Variant report

Variant	esv3351837
Chromosome Location	chr11:48073826-48076224
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:48073485..48075927-chr11:48082055..48084574,2	MCF-7	breast:
2	chr11:48072169..48075662-chr11:48075736..48079290,4	MCF-7	breast:
3	chr11:48072741..48074310-chr11:48080242..48082997,2	K562	blood:
4	chr11:48072169..48075662-chr11:48075736..48079290,4	MCF-7	breast:
5	chr11:48001588..48003458-chr11:48072327..48074096,3	MCF-7	breast:
6	chr11:48071848..48074782-chr11:48077801..48079441,2	MCF-7	breast:
7	chr11:48063050..48065981-chr11:48070901..48073953,3	MCF-7	breast:
8	chr11:48072810..48075370-chr11:48080373..48082997,2	K562	blood:
9	chr11:47967015..47968589-chr11:48075080..48077424,2	MCF-7	breast:
10	chr11:48075993..48078690-chr11:48080770..48083090,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000149177	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145756555	chr11:48073841-48073842	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs376609382	chr11:48073938-48073939	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557267402	chr11:48073958-48073959	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542768606	chr11:48074014-48074015	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141380926	chr11:48074048-48074049	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537372697	chr11:48074079-48074080	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557209941	chr11:48074085-48074086	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146983751	chr11:48074096-48074097	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544737332	chr11:48074191-48074192	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564516599	chr11:48074228-48074229	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6485803	chr11:48074229-48074230	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532571542	chr11:48074262-48074263	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190190536	chr11:48074287-48074288	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75545106	chr11:48074295-48074296	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376902836	chr11:48074298-48074299	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182734307	chr11:48074307-48074308	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539110097	chr11:48074311-48074312	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75065324	chr11:48074401-48074402	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187355101	chr11:48074442-48074443	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538209524	chr11:48074456-48074457	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138070886	chr11:48074457-48074458	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142298817	chr11:48074465-48074466	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536200981	chr11:48074530-48074531	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553116462	chr11:48074569-48074570	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140889085	chr11:48074616-48074617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191908307	chr11:48074674-48074675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7113246	chr11:48074734-48074735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34549630	chr11:48074810-48074811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189041110	chr11:48074840-48074841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7113511	chr11:48074933-48074934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572712227	chr11:48074972-48074973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530658915	chr11:48075026-48075027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543755259	chr11:48075106-48075107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553237975	chr11:48075152-48075153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61470520	chr11:48075154-48075155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs530408826	chr11:48075174-48075175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547014737	chr11:48075220-48075221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560716713	chr11:48075231-48075232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182139931	chr11:48075232-48075233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374608879	chr11:48075305-48075306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569333618	chr11:48075349-48075350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186698808	chr11:48075363-48075364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148203609	chr11:48075369-48075370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11290681	chr11:48075483-48075484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35795755	chr11:48075501-48075502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191571681	chr11:48075506-48075507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148569728	chr11:48075524-48075525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189839248	chr11:48075609-48075610	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs552962379	chr11:48075612-48075613	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12272622	chr11:48075728-48075729	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Glioblastoma multiforme	21390271	CNVD
Acute lymphoblastic leukemia	20699438	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48065600-48076000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:48065800-48074200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:48066000-48074000	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:48066000-48075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:48066000-48076800	Weak transcription	Thymus	Thymus
6	chr11:48068800-48074000	Weak transcription	Right Ventricle	heart
7	chr11:48068800-48074600	Enhancers	Placenta	Placenta
8	chr11:48069000-48074600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:48069200-48074000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr11:48070800-48074600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr11:48070800-48074800	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:48070800-48083400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:48071000-48076000	Weak transcription	Adipose Nuclei	Adipose
14	chr11:48071200-48074600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr11:48071200-48074600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:48071200-48074600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr11:48071200-48074600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr11:48071400-48074400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:48071400-48074400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:48071400-48074600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr11:48071400-48074600	Enhancers	GM12878-XiMat	blood
22	chr11:48071600-48074600	Enhancers	Primary T cells from cord blood	blood
23	chr11:48071600-48074600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:48071600-48074600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:48071600-48074600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr11:48071600-48074600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr11:48071800-48074400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:48072000-48074000	Enhancers	Liver	Liver
29	chr11:48072000-48074600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:48072200-48074000	Weak transcription	Fetal Intestine Large	intestine
31	chr11:48072200-48075600	Weak transcription	Fetal Intestine Small	intestine
32	chr11:48072200-48075800	Enhancers	Primary B cells from cord blood	blood
33	chr11:48072400-48074000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr11:48072400-48074000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:48072400-48074600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:48072400-48074600	Enhancers	Brain Hippocampus Middle	brain
37	chr11:48072400-48076000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr11:48072400-48080600	Enhancers	Spleen	Spleen
39	chr11:48072600-48074000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:48072600-48077000	Weak transcription	Brain Substantia Nigra	brain
41	chr11:48072800-48074600	Enhancers	Brain Angular Gyrus	brain
42	chr11:48073000-48074400	Enhancers	Stomach Smooth Muscle	stomach
43	chr11:48073000-48074400	Enhancers	Osteobl	bone
44	chr11:48073000-48074600	Enhancers	Esophagus	oesophagus
45	chr11:48073000-48074600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr11:48073000-48074600	Enhancers	NHDF-Ad	bronchial
47	chr11:48073000-48076800	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:48073200-48074000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:48073200-48074400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:48073200-48074400	Enhancers	HUES48 Cell Line	embryonic stem cell

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