Variant report

Variant	nsv820233
Chromosome Location	chr11:34171363-34174020
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34157193..34160201-chr11:34169377..34173390,4	K562	blood:
2	chr11:34098869..34100659-chr11:34172311..34174977,2	K562	blood:
3	chr11:34173254..34175718-chr11:34185959..34188757,2	K562	blood:
4	chr11:34157193..34160201-chr11:34169377..34172451,3	K562	blood:
5	chr11:34171535..34173336-chr11:34174540..34176661,2	K562	blood:
6	chr11:34172563..34174315-chr11:34176884..34178666,2	MCF-7	breast:
7	chr11:34169201..34171584-chr11:34378807..34380601,2	MCF-7	breast:
8	chr11:34171073..34172022-chr11:34380697..34381569,3	MCF-7	breast:
9	chr11:34164734..34166251-chr11:34171246..34172937,2	K562	blood:
10	chr11:34159433..34161225-chr11:34173163..34174695,2	K562	blood:
11	chr11:34171215..34172003-chr11:34380711..34381705,3	MCF-7	breast:
12	chr11:34173802..34178236-chr11:34378169..34382437,4	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ABTB2	hsa-miR-335-5p	chr11:34173149-34173171

Variant related genes	Relation type
ENSG00000166016	chromatin interactions
ENSG00000135372	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543648802	chr11:34171365-34171366	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563425394	chr11:34171372-34171373	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115999429	chr11:34171378-34171379	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs80327384	chr11:34171389-34171390	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571608294	chr11:34171390-34171391	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528157356	chr11:34171437-34171438	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548293646	chr11:34171452-34171453	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182132783	chr11:34171467-34171468	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537247968	chr11:34171489-34171490	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538620372	chr11:34171493-34171494	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141088045	chr11:34171499-34171500	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs370454909	chr11:34171505-34171506	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556239702	chr11:34171506-34171507	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs116261910	chr11:34171545-34171546	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574775683	chr11:34171582-34171583	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs146936510	chr11:34171583-34171584	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369210329	chr11:34171631-34171632	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186950282	chr11:34171637-34171638	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191742136	chr11:34171654-34171655	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535484011	chr11:34171684-34171685	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555436152	chr11:34171704-34171705	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550576771	chr11:34171708-34171709	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2473931	chr11:34171766-34171767	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568779807	chr11:34171770-34171771	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557119378	chr11:34171773-34171774	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536308455	chr11:34171881-34171882	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577032056	chr11:34171884-34171885	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545396910	chr11:34171921-34171922	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370904701	chr11:34171948-34171949	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs137963918	chr11:34171989-34171990	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373655788	chr11:34171992-34171993	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78815130	chr11:34172007-34172008	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183195821	chr11:34172023-34172024	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530642612	chr11:34172047-34172048	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111227424	chr11:34172106-34172107	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550848835	chr11:34172115-34172116	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571046614	chr11:34172127-34172128	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577048511	chr11:34172182-34172183	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533426157	chr11:34172203-34172204	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74498953	chr11:34172233-34172234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566869434	chr11:34172247-34172248	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538090335	chr11:34172254-34172255	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555350287	chr11:34172271-34172272	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550070536	chr11:34172331-34172332	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534933798	chr11:34172332-34172333	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3763971	chr11:34172381-34172382	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372742480	chr11:34172423-34172424	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148066538	chr11:34172427-34172428	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377149601	chr11:34172431-34172432	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73500485	chr11:34172443-34172444	Weak transcription Strong transcription Genic enhancers 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:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34128600-34173200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr11:34128600-34176400	Strong transcription	Fetal Stomach	stomach
3	chr11:34128800-34178000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:34129000-34177400	Strong transcription	Osteobl	bone
5	chr11:34129000-34177800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:34129200-34174600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:34129200-34177800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:34129400-34172600	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr11:34129400-34173400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:34129400-34175600	Strong transcription	Fetal Thymus	thymus
11	chr11:34129600-34171400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:34129600-34171800	Strong transcription	Fetal Muscle Leg	muscle
13	chr11:34129600-34172800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:34129600-34175000	Strong transcription	Brain Anterior Caudate	brain
15	chr11:34129600-34177200	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:34129600-34178200	Strong transcription	Liver	Liver
17	chr11:34129800-34171800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr11:34129800-34172000	Strong transcription	Fetal Intestine Large	intestine
19	chr11:34129800-34172800	Strong transcription	Ovary	ovary
20	chr11:34129800-34173200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:34129800-34173200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr11:34129800-34175000	Strong transcription	Primary T cells from cord blood	blood
23	chr11:34129800-34175000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:34129800-34175600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:34130000-34172400	Strong transcription	HepG2	liver
26	chr11:34130000-34173600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:34130000-34174600	Strong transcription	Dnd41	blood
28	chr11:34130000-34177000	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:34130000-34181800	Strong transcription	A549	lung
30	chr11:34130200-34172800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:34130200-34173200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:34130200-34177600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:34132000-34171400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:34136200-34177200	Strong transcription	Adipose Nuclei	Adipose
35	chr11:34136200-34177200	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:34138800-34185600	Strong transcription	Fetal Brain Female	brain
37	chr11:34143800-34173000	Strong transcription	Hela-S3	cervix
38	chr11:34146200-34187600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:34146600-34171400	Strong transcription	Fetal Intestine Small	intestine
40	chr11:34148000-34176200	Strong transcription	Brain Hippocampus Middle	brain
41	chr11:34148600-34172000	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr11:34149000-34172200	Strong transcription	HMEC	breast
43	chr11:34149800-34172000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:34150400-34173800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:34150600-34175200	Strong transcription	Gastric	stomach
46	chr11:34150600-34178000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:34150800-34174200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:34150800-34177200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:34151800-34175400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:34152000-34172000	Strong transcription	Spleen	Spleen

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