Variant report

Variant	nsv526034
Chromosome Location	chr11:19049478-19075627
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	CBX3	chr11:19049746-19050118	HCT-116	colon:	n/a	n/a
2	CEBPB	chr11:19070945-19071259	Hela-S3	cervix:	n/a	chr11:19071079-19071090
3	CEBPB	chr11:19070121-19070197	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr11:19075539-19075817	IMR90	lung:	n/a	chr11:19075655-19075666
5	CEBPB	chr11:19075550-19075793	A549	lung:	n/a	chr11:19075655-19075666
6	CEBPB	chr11:19070928-19071245	K562	blood:	n/a	chr11:19071079-19071090
7	CEBPB	chr11:19075511-19075778	K562	blood:	n/a	chr11:19075655-19075666
8	CEBPB	chr11:19075566-19075841	MCF-7	breast:	n/a	chr11:19075655-19075666
9	CEBPB	chr11:19049458-19049658	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr11:19070911-19071248	H1-hESC	embryonic stem cell:	n/a	chr11:19071079-19071090
11	CEBPB	chr11:19070928-19071353	HepG2	liver:	n/a	chr11:19071079-19071090
12	CEBPB	chr11:19075503-19075812	HepG2	liver:	n/a	chr11:19075655-19075666
13	CEBPB	chr11:19070915-19071272	IMR90	lung:	n/a	chr11:19071079-19071090
14	CEBPB	chr11:19070943-19071260	A549	lung:	n/a	chr11:19071079-19071090
15	CTCF	chr11:19063751-19063782	GM13976	blood:	n/a	n/a
16	CTCF	chr11:19050543-19050697	H1-hESC	embryonic stem cell:	n/a	chr11:19050615-19050633 chr11:19050618-19050631
17	CTCF	chr11:19063785-19063801	GM13976	blood:	n/a	n/a
18	CTCF	chr11:19050588-19050637	Hela-S3	cervix:	n/a	chr11:19050615-19050633 chr11:19050618-19050631
19	CTCF	chr11:19059069-19059163	K562	blood:	n/a	n/a
20	CTCF	chr11:19050540-19050690	RPTEC	kidney:	n/a	chr11:19050615-19050633 chr11:19050618-19050631
21	CTCF	chr11:19050560-19050710	HRPEpiC	eye:	n/a	chr11:19050615-19050633 chr11:19050618-19050631
22	CTCF	chr11:19050563-19050659	NHEK	skin:	n/a	chr11:19050615-19050633 chr11:19050618-19050631
23	CTCF	chr11:19050440-19050590	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr11:19050592-19050656	K562	blood:	n/a	chr11:19050615-19050633 chr11:19050618-19050631
25	CTCF	chr11:19058980-19059130	HMEC	breast:	n/a	n/a
26	CTCF	chr11:19050586-19050631	MCF-7	breast:	n/a	chr11:19050618-19050631
27	CTCF	chr11:19050610-19050623	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:19059078-19059156	NHEK	skin:	n/a	n/a
29	E2F4	chr11:19049744-19050029	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr11:19064104-19064248	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr11:19068901-19069013	MCF10A-Er-Src	breast:	n/a	n/a
32	EP300	chr11:19049434-19050123	Hela-S3	cervix:	n/a	chr11:19049490-19049499 chr11:19049491-19049500
33	FOS	chr11:19049338-19050179	MCF10A-Er-Src	breast:	n/a	chr11:19049490-19049500 chr11:19049489-19049501 chr11:19049491-19049500 chr11:19049491-19049499 chr11:19049492-19049499 chr11:19049489-19049500
34	FOS	chr11:19049338-19050209	MCF10A-Er-Src	breast:	n/a	chr11:19049490-19049500 chr11:19049489-19049501 chr11:19049491-19049500 chr11:19049491-19049499 chr11:19049492-19049499 chr11:19049489-19049500
35	FOS	chr11:19074474-19074554	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:19049335-19050231	MCF10A-Er-Src	breast:	n/a	chr11:19049490-19049500 chr11:19049489-19049501 chr11:19049491-19049500 chr11:19049491-19049499 chr11:19049492-19049499 chr11:19049489-19049500
37	FOS	chr11:19049348-19050179	MCF10A-Er-Src	breast:	n/a	chr11:19049490-19049500 chr11:19049489-19049501 chr11:19049491-19049500 chr11:19049491-19049499 chr11:19049492-19049499 chr11:19049489-19049500
38	FOS	chr11:19049253-19050144	HUVEC	blood vessel:	n/a	chr11:19049490-19049500 chr11:19049489-19049501 chr11:19049491-19049500 chr11:19049491-19049499 chr11:19049492-19049499 chr11:19049489-19049500
39	FOSL1	chr11:19049805-19050165	HCT-116	colon:	n/a	n/a
40	FOSL1	chr11:19049612-19050156	HCT-116	colon:	n/a	n/a
41	FOSL2	chr11:19049781-19050066	HepG2	liver:	n/a	n/a
42	FOSL2	chr11:19049718-19050173	MCF-7	breast:	n/a	n/a
43	FOSL2	chr11:19049327-19050160	A549	lung:	n/a	chr11:19049490-19049500 chr11:19049489-19049501 chr11:19049491-19049500 chr11:19049491-19049499 chr11:19049492-19049499
44	FOSL2	chr11:19049814-19050077	A549	lung:	n/a	n/a
45	FOXA1	chr11:19049760-19050140	HepG2	liver:	n/a	chr11:19050022-19050037
46	FOXA1	chr11:19049836-19050128	HepG2	liver:	n/a	chr11:19050022-19050037
47	FOXA1	chr11:19049749-19050093	HepG2	liver:	n/a	chr11:19050022-19050037
48	FOXA1	chr11:19049734-19050133	HepG2	liver:	n/a	chr11:19050022-19050037
49	FOXA2	chr11:19049677-19050196	A549	lung:	n/a	n/a
50	FOXA2	chr11:19049814-19050052	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRGPRX2-1	chr11:19051244-19051985	NONHSAT018325

Variant related genes	Relation type
