Variant report

Variant	esv3384506
Chromosome Location	chr11:18703609-18713322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:18713254-18713595	K562	blood:	n/a	n/a
2	ARID3A	chr11:18707118-18707120	K562	blood:	n/a	n/a
3	ATF1	chr11:18707730-18707912	K562	blood:	n/a	n/a
4	ATF1	chr11:18713270-18713671	K562	blood:	n/a	n/a
5	CTCF	chr11:18703881-18703947	LNCaP	prostate:	n/a	n/a
6	CUX1	chr11:18713219-18713769	K562	blood:	n/a	n/a
7	EP300	chr11:18707621-18707949	K562	blood:	n/a	n/a
8	EP300	chr11:18713143-18713679	K562	blood:	n/a	n/a
9	GATA2	chr11:18707658-18707919	SH-SY5Y	brain:	n/a	n/a
10	GATA3	chr11:18707577-18707908	SH-SY5Y	brain:	n/a	n/a
11	JUN	chr11:18713199-18713584	K562	blood:	n/a	n/a
12	JUND	chr11:18713156-18713757	K562	blood:	n/a	n/a
13	JUND	chr11:18707694-18707912	K562	blood:	n/a	n/a
14	MAFK	chr11:18712467-18712683	HepG2	liver:	n/a	n/a
15	MAX	chr11:18713175-18713313	K562	blood:	n/a	n/a
16	POLR2A	chr11:18707958-18708088	GM12878	blood:	n/a	n/a
17	RCOR1	chr11:18713157-18713492	K562	blood:	n/a	n/a
18	RCOR1	chr11:18707690-18708008	K562	blood:	n/a	n/a
19	REST	chr11:18711804-18711900	PANC-1	pancreas:	n/a	n/a
20	STAT1	chr11:18713165-18713758	K562	blood:	n/a	n/a
21	STAT1	chr11:18713240-18713783	Hela-S3	cervix:	n/a	n/a
22	STAT3	chr11:18708081-18708281	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT5A	chr11:18713286-18713845	K562	blood:	n/a	n/a
24	STAT5A	chr11:18713244-18713759	K562	blood:	n/a	n/a
25	TAL1	chr11:18713160-18713436	K562	blood:	n/a	n/a
26	TBL1XR1	chr11:18713267-18713621	K562	blood:	n/a	n/a
27	TEAD4	chr11:18713143-18713553	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18706164..18709114-chr11:18715309..18716855,2	K562	blood:
2	chr11:18712732..18716294-chr11:18718075..18720979,3	MCF-7	breast:
3	chr11:18697921..18700898-chr11:18704193..18706842,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM86A	TF binding region
ENSG00000151117	chromatin interactions

Extended variants
information (count: 389 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528556054	chr11:18703697-18703698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370843188	chr11:18703706-18703707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10832968	chr11:18703720-18703721	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542836890	chr11:18703810-18703811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561663596	chr11:18703834-18703835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573453181	chr11:18703925-18703926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183096974	chr11:18703927-18703928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187769225	chr11:18703951-18703952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540872167	chr11:18703969-18703970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565287529	chr11:18704015-18704016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12292438	chr11:18704031-18704032	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs375185208	chr11:18704088-18704089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368470787	chr11:18704090-18704091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375554285	chr11:18704091-18704092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71443709	chr11:18704097-18704098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201471621	chr11:18704100-18704101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2121390	chr11:18704116-18704117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551119439	chr11:18704160-18704161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562951281	chr11:18704181-18704182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529936632	chr11:18704193-18704194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191079890	chr11:18704196-18704197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112978324	chr11:18704200-18704201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117335645	chr11:18704202-18704203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182812431	chr11:18704207-18704208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112074807	chr11:18704223-18704224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570133900	chr11:18704239-18704240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11607540	chr11:18704279-18704280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187710977	chr11:18704291-18704292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376622504	chr11:18704319-18704320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536894952	chr11:18704353-18704354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554865654	chr11:18704376-18704377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573344336	chr11:18704510-18704511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540583857	chr11:18704518-18704519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112451769	chr11:18704520-18704521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577340967	chr11:18704543-18704544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192867232	chr11:18704567-18704568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184864422	chr11:18704572-18704573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530133960	chr11:18704598-18704599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542263311	chr11:18704605-18704606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552924929	chr11:18704607-18704608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527452076	chr11:18704614-18704615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577747286	chr11:18704618-18704619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372358948	chr11:18704674-18704675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113433677	chr11:18704724-18704725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570396245	chr11:18704796-18704797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563586652	chr11:18704809-18704810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549359369	chr11:18704835-18704836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1446658	chr11:18704862-18704863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564109821	chr11:18704867-18704868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2166522	chr11:18704880-18704881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18687000-18719800	Weak transcription	Ovary	ovary
2	chr11:18699600-18705400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:18703400-18704200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:18703400-18719800	Weak transcription	Right Atrium	heart
5	chr11:18705400-18707400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:18705800-18706400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:18705800-18706400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:18705800-18707400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:18706000-18706400	Enhancers	K562	blood
10	chr11:18706400-18707600	Weak transcription	K562	blood
11	chr11:18706800-18707400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:18707000-18707400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:18707000-18707400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:18707600-18708000	Enhancers	K562	blood
15	chr11:18708000-18712600	Weak transcription	K562	blood
16	chr11:18712600-18713600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:18712600-18713800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:18712600-18714400	Enhancers	K562	blood
19	chr11:18713000-18713200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:18713200-18713400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr11:18713200-18713400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:18713200-18713400	Enhancers	HSMMtube	muscle
23	chr11:18713200-18713400	Enhancers	Osteobl	bone
24	chr11:18713200-18713600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:18713200-18713600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr11:18713200-18713600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:18713200-18719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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