Variant report

Variant	esv1849370
Chromosome Location	chr11:34218849-34225647
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34194574..34196740-chr11:34221651..34224384,2	K562	blood:
2	chr11:34211397..34213472-chr11:34217305..34219861,2	K562	blood:
3	chr11:34213006..34215990-chr11:34223234..34225246,2	K562	blood:
4	chr11:34224648..34227495-chr11:34231430..34234571,3	K562	blood:
5	chr11:34217700..34219996-chr11:34226707..34229701,2	K562	blood:
6	chr11:34218731..34220408-chr11:34222134..34224402,2	K562	blood:
7	chr11:34224045..34226285-chr11:34321256..34323357,2	MCF-7	breast:
8	chr11:34225108..34229701-chr11:34377567..34379685,4	MCF-7	breast:
9	chr11:34218731..34220408-chr11:34222134..34224402,2	K562	blood:
10	chr11:34224684..34227193-chr11:34228730..34230616,2	K562	blood:
11	chr11:34215895..34218222-chr11:34219026..34221739,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166016	chromatin interactions

Extended variants
information (count: 240 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370285454	chr11:34218873-34218874	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35688695	chr11:34218894-34218895	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373418174	chr11:34218895-34218896	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576159394	chr11:34218901-34218902	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35063197	chr11:34218909-34218910	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140497119	chr11:34218959-34218960	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150416485	chr11:34218972-34218973	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs202174579	chr11:34218973-34218974	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200205369	chr11:34218975-34218976	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374255572	chr11:34218997-34218998	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573688054	chr11:34219004-34219005	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560825781	chr11:34219013-34219014	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138327386	chr11:34219045-34219046	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs140971908	chr11:34219046-34219047	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569626069	chr11:34219060-34219061	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377271900	chr11:34219091-34219092	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368804664	chr11:34219094-34219095	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544015301	chr11:34219095-34219096	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2467373	chr11:34219097-34219098	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371513542	chr11:34219098-34219099	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541915663	chr11:34219118-34219119	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146053104	chr11:34219202-34219203	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372772280	chr11:34219250-34219251	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554852689	chr11:34219260-34219261	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574743151	chr11:34219263-34219264	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562588317	chr11:34219272-34219273	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185267835	chr11:34219329-34219330	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577255815	chr11:34219353-34219354	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546364385	chr11:34219365-34219366	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201098757	chr11:34219382-34219383	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189968370	chr11:34219391-34219392	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578014315	chr11:34219394-34219395	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545501544	chr11:34219477-34219478	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182376509	chr11:34219516-34219517	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574373825	chr11:34219619-34219620	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117926971	chr11:34219620-34219621	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566238787	chr11:34219649-34219650	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561046764	chr11:34219703-34219704	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72910890	chr11:34219709-34219710	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76922123	chr11:34219710-34219711	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192345000	chr11:34219717-34219718	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140047117	chr11:34219786-34219787	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183241718	chr11:34219799-34219800	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142028824	chr11:34219836-34219837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528065145	chr11:34219865-34219866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546248278	chr11:34219869-34219870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569637143	chr11:34219904-34219905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548447337	chr11:34219963-34219964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564909615	chr11:34219970-34219971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs56842608	chr11:34219971-34219972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:248 , 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	chr11:34215000-34219400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:34215000-34223200	Weak transcription	Fetal Lung	lung
12	chr11:34215000-34228200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:34215000-34228400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:34215000-34235800	Weak transcription	Brain Anterior Caudate	brain
15	chr11:34215200-34220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:34215200-34226400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:34215200-34226400	Weak transcription	Osteobl	bone
18	chr11:34215200-34227400	Weak transcription	Brain Substantia Nigra	brain
19	chr11:34215200-34228200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:34215600-34224400	Weak transcription	NHEK	skin
21	chr11:34215600-34225400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:34215600-34228200	Weak transcription	Right Atrium	heart
23	chr11:34215600-34232600	Weak transcription	Fetal Brain Female	brain
24	chr11:34215800-34219000	Weak transcription	NHDF-Ad	bronchial
25	chr11:34215800-34224800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:34215800-34225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:34216000-34224600	Weak transcription	Hela-S3	cervix
28	chr11:34216000-34225600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:34216000-34228200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:34216200-34219200	Weak transcription	Brain Germinal Matrix	brain
31	chr11:34216200-34223600	Weak transcription	Right Ventricle	heart
32	chr11:34216200-34225400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:34216200-34226600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:34216400-34219000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:34216600-34228400	Weak transcription	Lung	lung
36	chr11:34216800-34219000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:34217000-34219000	Strong transcription	HSMMtube	muscle
38	chr11:34217000-34219600	Strong transcription	Liver	Liver
39	chr11:34217000-34219800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:34217000-34220000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:34217000-34223200	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:34217000-34225000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:34217000-34225200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:34217200-34219000	Strong transcription	Left Ventricle	heart
45	chr11:34217200-34219200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:34217200-34220200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:34217200-34224600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:34217200-34224800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:34217200-34224800	Weak transcription	NH-A	brain
50	chr11:34217200-34225000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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