ENSG00000255424	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1039516	chr11:19049478-19049479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117722667	chr11:19049499-19049500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374034823	chr11:19049505-19049506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142702575	chr11:19049574-19049575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575263589	chr11:19049583-19049584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58289452	chr11:19049610-19049611	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs180992452	chr11:19049637-19049638	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs75633469	chr11:19049678-19049679	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371996574	chr11:19049730-19049731	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs573307505	chr11:19049748-19049749	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs185282869	chr11:19049765-19049766	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs562481886	chr11:19049776-19049777	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs540422747	chr11:19049778-19049779	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545306617	chr11:19049807-19049808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555247931	chr11:19049828-19049829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80315468	chr11:19049835-19049836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531201725	chr11:19049873-19049874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549725767	chr11:19049891-19049892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151021350	chr11:19049895-19049896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368770181	chr11:19049923-19049924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115396872	chr11:19049940-19049941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188583730	chr11:19049948-19049949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538764109	chr11:19049963-19049964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552903796	chr11:19050015-19050016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181342316	chr11:19050028-19050029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563601716	chr11:19050117-19050118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61580154	chr11:19050118-19050119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565482085	chr11:19050182-19050183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530694364	chr11:19050194-19050195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375758959	chr11:19050195-19050196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185865744	chr11:19050225-19050226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554486464	chr11:19050259-19050260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577467431	chr11:19050265-19050266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192002826	chr11:19050314-19050315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7942424	chr11:19050331-19050332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576838424	chr11:19050346-19050347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549213317	chr11:19050347-19050348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11825508	chr11:19050354-19050355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563260835	chr11:19050356-19050357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545244320	chr11:19050361-19050362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529749939	chr11:19050393-19050394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67345452	chr11:19050398-19050399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150149119	chr11:19050399-19050400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575192453	chr11:19050417-19050418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377720977	chr11:19050427-19050428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114911956	chr11:19050465-19050466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571761054	chr11:19050473-19050474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532618691	chr11:19050560-19050561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550698905	chr11:19050572-19050573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147814297	chr11:19050574-19050575	Enhancers	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	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19046600-19050600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:19047200-19050000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:19048400-19049800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:19048400-19050800	Enhancers	NHEK	skin
5	chr11:19048600-19049600	Weak transcription	Stomach Mucosa	stomach
6	chr11:19048600-19050600	Enhancers	HMEC	breast
7	chr11:19048800-19049600	Weak transcription	NHDF-Ad	bronchial
8	chr11:19048800-19050000	Enhancers	NH-A	brain
9	chr11:19048800-19050600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:19048800-19050600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:19049400-19049800	Enhancers	Hela-S3	cervix
12	chr11:19049600-19049800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:19049600-19049800	Enhancers	HUVEC	blood vessel
14	chr11:19049600-19049800	Enhancers	NHDF-Ad	bronchial
15	chr11:19049600-19049800	Flanking Active TSS	Osteobl	bone
16	chr11:19049600-19050000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr11:19049600-19050000	Enhancers	Esophagus	oesophagus
18	chr11:19049600-19050000	Enhancers	Stomach Mucosa	stomach
19	chr11:19049800-19050400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:19050400-19051800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:19051200-19051800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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