Variant report

Variant	esv2358820
Chromosome Location	chr11:16759079-16759080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:16759016-16761619	Hela-S3	cervix:	n/a	n/a
2	MTA3	chr11:16759067-16761075	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:16758929-16761360	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:16758966-16761509	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:16759037-16759182	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr11:16759057-16761207	GM18951	blood:	n/a	n/a
7	POLR2A	chr11:16759028-16762227	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:16759030-16761291	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:16758923-16761234	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16758591..16760603-chr11:16767705..16770756,3	MCF-7	breast:
2	chr11:16728614..16731419-chr11:16757073..16759306,2	K562	blood:
3	chr11:16758633..16760672-chr12:2911845..2914761,2	MCF-7	breast:
4	chr11:16627961..16630692-chr11:16757608..16759355,2	K562	blood:
5	chr11:16759049..16761712-chr11:16777478..16779237,2	MCF-7	breast:

No data

Variant related genes	Relation type
C11orf58	TF binding region
ENSG00000110693	chromatin interactions
ENSG00000110696	chromatin interactions
ENSG00000258092	chromatin interactions
ENSG00000004478	chromatin interactions

Extended variants
information (count: 0)
Associated
traits (count: 52 )

No data

Variant related diseases (count:52)

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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16748200-16759400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:16759000-16759200	Enhancers	Primary T cells from cord blood	blood
3	chr11:16759000-16759200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr11:16759000-16759200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr11:16759000-16759200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr11:16759000-16759200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:16759000-16759200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:16759000-16759200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:16759000-16759200	Enhancers	Liver	Liver
10	chr11:16759000-16759200	Enhancers	Brain Substantia Nigra	brain
11	chr11:16759000-16759200	Enhancers	Colon Smooth Muscle	Colon
12	chr11:16759000-16759200	Enhancers	Fetal Brain Male	brain
13	chr11:16759000-16759200	Enhancers	Fetal Stomach	stomach
14	chr11:16759000-16759200	Enhancers	Fetal Thymus	thymus
15	chr11:16759000-16759200	Enhancers	Dnd41	blood
16	chr11:16759000-16759200	Enhancers	GM12878-XiMat	blood
17	chr11:16759000-16759200	Enhancers	HMEC	breast
18	chr11:16759000-16759200	Enhancers	HUVEC	blood vessel
19	chr11:16759000-16759400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:16759000-16761200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:16759000-16761200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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