Variant report

Variant	esv33877
Chromosome Location	chr11:5021136-5028584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	11:5020673-5032983..11:5527719-5533869	K562	blood:
2	chr11:4208337..4209114-chr11:5025486..5026266,2	MCF-7	breast:
3	chr11:4658272..4658813-chr11:5025400..5026262,2	MCF-7	breast:
4	chr11:4647527..4648151-chr11:5025801..5026495,2	MCF-7	breast:
5	11:4869840-4870943..11:5020673-5032983	K562	blood:
6	chr11:4208282..4208943-chr11:5025361..5026418,3	K562	blood:
7	11:5020673-5032983..11:5721056-5732713	K562	blood:
8	chr11:5016770..5019630-chr11:5023396..5025327,2	K562	blood:
9	11:4900708-4903421..11:5020673-5032983	K562	blood:
10	chr11:4647199..4648030-chr11:5025327..5026179,2	K562	blood:
11	chr11:4657777..4658387-chr11:5025582..5026377,4	MCF-7	breast:
12	chr11:4657872..4658731-chr11:5025387..5026540,3	K562	blood:
13	11:4778081-4789138..11:5020673-5032983	K562	blood:
14	11:5020673-5032983..11:5700314-5707362	K562	blood:
15	11:4789513-4794705..11:5020673-5032983	K562	blood:
16	11:5020673-5032983..11:5566274-5571131	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175520	chromatin interactions
ENSG00000132274	chromatin interactions
ENSG00000181616	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000176922	chromatin interactions
ENSG00000188069	chromatin interactions
ENSG00000176900	chromatin interactions
ENSG00000167346	chromatin interactions
ENSG00000254480	chromatin interactions

Extended variants
information (count: 301 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544371317	chr11:5021143-5021144	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs374338854	chr11:5021187-5021188	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs189617942	chr11:5021200-5021201	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs544682463	chr11:5021217-5021218	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs368608438	chr11:5021233-5021234	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs16908257	chr11:5021246-5021247	Inactive region	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556605802	chr11:5021283-5021284	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs576555624	chr11:5021338-5021339	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs527606401	chr11:5021358-5021359	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs113496682	chr11:5021367-5021368	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs145866524	chr11:5021376-5021377	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs545562597	chr11:5021397-5021398	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs2445291	chr11:5021407-5021408	Inactive region	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531398115	chr11:5021424-5021425	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs373715738	chr11:5021444-5021445	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs572585094	chr11:5021446-5021447	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs115805265	chr11:5021455-5021456	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs182028559	chr11:5021457-5021458	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs541691968	chr11:5021459-5021460	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs376425408	chr11:5021468-5021469	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs35648951	chr11:5021469-5021470	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs386372966	chr11:5021470-5021471	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs397737281	chr11:5021472-5021473	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs371055282	chr11:5021506-5021507	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs539872107	chr11:5021508-5021509	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs555442093	chr11:5021558-5021559	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs73390917	chr11:5021575-5021576	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs187582055	chr11:5021576-5021577	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs56654633	chr11:5021720-5021721	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs11035071	chr11:5021729-5021730	Inactive region	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146637348	chr11:5021743-5021744	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs141388325	chr11:5021785-5021786	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs374088596	chr11:5021789-5021790	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs11035072	chr11:5021856-5021857	Inactive region	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs556748729	chr11:5021862-5021863	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs2445292	chr11:5021864-5021865	Inactive region	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139099838	chr11:5021867-5021868	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs376367474	chr11:5021872-5021873	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs145006321	chr11:5021890-5021891	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs559927473	chr11:5021900-5021901	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs571984730	chr11:5021916-5021917	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs369686562	chr11:5021936-5021937	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs375392170	chr11:5021941-5021942	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs544839340	chr11:5021998-5021999	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs2445293	chr11:5022036-5022037	Inactive region	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531459115	chr11:5022056-5022057	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs78337820	chr11:5022058-5022059	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs556717197	chr11:5022077-5022078	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs564707116	chr11:5022184-5022185	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs533302089	chr11:5022194-5022195	Inactive region	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5025800-5026400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:5026000-5026800	Enhancers	NHEK	skin
3	chr11:5026200-5026800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:5026200-5026800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:5026200-5026800	Enhancers	HMEC	breast
6	chr11:5026400-5026800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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