Variant report

Variant	esv2762905
Chromosome Location	chr11:34238653-34256130
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	chr11:34242165..34244908-chr11:34379144..34380922,2	MCF-7	breast:
2	chr11:34244635..34246968-chr11:34254314..34256180,3	K562	blood:
3	chr11:34239663..34242174-chr11:34378440..34380347,2	MCF-7	breast:
4	chr11:34231932..34233684-chr11:34247435..34249545,2	K562	blood:
5	chr11:34243758..34246398-chr11:34366962..34369270,2	MCF-7	breast:
6	chr11:34244635..34246968-chr11:34254432..34256180,2	K562	blood:
7	chr11:34229441..34231710-chr11:34255472..34258756,3	MCF-7	breast:
8	chr11:34256033..34257760-chr11:34260641..34262431,2	K562	blood:
9	chr11:34244635..34246968-chr11:34254314..34256180,3	K562	blood:
10	chr11:34254769..34257518-chr11:34263900..34266853,2	K562	blood:
11	chr11:34244635..34246968-chr11:34254432..34256180,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166016	chromatin interactions

Extended variants
information (count: 792 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7114749	chr11:34238653-34238654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570279697	chr11:34238674-34238675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539007748	chr11:34238703-34238704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552330411	chr11:34238727-34238728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7114888	chr11:34238774-34238775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7129088	chr11:34238782-34238783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188563551	chr11:34238800-34238801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191630336	chr11:34238808-34238809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146182445	chr11:34238810-34238811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74656389	chr11:34238839-34238840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7129404	chr11:34238864-34238865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs139136832	chr11:34238901-34238902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564726611	chr11:34238961-34238962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182642818	chr11:34238977-34238978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540740309	chr11:34238984-34238985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561116765	chr11:34238999-34239000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548005835	chr11:34239000-34239001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371755671	chr11:34239001-34239002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111430897	chr11:34239018-34239019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543625600	chr11:34239080-34239081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7109677	chr11:34239086-34239087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs532697570	chr11:34239087-34239088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375533362	chr11:34239144-34239145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533216626	chr11:34239157-34239158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565980765	chr11:34239180-34239181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551708976	chr11:34239183-34239184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528579851	chr11:34239197-34239198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562546465	chr11:34239231-34239232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369818324	chr11:34239235-34239236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112209245	chr11:34239252-34239253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568588219	chr11:34239260-34239261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs71457325	chr11:34239265-34239266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186573564	chr11:34239298-34239299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563264381	chr11:34239324-34239325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191160818	chr11:34239329-34239330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78452722	chr11:34239361-34239362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183655623	chr11:34239363-34239364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2746626	chr11:34239390-34239391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571739245	chr11:34239427-34239428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540649480	chr11:34239494-34239495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11032560	chr11:34239511-34239512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs7932750	chr11:34239518-34239519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs142364048	chr11:34239523-34239524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563776091	chr11:34239538-34239539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532830910	chr11:34239544-34239545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371128077	chr11:34239545-34239546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs60952314	chr11:34239566-34239567	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs190454148	chr11:34239591-34239592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7933069	chr11:34239617-34239618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs193152002	chr11:34239626-34239627	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34219000-34240800	Weak transcription	Left Ventricle	heart
2	chr11:34226600-34244600	Weak transcription	Small Intestine	intestine
3	chr11:34227000-34244400	Weak transcription	Pancreas	Pancrea
4	chr11:34229200-34243000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:34230600-34244400	Weak transcription	Right Ventricle	heart
6	chr11:34230800-34241000	Weak transcription	Placenta	Placenta
7	chr11:34232400-34241800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:34234800-34241600	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:34235600-34245600	Weak transcription	Spleen	Spleen
10	chr11:34236800-34241200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:34236800-34241800	Weak transcription	Lung	lung
12	chr11:34236800-34244200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:34236800-34244400	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:34237000-34239400	Weak transcription	Fetal Lung	lung
15	chr11:34237000-34241200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:34237000-34241200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:34237000-34241200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:34237000-34244200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:34237000-34244200	Weak transcription	Osteobl	bone
20	chr11:34237000-34244400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:34237000-34244400	Weak transcription	Right Atrium	heart
22	chr11:34237000-34244400	Weak transcription	HSMMtube	muscle
23	chr11:34237200-34240000	Weak transcription	HepG2	liver
24	chr11:34237200-34241200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:34237200-34243800	Weak transcription	Liver	Liver
26	chr11:34237200-34255600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:34238600-34238800	Enhancers	A549	lung
28	chr11:34238600-34239200	Enhancers	Psoas Muscle	Psoas
29	chr11:34238800-34239800	Weak transcription	A549	lung
30	chr11:34239200-34240800	Weak transcription	Psoas Muscle	Psoas
31	chr11:34239400-34242000	Enhancers	Fetal Lung	lung
32	chr11:34239800-34242200	Enhancers	A549	lung
33	chr11:34240000-34242000	Enhancers	HepG2	liver
34	chr11:34240800-34241000	Enhancers	Left Ventricle	heart
35	chr11:34240800-34241000	Enhancers	Psoas Muscle	Psoas
36	chr11:34241000-34241200	Enhancers	Placenta	Placenta
37	chr11:34241000-34241400	Weak transcription	Left Ventricle	heart
38	chr11:34241000-34241400	Weak transcription	Psoas Muscle	Psoas
39	chr11:34241000-34242000	Enhancers	Fetal Heart	heart
40	chr11:34241200-34241400	Bivalent Enhancer	Fetal Kidney	kidney
41	chr11:34241200-34241600	Weak transcription	Placenta	Placenta
42	chr11:34241200-34242000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:34241200-34242000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:34241200-34242000	Enhancers	Colon Smooth Muscle	Colon
45	chr11:34241200-34242000	Enhancers	Fetal Stomach	stomach
46	chr11:34241200-34242200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:34241200-34242200	Enhancers	Adipose Nuclei	Adipose
48	chr11:34241200-34242200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:34241200-34243200	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr11:34241400-34242000	Enhancers	Psoas Muscle	Psoas

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