Variant report

Variant	esv1848893
Chromosome Location	chr11:34220507-34225647
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34218731..34220408-chr11:34222134..34224402,2	K562	blood:
2	chr11:34224648..34227495-chr11:34231430..34234571,3	K562	blood:
3	chr11:34213006..34215990-chr11:34223234..34225246,2	K562	blood:
4	chr11:34224684..34227193-chr11:34228730..34230616,2	K562	blood:
5	chr11:34215895..34218222-chr11:34219026..34221739,2	MCF-7	breast:
6	chr11:34224045..34226285-chr11:34321256..34323357,2	MCF-7	breast:
7	chr11:34194574..34196740-chr11:34221651..34224384,2	K562	blood:
8	chr11:34225108..34229701-chr11:34377567..34379685,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166016	chromatin interactions

Extended variants
information (count: 155 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551266079	chr11:34220553-34220554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549244514	chr11:34220596-34220597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567899050	chr11:34220633-34220634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539860773	chr11:34220802-34220803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553430227	chr11:34220818-34220819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12272877	chr11:34220894-34220895	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554465773	chr11:34220898-34220899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377446862	chr11:34220900-34220901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182655728	chr11:34221003-34221004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186578524	chr11:34221063-34221064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553062553	chr11:34221084-34221085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369410064	chr11:34221088-34221089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191162910	chr11:34221102-34221103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576402322	chr11:34221118-34221119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141080339	chr11:34221128-34221129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184536725	chr11:34221201-34221202	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs734263	chr11:34221249-34221250	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541910794	chr11:34221260-34221261	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs375846156	chr11:34221332-34221333	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs368859335	chr11:34221384-34221385	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs2982597	chr11:34221388-34221389	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539093089	chr11:34221400-34221401	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs557528513	chr11:34221409-34221410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376364137	chr11:34221425-34221426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531150226	chr11:34221434-34221435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2955943	chr11:34221453-34221454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150297861	chr11:34221467-34221468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533700852	chr11:34221540-34221541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2957498	chr11:34221597-34221598	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2957499	chr11:34221608-34221609	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370704220	chr11:34221678-34221679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535906909	chr11:34221699-34221700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549468644	chr11:34221719-34221720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568130410	chr11:34221748-34221749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575503958	chr11:34221807-34221808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9971554	chr11:34221862-34221863	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556904832	chr11:34221914-34221915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9971555	chr11:34221966-34221967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190222180	chr11:34221992-34221993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373647326	chr11:34222002-34222003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193254266	chr11:34222072-34222073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542880387	chr11:34222121-34222122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372637896	chr11:34222174-34222175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377012229	chr11:34222196-34222197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114026970	chr11:34222205-34222206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561842811	chr11:34222232-34222233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57949468	chr11:34222235-34222236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573028621	chr11:34222240-34222241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540526425	chr11:34222270-34222271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144932496	chr11:34222299-34222300	Weak transcription	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34203000-34224800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:34203400-34228200	Weak transcription	Psoas Muscle	Psoas
3	chr11:34207200-34226000	Weak transcription	Gastric	stomach
4	chr11:34208200-34235200	Weak transcription	Adipose Nuclei	Adipose
5	chr11:34210600-34224800	Weak transcription	Primary T cells from cord blood	blood
6	chr11:34210600-34226600	Weak transcription	Pancreas	Pancrea
7	chr11:34214000-34224400	Weak transcription	GM12878-XiMat	blood
8	chr11:34214600-34228000	Weak transcription	Brain Angular Gyrus	brain
9	chr11:34214800-34225200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:34215000-34223200	Weak transcription	Fetal Lung	lung
11	chr11:34215000-34228200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:34215000-34228400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:34215000-34235800	Weak transcription	Brain Anterior Caudate	brain
14	chr11:34215200-34226400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:34215200-34226400	Weak transcription	Osteobl	bone
16	chr11:34215200-34227400	Weak transcription	Brain Substantia Nigra	brain
17	chr11:34215200-34228200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:34215600-34224400	Weak transcription	NHEK	skin
19	chr11:34215600-34225400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:34215600-34228200	Weak transcription	Right Atrium	heart
21	chr11:34215600-34232600	Weak transcription	Fetal Brain Female	brain
22	chr11:34215800-34224800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:34215800-34225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:34216000-34224600	Weak transcription	Hela-S3	cervix
25	chr11:34216000-34225600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:34216000-34228200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:34216200-34223600	Weak transcription	Right Ventricle	heart
28	chr11:34216200-34225400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:34216200-34226600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:34216600-34228400	Weak transcription	Lung	lung
31	chr11:34217000-34223200	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:34217000-34225000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:34217000-34225200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:34217200-34224600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:34217200-34224800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:34217200-34224800	Weak transcription	NH-A	brain
37	chr11:34217200-34225000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr11:34217400-34223800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:34217400-34224800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:34217600-34225000	Weak transcription	Aorta	Aorta
41	chr11:34218400-34221000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:34218800-34222000	Enhancers	Fetal Thymus	thymus
43	chr11:34218800-34222600	Weak transcription	Fetal Stomach	stomach
44	chr11:34218800-34223200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:34218800-34223400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:34218800-34226600	Weak transcription	HSMM	muscle
47	chr11:34218800-34228200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:34218800-34236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:34219000-34222400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:34219000-34222600	Weak transcription	Brain Hippocampus Middle	brain

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