Variant report

Variant	esv997323
Chromosome Location	chr11:5382785-5383930
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	BHLHE40	chr11:5383352-5383583	K562	blood:	n/a	n/a
2	EP300	chr11:5383370-5383809	Hela-S3	cervix:	n/a	n/a
3	EP300	chr11:5383298-5383498	K562	blood:	n/a	n/a
4	GATA2	chr11:5383292-5384109	HUVEC	blood vessel:	n/a	chr11:5383785-5383792 chr11:5383479-5383486 chr11:5383785-5383795 chr11:5383717-5383738 chr11:5383783-5383792 chr11:5383780-5383796 chr11:5383785-5383792 chr11:5383782-5383796 chr11:5383778-5383799 chr11:5383785-5383792 chr11:5383783-5383793 chr11:5383479-5383489
5	GATA3	chr11:5383278-5384003	SK-N-SH	brain:	n/a	chr11:5383785-5383792 chr11:5383479-5383486 chr11:5383785-5383795 chr11:5383717-5383738 chr11:5383783-5383792 chr11:5383780-5383796 chr11:5383785-5383792 chr11:5383778-5383799 chr11:5383785-5383792 chr11:5383783-5383793 chr11:5383479-5383489
6	GATA3	chr11:5383289-5383955	SK-N-SH	brain:	n/a	chr11:5383785-5383792 chr11:5383479-5383486 chr11:5383785-5383795 chr11:5383717-5383738 chr11:5383783-5383792 chr11:5383780-5383796 chr11:5383785-5383792 chr11:5383778-5383799 chr11:5383785-5383792 chr11:5383783-5383793 chr11:5383479-5383489
7	POLR2A	chr11:5383749-5383984	HCT-116	colon:	n/a	n/a
8	POLR2A	chr11:5383391-5383426	K562	blood:	n/a	n/a
9	PRDM1	chr11:5383345-5383590	Hela-S3	cervix:	n/a	chr11:5383479-5383494 chr11:5383434-5383449
10	RCOR1	chr11:5383274-5383676	K562	blood:	n/a	n/a
11	TBL1XR1	chr11:5383337-5383522	K562	blood:	n/a	n/a
12	USF2	chr11:5383414-5383603	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5382283..5382803-chr11:62608620..62609139,4	MCF-7	breast:
2	chr11:5382283..5383303-chr11:62608619..62609221,10	Hela-S3	cervix:
3	chr11:5382283..5382803-chr11:62608622..62609624,4	MCF-7	breast:
4	chr1:212997378..212997898-chr11:5382283..5382803,2	HCT-116	colon:
5	chr11:5381283..5382803-chr17:41398716..41402368,7	K562	blood:
6	chr10:103124107..103125128-chr11:5382283..5382803,4	HCT-116	colon:
7	chr11:5381283..5382803-chr17:41380385..41382126,2	K562	blood:
8	chr11:5381283..5382803-chr17:41463815..41467678,7	K562	blood:
9	chr11:5381283..5382803-chr5:133457468..133458988,2	K562	blood:
10	chr11:5381283..5382803-chr3:73159944..73161618,3	MCF-7	breast:
11	chr11:5381283..5382803-chr11:62607627..62609148,3	K562	blood:
12	chr11:5381283..5382803-chr3:73159067..73161609,3	K562	blood:
13	chr11:5381283..5382803-chr3:73158604..73161608,4	K562	blood:
14	chr11:5381283..5382803-chr17:41464203..41466198,2	MCF-7	breast:
15	chr11:5151592..5153371-chr11:5383918..5386236,2	K562	blood:
16	chr11:5382283..5382803-chr2:16124613..16125133,2	MCF-7	breast:
17	chr11:5382283..5382803-chr18:21285383..21285903,2	Hela-S3	cervix:
18	chr11:5382283..5383283-chr3:73160073..73160610,2	Hela-S3	cervix:
19	chr11:5382283..5382803-chr11:62608619..62609221,11	HCT-116	colon:
20	chr11:5381303..5382803-chr11:62607635..62609203,2	MCF-7	breast:
21	11:5250847-5268367..11:5380014-5384338	H1-hESC	embryonic stem cell:	embryo
22	chr11:5382283..5383303-chr3:73159935..73160633,6	HCT-116	colon:
23	chr11:5382303..5383283-chr3:73159952..73160632,4	NB4	blood:
24	chr11:5381283..5382803-chr11:61276233..61277753,2	K562	blood:
25	chr11:5382803..5384303-chr11:62607722..62610627,2	K562	blood:
26	11:4789513-4794705..11:5380014-5384338	H1-hESC	embryonic stem cell:	embryo
27	chr11:5382283..5382803-chr3:73159935..73160621,4	MCF-7	breast:
28	chr11:5381283..5382803-chr17:41463769..41467201,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR51B6-2	chr11:5383845-5384079	NONHSAT017681

Variant related genes	Relation type
ENSG00000236248	TF binding region
ENSG00000223247	chromatin interactions
ENSG00000188069	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000260629	chromatin interactions
ENSG00000223609	chromatin interactions
ENSG00000229988	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000222414	chromatin interactions
ENSG00000204950	chromatin interactions
ENSG00000236383	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77425046	chr11:5382790-5382791	Enhancers Strong transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs530116807	chr11:5382791-5382792	Enhancers Strong transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs144280863	chr11:5382793-5382794	Enhancers Strong transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs185018856	chr11:5382794-5382795	Enhancers Strong transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs12802814	chr11:5382804-5382805	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148333630	chr11:5382821-5382822	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs17270517	chr11:5382834-5382835	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs71468028	chr11:5382866-5382867	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs79780644	chr11:5382867-5382868	