Variant report

Variant	esv2753762
Chromosome Location	chr11:10688217-10701438
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:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:10589192..10591636-chr11:10696263..10698924,2	K562	blood:
2	chr11:10699670..10701263-chr11:10703402..10706052,2	K562	blood:
3	chr11:10686058..10688524-chr11:10689302..10691752,2	MCF-7	breast:
4	chr11:10662540..10664082-chr11:10686222..10688544,2	K562	blood:
5	chr11:10699670..10701867-chr11:10703402..10705803,2	K562	blood:
6	chr11:10687877..10689556-chr11:10771110..10773825,2	K562	blood:
7	chr11:10689241..10690956-chr11:10698574..10700529,2	K562	blood:
8	chr11:10694517..10697367-chr11:10731815..10734225,2	K562	blood:
9	chr11:10687959..10690834-chr11:10758767..10760971,2	K562	blood:
10	chr11:10688907..10690488-chr11:10693556..10695062,2	K562	blood:
11	chr11:10693377..10695565-chr11:10697509..10699957,3	K562	blood:
12	chr11:10692446..10695017-chr11:10698457..10700738,2	K562	blood:
13	chr11:10691286..10695244-chr11:10695981..10700197,4	MCF-7	breast:
14	chr11:10688907..10690488-chr11:10693556..10695062,2	K562	blood:
15	chr11:10686058..10688524-chr11:10689302..10691752,2	MCF-7	breast:
16	chr11:10690084..10691721-chr11:10696494..10698749,2	K562	blood:
17	chr11:10699841..10701400-chr11:10708339..10710277,2	K562	blood:
18	chr11:10690084..10691721-chr11:10696494..10698749,2	K562	blood:
19	chr11:10679153..10681988-chr11:10698825..10701306,2	K562	blood:
20	chr11:10689514..10690158-chr5:36806169..36807035,2	MCF-7	breast:
21	chr11:10689604..10691853-chr11:10718013..10720548,2	K562	blood:
22	chr11:10691286..10695244-chr11:10695981..10700197,4	MCF-7	breast:
23	chr11:10692446..10695017-chr11:10698457..10700738,2	K562	blood:
24	chr11:10688135..10690797-chr11:10695097..10696777,2	K562	blood:
25	chr11:10689241..10690956-chr11:10698574..10700529,2	K562	blood:
26	chr11:10681198..10682057-chr11:10690650..10691471,2	HCT-116	colon:
27	chr11:10688135..10690797-chr11:10695097..10696777,2	K562	blood:
28	chr11:10693377..10695565-chr11:10697509..10699957,3	K562	blood:
29	chr11:10690159..10692528-chr11:10735582..10739094,3	MCF-7	breast:
30	chr11:10690799..10691419-chr2:26784793..26785530,2	HCT-116	colon:

No data

Variant related genes	Relation type
ENSG00000173557	chromatin interactions
ENSG00000133800	chromatin interactions
ENSG00000198730	chromatin interactions

