Variant report

Variant	esv3513760
Chromosome Location	chr11:46854766-46855377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46854582..46856841-chr11:46859610..46861252,2	K562	blood:
2	chr11:46847421..46850333-chr11:46853966..46855875,2	MCF-7	breast:
3	chr11:46851845..46855646-chr11:46855990..46859166,4	K562	blood:
4	chr11:46852283..46855775-chr11:46856226..46860913,6	MCF-7	breast:
5	chr11:46852561..46855680-chr11:46857184..46859158,3	MCF-7	breast:
6	chr11:46852263..46856096-chr11:46860529..46864160,4	K562	blood:
7	chr11:46839503..46842068-chr11:46852399..46855233,2	K562	blood:

Variant related genes	Relation type
ENSG00000175216	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191597919	chr11:46854774-46854775	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146945243	chr11:46854874-46854875	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs151312442	chr11:46854880-46854881	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115241677	chr11:46854932-46854933	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2867206	chr11:46854977-46854978	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs376640688	chr11:46854995-46854996	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs117989100	chr11:46855018-46855019	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35861432	chr11:46855021-46855022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372600006	chr11:46855030-46855031	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199529522	chr11:46855033-46855034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570241691	chr11:46855043-46855044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199872278	chr11:46855044-46855045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182360406	chr11:46855099-46855100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4752941	chr11:46855123-46855124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs12294884	chr11:46855130-46855131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113769152	chr11:46855142-46855143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186630391	chr11:46855175-46855176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs202142940	chr11:46855191-46855192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558989189	chr11:46855221-46855222	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145002206	chr11:46855228-46855229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs543569567	chr11:46855233-46855234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563153968	chr11:46855279-46855280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46848400-46856800	Weak transcription	Small Intestine	intestine
2	chr11:46848400-46863800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:46848400-46866200	Weak transcription	Placenta	Placenta
4	chr11:46848800-46857600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:46848800-46862200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:46848800-46865800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:46849000-46856400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:46849000-46856400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:46849000-46857000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:46849000-46857200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:46849000-46858400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:46849000-46865200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:46849000-46865200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:46849000-46865800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:46849000-46865800	Weak transcription	Thymus	Thymus
16	chr11:46849000-46866200	Weak transcription	Primary B cells from cord blood	blood
17	chr11:46849000-46866200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:46849000-46867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:46849200-46859200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:46849200-46859800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:46849200-46860000	Weak transcription	Ovary	ovary
22	chr11:46849200-46860800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:46849200-46861000	Weak transcription	Fetal Thymus	thymus
24	chr11:46849200-46863600	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:46849200-46864400	Weak transcription	Fetal Stomach	stomach
26	chr11:46849200-46866000	Weak transcription	NH-A	brain
27	chr11:46849200-46866200	Weak transcription	Brain Germinal Matrix	brain
28	chr11:46849200-46866600	Weak transcription	Psoas Muscle	Psoas
29	chr11:46849600-46860800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:46849600-46866000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:46849600-46866200	Weak transcription	HSMM	muscle
32	chr11:46849600-46866600	Weak transcription	Brain Angular Gyrus	brain
33	chr11:46849800-46857200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:46849800-46863000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:46850000-46859400	Weak transcription	GM12878-XiMat	blood
36	chr11:46850000-46863600	Weak transcription	HUVEC	blood vessel
37	chr11:46850000-46866000	Weak transcription	NHLF	lung
38	chr11:46850000-46866600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:46850200-46857000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:46850200-46857400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:46850200-46859200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:46850200-46862600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:46850200-46864000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:46850200-46864800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:46850200-46865800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:46850400-46857400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:46850400-46861000	Weak transcription	NHDF-Ad	bronchial
48	chr11:46850400-46866000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:46850400-46866400	Weak transcription	Osteobl	bone
50	chr11:46851200-46854800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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