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs568097211	chr11:5382932-5382933	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs181195694	chr11:5382934-5382935	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs71938234	chr11:5382978-5382979	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs373976629	chr11:5382979-5382980	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs377756375	chr11:5382980-5382981	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs371200748	chr11:5382981-5382982	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs72447432	chr11:5382990-5382991	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs386750146	chr11:5382991-5382992	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs2736556	chr11:5382992-5382993	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs2736555	chr11:5383015-5383016	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs185826522	chr11:5383033-5383034	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs577430575	chr11:5383041-5383042	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs79497807	chr11:5383049-5383050	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs552924791	chr11:5383053-5383054	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs574537632	chr11:5383054-5383055	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs535484980	chr11:5383060-5383061	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs2736554	chr11:5383090-5383091	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115110932	chr11:5383096-5383097	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs531039662	chr11:5383109-5383110	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs715792	chr11:5383120-5383121	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs72874669	chr11:5383131-5383132	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2723380	chr11:5383160-5383161	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs4338558	chr11:5383196-5383197	Enhancers Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs72874670	chr11:5383220-5383221	Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs72874671	chr11:5383235-5383236	Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs568830606	chr11:5383240-5383241	Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs116166755	chr11:5383255-5383256	Enhancers Genic enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs558868779	chr11:5383282-5383283	Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs17355605	chr11:5383341-5383342	Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372143119	chr11:5383344-5383345	Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs190296678	chr11:5383382-5383383	Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs4910764	chr11:5383387-5383388	Enhancers Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4910765	chr11:5383403-5383404	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs386750147	chr11:5383453-5383454	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs200752426	chr11:5383454-5383455	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs542639002	chr11:5383455-5383456	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs4910767	chr11:5383459-5383460	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141932129	chr11:5383465-5383466	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs561924741	chr11:5383499-5383500	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs529225135	chr11:5383514-5383515	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs550271838	chr11:5383537-5383538	Enhancers Genic enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5382600-5383200	Strong transcription	K562	blood
2	chr11:5382600-5383600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:5382600-5384000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:5382800-5384000	Enhancers	Hela-S3	cervix
5	chr11:5382800-5384200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:5382800-5385600	Enhancers	NHDF-Ad	bronchial
7	chr11:5383000-5386600	Enhancers	NH-A	brain
8	chr11:5383000-5387400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:5383200-5383400	Enhancers	Osteobl	bone
10	chr11:5383200-5383800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:5383200-5383800	Enhancers	NHLF	lung
12	chr11:5383200-5388400	Genic enhancers	K562	blood
13	chr11:5383400-5383600	Enhancers	HUVEC	blood vessel
14	chr11:5383400-5383800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:5383400-5384200	Weak transcription	Osteobl	bone
16	chr11:5383800-5384200	Weak transcription	NHLF	lung
17	chr11:5383800-5384800	Weak transcription	HUVEC	blood vessel
18	chr11:5383800-5385000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:5383800-5385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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