Variant report

Variant	esv10363
Chromosome Location	chr11:34015216-34018311
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34012814..34016212-chr11:34072473..34075239,3	MCF-7	breast:
2	chr11:34017302..34020894-chr11:34072155..34075321,5	MCF-7	breast:
3	chr11:34018304..34019124-chr11:34380429..34381489,5	MCF-7	breast:
4	chr11:34017787..34020470-chr11:34083587..34085765,2	K562	blood:
5	chr11:34017694..34021670-chr11:34071468..34075941,12	MCF-7	breast:
6	chr11:34018236..34019254-chr11:34072775..34073515,3	MCF-7	breast:
7	chr11:34017030..34019308-chr11:34075054..34077905,2	K562	blood:
8	chr11:34018287..34020760-chr11:34051667..34053419,2	K562	blood:
9	chr11:34016768..34019238-chr11:34070653..34073628,2	K562	blood:
10	chr11:33998966..34000482-chr11:34017921..34020175,2	MCF-7	breast:
11	chr11:34013418..34015422-chr11:34129714..34132635,2	K562	blood:
12	chr11:34017295..34020752-chr11:34087860..34091315,4	K562	blood:
13	chr11:34016657..34020888-chr11:34127780..34130463,3	K562	blood:
14	chr11:34018085..34021579-chr11:34051099..34053696,3	K562	blood:
15	chr11:34017204..34020055-chr11:34021200..34023906,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135372	chromatin interactions
ENSG00000135387	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142827830	chr11:34015233-34015234	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181159589	chr11:34015237-34015238	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs34654540	chr11:34015243-34015244	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs117276472	chr11:34015254-34015255	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373857871	chr11:34015331-34015332	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs61880555	chr11:34015362-34015363	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs184956196	chr11:34015381-34015382	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544652269	chr11:34015397-34015398	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546369193	chr11:34015403-34015404	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564486840	chr11:34015420-34015421	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375462034	chr11:34015427-34015428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564571209	chr11:34015479-34015480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576631058	chr11:34015490-34015491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533335873	chr11:34015493-34015494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547345710	chr11:34015536-34015537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs369468523	chr11:34015556-34015557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529538610	chr11:34015576-34015577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544139093	chr11:34015577-34015578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549314983	chr11:34015580-34015581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61880556	chr11:34015581-34015582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569394526	chr11:34015626-34015627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536764531	chr11:34015665-34015666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150214305	chr11:34015757-34015758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs138843138	chr11:34015782-34015783	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539034011	chr11:34015838-34015839	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529329386	chr11:34015871-34015872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566010283	chr11:34015888-34015889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552886324	chr11:34015889-34015890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35363861	chr11:34015910-34015911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573049045	chr11:34015911-34015912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542058203	chr11:34016003-34016004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555280498	chr11:34016005-34016006	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs7112270	chr11:34016016-34016017	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544738777	chr11:34016060-34016061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs564549704	chr11:34016088-34016089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs578095563	chr11:34016149-34016150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs540629086	chr11:34016164-34016165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528158745	chr11:34016166-34016167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560478897	chr11:34016205-34016206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529570373	chr11:34016237-34016238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73500839	chr11:34016261-34016262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562964530	chr11:34016264-34016265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559784979	chr11:34016328-34016329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533308203	chr11:34016329-34016330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189262750	chr11:34016338-34016339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146353786	chr11:34016378-34016379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546189112	chr11:34016392-34016393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7112880	chr11:34016393-34016394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535400467	chr11:34016424-34016425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551503546	chr11:34016481-34016482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34006400-34018200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:34013400-34018400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:34013400-34018800	Weak transcription	Dnd41	blood
4	chr11:34013600-34018400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:34016400-34018800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:34016400-34020400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:34016600-34016800	Enhancers	K562	blood
8	chr11:34016800-34018400	Weak transcription	K562	blood
9	chr11:34017800-34018400	Enhancers	Fetal Intestine Small	intestine
10	chr11:34017800-34019600	Enhancers	Fetal Intestine Large	intestine
11	chr11:34018000-34018200	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:34018200-34018400	Enhancers	Brain Angular Gyrus	brain
13	chr11:34018200-34018400	Enhancers	Brain Substantia Nigra	brain
14	chr11:34018200-34018400	Enhancers	Colonic Mucosa	Colon
15	chr11:34018200-34018400	Active TSS	Hela-S3	cervix
16	chr11:34018200-34018600	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr11:34018200-34018600	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr11:34018200-34019200	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:34018200-34019400	Bivalent Enhancer	Fetal Stomach	stomach
20	chr11:34018200-34019600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:34018200-34019600	Enhancers	Brain Germinal Matrix	brain

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