Extended variants
information (count: 510 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:510 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1425151	chr11:10688217-10688218	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375895538	chr11:10688244-10688245	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138262159	chr11:10688264-10688265	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576534603	chr11:10688267-10688268	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545353421	chr11:10688293-10688294	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143858615	chr11:10688363-10688364	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572800040	chr11:10688393-10688394	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541753053	chr11:10688469-10688470	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10840463	chr11:10688494-10688495	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs10840464	chr11:10688514-10688515	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10840465	chr11:10688520-10688521	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562068106	chr11:10688529-10688530	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182518242	chr11:10688537-10688538	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368429390	chr11:10688540-10688541	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532659642	chr11:10688550-10688551	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11042915	chr11:10688562-10688563	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375054357	chr11:10688568-10688569	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552593724	chr11:10688576-10688577	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566125988	chr11:10688625-10688626	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528773529	chr11:10688627-10688628	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187798604	chr11:10688653-10688654	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568674452	chr11:10688659-10688660	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113491871	chr11:10688677-10688678	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201156745	chr11:10688686-10688687	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199757960	chr11:10688687-10688688	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192934499	chr11:10688688-10688689	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200901762	chr11:10688689-10688690	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370766321	chr11:10688693-10688694	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199819751	chr11:10688695-10688696	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs150249172	chr11:10688696-10688697	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs28399828	chr11:10688711-10688712	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552532064	chr11:10688771-10688772	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185040584	chr11:10688862-10688863	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541478889	chr11:10688911-10688912	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555609840	chr11:10688925-10688926	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs575450391	chr11:10688939-10688940	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs535573146	chr11:10688951-10688952	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555870253	chr11:10689003-10689004	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544352110	chr11:10689010-10689011	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564311009	chr11:10689047-10689048	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532646785	chr11:10689118-10689119	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115018783	chr11:10689164-10689165	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559768535	chr11:10689223-10689224	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs903822	chr11:10689226-10689227	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs548296742	chr11:10689229-10689230	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537990316	chr11:10689233-10689234	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs881870	chr11:10689262-10689263	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs117031137	chr11:10689277-10689278	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376857671	chr11:10689322-10689323	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372057209	chr11:10689343-10689344	Enhancers Weak transcription	Chromatin interactive region	1 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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Neuroblastoma	18923524	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:512 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10674600-10689600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:10680600-10696200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:10681000-10688800	Weak transcription	Colonic Mucosa	Colon
4	chr11:10681600-10689000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:10682200-10690400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:10682600-10688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:10683800-10692400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:10684400-10692000	Enhancers	Ovary	ovary
9	chr11:10684800-10689200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr11:10685000-10688400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:10685000-10689200	Enhancers	Brain Anterior Caudate	brain
12	chr11:10685000-10690800	Enhancers	NHDF-Ad	bronchial
13	chr11:10686000-10688800	Weak transcription	Esophagus	oesophagus
14	chr11:10686000-10690400	Weak transcription	Spleen	Spleen
15	chr11:10686000-10692200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:10686200-10688800	Weak transcription	Psoas Muscle	Psoas
17	chr11:10686200-10690400	Weak transcription	Fetal Intestine Small	intestine
18	chr11:10686200-10690400	Weak transcription	Placenta	Placenta
19	chr11:10686400-10688400	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:10686400-10690400	Enhancers	Colon Smooth Muscle	Colon
21	chr11:10686400-10690400	Weak transcription	Right Ventricle	heart
22	chr11:10686600-10688400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:10686800-10689000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr11:10686800-10689800	Enhancers	K562	blood
25	chr11:10686800-10691400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:10687200-10689600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:10687200-10692000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:10687400-10688800	Weak transcription	Left Ventricle	heart
29	chr11:10687400-10689800	Enhancers	Aorta	Aorta
30	chr11:10687400-10690400	Enhancers	Rectal Smooth Muscle	rectum
31	chr11:10687400-10691000	Enhancers	NHLF	lung
32	chr11:10687400-10691400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr11:10687600-10689000	Genic enhancers	Fetal Stomach	stomach
34	chr11:10687600-10689400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:10687600-10690400	Weak transcription	Lung	lung
36	chr11:10687600-10690400	Weak transcription	Small Intestine	intestine
37	chr11:10687600-10690800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:10687600-10691800	Enhancers	Osteobl	bone
39	chr11:10687800-10688400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr11:10687800-10688400	Enhancers	Brain Angular Gyrus	brain
41	chr11:10687800-10688600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr11:10687800-10688600	Enhancers	HepG2	liver
43	chr11:10687800-10689400	Enhancers	NH-A	brain
44	chr11:10687800-10689800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:10687800-10689800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:10687800-10690400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:10687800-10690800	Enhancers	Hela-S3	cervix
48	chr11:10688000-10688400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:10688000-10688400	Flanking Active TSS	A549	lung
50	chr11:10688000-10688600	Enhancers	Rectal Mucosa Donor 29	rectum

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