K562	blood:	n/a	n/a
19	RCOR1	chr11:17721168-17721439	K562	blood:	n/a	n/a
20	RCOR1	chr11:17721237-17721241	K562	blood:	n/a	n/a
21	UBTF	chr11:17721211-17721342	K562	blood:	n/a	n/a
22	USF1	chr11:17721048-17721469	K562	blood:	n/a	chr11:17721107-17721123
23	USF1	chr11:17721098-17721434	K562	blood:	n/a	chr11:17721107-17721123
24	ZMIZ1	chr11:17721233-17721433	K562	blood:	n/a	n/a
25	ZNF143	chr11:17721111-17721403	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255335	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73420055	chr11:17721068-17721069	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370847161	chr11:17721076-17721077	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557814381	chr11:17721085-17721086	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs3858508	chr11:17721099-17721100	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6486391	chr11:17721121-17721122	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs555658888	chr11:17721127-17721128	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs111381828	chr11:17721177-17721178	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs11827664	chr11:17721276-17721277	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369097820	chr11:17721307-17721308	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs376349699	chr11:17721308-17721309	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs552880516	chr11:17721379-17721380	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
small cell lung cancer	20016488	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
T-cell prolymphocytic leukemia	19278963	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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17713200-17721800	Enhancers	Psoas Muscle	Psoas
2	chr11:17715200-17722000	Enhancers	HSMM	muscle
3	chr11:17717600-17721800	Enhancers	HSMMtube	muscle
4	chr11:17719000-17724400	Enhancers	Fetal Muscle Leg	muscle
5	chr11:17720600-17721200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr11:17720600-17721200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr11:17720800-17721200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:17720800-17721200	Enhancers	Hela-S3	cervix
9	chr11:17720800-17721600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr11:17720800-17721800	Enhancers	Placenta	Placenta
11	chr11:17720800-17721800	Enhancers	K562	blood
12	chr11:17721000-17721400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:17721000-17721800	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:17721000-17722200	Weak transcription	Fetal Lung	lung
15	chr11:17721200-17723200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:17721200-17723600	Enhancers	Skeletal Muscle Female	skeletal muscle

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