Variant report

Variant	esv1831815
Chromosome Location	chr11:18978785-18993133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:18985505-18985506	K562	blood:	n/a	n/a
2	CHD2	chr11:18980168-18980255	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:18980266-18980292	Fibrobl	skin:	n/a	n/a
4	CTCF	chr11:18980219-18980331	GM19239	blood:	n/a	n/a
5	CTCF	chr11:18980237-18980331	GM19240	blood:	n/a	n/a
6	CTCF	chr11:18980224-18980331	GM19238	blood:	n/a	n/a
7	CTCF	chr11:18980230-18980333	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr11:18989550-18989639	GM20000	blood:	n/a	n/a
9	CTCF	chr11:18980222-18980312	ProgFib	skin:	n/a	n/a
10	CTCF	chr11:18980239-18980330	K562	blood:	n/a	n/a
11	CTCF	chr11:18980226-18980331	GM12892	blood:	n/a	n/a
12	CTCF	chr11:18980221-18980332	Gliobla	brain:	n/a	n/a
13	CTCF	chr11:18980265-18980298	NHEK	skin:	n/a	n/a
14	CTCF	chr11:18980240-18980312	MCF-7	breast:	n/a	n/a
15	CTCF	chr11:18980230-18980320	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:18980222-18980331	GM12891	blood:	n/a	n/a
17	CTCF	chr11:18980237-18980329	A549	lung:	n/a	n/a
18	CTCF	chr11:18980233-18980333	HepG2	liver:	n/a	n/a
19	CTCF	chr11:18980259-18980264	Fibrobl	skin:	n/a	n/a
20	E2F4	chr11:18986196-18986375	MCF10A-Er-Src	breast:	n/a	n/a
21	GATA3	chr11:18981100-18981298	SH-SY5Y	brain:	n/a	n/a
22	MAFK	chr11:18986291-18986350	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAFK	chr11:18985121-18985260	HepG2	liver:	n/a	n/a
24	MAFK	chr11:18981378-18981467	HepG2	liver:	n/a	n/a
25	MAFK	chr11:18981296-18981506	HepG2	liver:	n/a	n/a
26	MYC	chr11:18986312-18986489	MCF10A-Er-Src	breast:	n/a	n/a
27	MYC	chr11:18988153-18988230	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:18980950-18981058	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:18980245-18980302	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:18980107-18980595	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:18993050-18993328	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr11:18983140-18983207	MCF-7	breast:	n/a	n/a
33	SP1	chr11:18979974-18980395	H1-hESC	embryonic stem cell:	n/a	n/a
34	SPI1	chr11:18991356-18991659	HL-60	blood:	n/a	chr11:18991516-18991529
35	TCF12	chr11:18980074-18980368	H1-hESC	embryonic stem cell:	n/a	n/a
36	TEAD4	chr11:18979945-18980539	H1-hESC	embryonic stem cell:	n/a	n/a
37	TEAD4	chr11:18980071-18980437	ECC-1	luminal epithelium:	n/a	n/a
38	TEAD4	chr11:18979944-18980437	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr11:18980095-18980420	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000254738	TF binding region

Extended variants
information (count: 442 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540204829	chr11:18978813-18978814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73432553	chr11:18978825-18978826	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs377101471	chr11:18978837-18978838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533624438	chr11:18978993-18978994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6483558	chr11:18979001-18979002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570143729	chr11:18979029-18979030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs578032747	chr11:18979053-18979054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139185723	chr11:18979086-18979087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6483559	chr11:18979090-18979091	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12284674	chr11:18979111-18979112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534815556	chr11:18979114-18979115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546033657	chr11:18979152-18979153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147105109	chr11:18979153-18979154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552904565	chr11:18979164-18979165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147464856	chr11:18979171-18979172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182961084	chr11:18979194-18979195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557270265	chr11:18979199-18979200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575324183	chr11:18979201-18979202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542772696	chr11:18979268-18979269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7117865	chr11:18979344-18979345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554825409	chr11:18979359-18979360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572927386	chr11:18979378-18979379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116474273	chr11:18979395-18979396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564862846	chr11:18979401-18979402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs118131912	chr11:18979402-18979403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148083102	chr11:18979420-18979421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564040937	chr11:18979424-18979425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75512429	chr11:18979443-18979444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531127910	chr11:18979489-18979490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549140280	chr11:18979491-18979492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2007021	chr11:18979540-18979541	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs5790055	chr11:18979561-18979562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200763667	chr11:18979567-18979568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528526169	chr11:18979585-18979586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528637641	chr11:18979589-18979590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187548908	chr11:18979590-18979591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539052643	chr11:18979596-18979597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111498926	chr11:18979606-18979607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370760184	chr11:18979610-18979611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374011720	chr11:18979611-18979612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569105212	chr11:18979667-18979668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536157561	chr11:18979670-18979671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540465987	chr11:18979689-18979690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12792588	chr11:18979703-18979704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573113928	chr11:18979708-18979709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12285022	chr11:18979711-18979712	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558710199	chr11:18979714-18979715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532871635	chr11:18979745-18979746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12285066	chr11:18979793-18979794	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563932235	chr11:18979858-18979859	Enhancers Weak transcription	n/a	n/a	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18974800-18979400	Weak transcription	NHEK	skin
2	chr11:18975000-18979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:18978600-18979000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr11:18979000-18979400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:18979400-18979600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr11:18979400-18980000	Enhancers	NHEK	skin
7	chr11:18979400-18980800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:18979400-18981000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr11:18979400-18981000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr11:18979400-18981200	Enhancers	HMEC	breast
11	chr11:18979400-18981400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:18979600-18980800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:18979600-18981200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:18979800-18980600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr11:18979800-18980600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:18979800-18981000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:18979800-18981000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr11:18980000-18980400	Flanking Active TSS	NHEK	skin
19	chr11:18980400-18981400	Enhancers	NHEK	skin
20	chr11:18980600-18981000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr11:18980800-18981200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr11:18984800-18993200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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