Variant report

Variant	esv2753225
Chromosome Location	chr11:34338342-34354865
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34348938..34354072-chr11:34377839..34381430,6	MCF-7	breast:
2	chr11:34351980..34355833-chr11:34364485..34369065,5	MCF-7	breast:
3	chr11:34330140..34331933-chr11:34345300..34347720,2	K562	blood:
4	chr11:34340373..34342036-chr11:34343616..34346378,2	MCF-7	breast:
5	chr11:34351992..34353875-chr11:34377639..34379181,2	K562	blood:
6	chr11:34340006..34344767-chr11:34350658..34354959,5	MCF-7	breast:
7	chr11:34346331..34348538-chr11:34354788..34356481,2	MCF-7	breast:
8	chr11:34336235..34339899-chr11:34377222..34380179,3	MCF-7	breast:
9	chr11:34340006..34344767-chr11:34350658..34354959,5	MCF-7	breast:
10	chr11:34346331..34348538-chr11:34354788..34356481,2	MCF-7	breast:
11	chr11:34278605..34281312-chr11:34339472..34341100,2	K562	blood:
12	chr11:34328956..34331154-chr11:34336268..34338352,2	K562	blood:
13	chr11:34353541..34355614-chr11:34357152..34360138,2	MCF-7	breast:
14	chr11:34342106..34344369-chr11:34352747..34354682,2	MCF-7	breast:
15	chr11:34295678..34297424-chr11:34350802..34352838,2	MCF-7	breast:
16	chr11:34345030..34348316-chr11:34348388..34351447,3	K562	blood:
17	chr11:34295466..34297998-chr11:34348756..34350438,2	MCF-7	breast:
18	chr11:34295048..34297358-chr11:34352691..34354542,2	MCF-7	breast:
19	chr11:34340373..34342036-chr11:34343616..34346378,2	MCF-7	breast:
20	chr11:34336823..34338638-chr11:34378142..34379792,2	MCF-7	breast:
21	chr11:34345030..34348316-chr11:34348388..34351447,3	K562	blood:
22	chr11:34345532..34347558-chr11:34378083..34380807,2	MCF-7	breast:
23	chr11:34342106..34344369-chr11:34352747..34354682,2	MCF-7	breast:
24	chr11:34352862..34355628-chr11:34375081..34377214,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166016	chromatin interactions
ENSG00000254708	chromatin interactions

Extended variants
information (count: 605 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4755368	chr11:34338342-34338343	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs143213734	chr11:34338360-34338361	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575721791	chr11:34338362-34338363	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186081698	chr11:34338410-34338411	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs377018223	chr11:34338419-34338420	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192187336	chr11:34338434-34338435	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529340248	chr11:34338441-34338442	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147527633	chr11:34338467-34338468	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559244806	chr11:34338476-34338477	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs138579897	chr11:34338480-34338481	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs547563047	chr11:34338518-34338519	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369032455	chr11:34338562-34338563	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149452272	chr11:34338574-34338575	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566211266	chr11:34338587-34338588	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552163378	chr11:34338621-34338622	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143907629	chr11:34338623-34338624	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564626570	chr11:34338690-34338691	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs76219478	chr11:34338708-34338709	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs386752333	chr11:34338766-34338767	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148636089	chr11:34338768-34338769	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77809938	chr11:34338777-34338778	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs183718266	chr11:34338814-34338815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539230061	chr11:34338844-34338845	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187966491	chr11:34338947-34338948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537999559	chr11:34338951-34338952	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371107885	chr11:34338974-34338975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192002460	chr11:34338976-34338977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569244702	chr11:34338986-34338987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537907930	chr11:34338987-34338988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557833327	chr11:34338991-34338992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570283527	chr11:34338993-34338994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142093890	chr11:34338995-34338996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs73497391	chr11:34339024-34339025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183055110	chr11:34339025-34339026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541454789	chr11:34339039-34339040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73497392	chr11:34339052-34339053	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146215143	chr11:34339062-34339063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200564871	chr11:34339156-34339157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569986842	chr11:34339214-34339215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376656170	chr11:34339225-34339226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117588271	chr11:34339240-34339241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533554337	chr11:34339242-34339243	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540859220	chr11:34339263-34339264	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187172220	chr11:34339284-34339285	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529634925	chr11:34339296-34339297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs374151970	chr11:34339309-34339310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549421109	chr11:34339330-34339331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192788165	chr11:34339343-34339344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs77682086	chr11:34339391-34339392	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571440372	chr11:34339397-34339398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34327200-34340400	Weak transcription	Gastric	stomach
2	chr11:34330600-34340000	Weak transcription	Aorta	Aorta
3	chr11:34330600-34340200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:34330800-34339000	Enhancers	Fetal Heart	heart
5	chr11:34330800-34339600	Weak transcription	Fetal Intestine Small	intestine
6	chr11:34331800-34338600	Enhancers	Right Ventricle	heart
7	chr11:34331800-34340000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:34332800-34346200	Weak transcription	Lung	lung
9	chr11:34333200-34338400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:34333800-34339800	Weak transcription	Small Intestine	intestine
11	chr11:34334000-34339000	Enhancers	Fetal Thymus	thymus
12	chr11:34334800-34339800	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:34335200-34339800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:34335400-34340000	Weak transcription	Placenta	Placenta
15	chr11:34335800-34339000	Enhancers	Brain Substantia Nigra	brain
16	chr11:34335800-34341200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:34335800-34342200	Enhancers	Liver	Liver
18	chr11:34336000-34338600	Enhancers	Fetal Stomach	stomach
19	chr11:34336200-34341000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:34336200-34358200	Weak transcription	Thymus	Thymus
21	chr11:34336600-34339000	Enhancers	Brain Germinal Matrix	brain
22	chr11:34336800-34338600	Enhancers	Psoas Muscle	Psoas
23	chr11:34336800-34338800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:34336800-34338800	Enhancers	HSMMtube	muscle
25	chr11:34336800-34341200	Enhancers	Left Ventricle	heart
26	chr11:34337000-34338600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:34337000-34338600	Enhancers	Right Atrium	heart
28	chr11:34337000-34338800	Enhancers	Fetal Lung	lung
29	chr11:34337000-34339000	Enhancers	Brain Anterior Caudate	brain
30	chr11:34337000-34339200	Enhancers	Brain Hippocampus Middle	brain
31	chr11:34337000-34341000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr11:34337200-34339000	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:34337200-34339000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr11:34337200-34339000	Enhancers	Fetal Brain Female	brain
35	chr11:34337200-34341200	Enhancers	HSMM	muscle
36	chr11:34337400-34338600	Bivalent Enhancer	Osteobl	bone
37	chr11:34337400-34339600	Weak transcription	NHDF-Ad	bronchial
38	chr11:34337400-34339800	Enhancers	A549	lung
39	chr11:34337600-34338800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:34337600-34338800	Enhancers	Brain Angular Gyrus	brain
41	chr11:34337600-34339000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:34337600-34339200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:34337600-34339200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr11:34337600-34342400	Enhancers	HepG2	liver
45	chr11:34337800-34338400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr11:34337800-34338400	Enhancers	Adipose Nuclei	Adipose
47	chr11:34337800-34338600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:34337800-34338600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:34337800-34338600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr11:34337800-34338600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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