Variant report

Variant	nsv825826
Chromosome Location	chr11:34172028-34174021
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34173802..34178236-chr11:34378169..34382437,4	MCF-7	breast:
2	chr11:34171535..34173336-chr11:34174540..34176661,2	K562	blood:
3	chr11:34164734..34166251-chr11:34171246..34172937,2	K562	blood:
4	chr11:34157193..34160201-chr11:34169377..34172451,3	K562	blood:
5	chr11:34172563..34174315-chr11:34176884..34178666,2	MCF-7	breast:
6	chr11:34173254..34175718-chr11:34185959..34188757,2	K562	blood:
7	chr11:34159433..34161225-chr11:34173163..34174695,2	K562	blood:
8	chr11:34098869..34100659-chr11:34172311..34174977,2	K562	blood:
9	chr11:34157193..34160201-chr11:34169377..34173390,4	K562	blood:

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: 88 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	rs372742480	chr11:34172423-34172424	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148066538	chr11:34172427-34172428	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377149601	chr11:34172431-34172432	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73500485	chr11:34172443-34172444	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs553241924	chr11:34172515-34172516	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144358600	chr11:34172536-34172537	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59577652	chr11:34172541-34172542	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143534145	chr11:34172610-34172611	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150560204	chr11:34172646-34172647	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74580222	chr11:34172657-34172658	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190319932	chr11:34172668-34172669	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370034167	chr11:34172725-34172726	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115924384	chr11:34172746-34172747	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77999742	chr11:34172784-34172785	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554691905	chr11:34172832-34172833	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186812996	chr11:34172835-34172836	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191031036	chr11:34172902-34172903	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544312532	chr11:34173001-34173002	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184071947	chr11:34173055-34173056	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533345500	chr11:34173065-34173066	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546829383	chr11:34173067-34173068	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566782838	chr11:34173069-34173070	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529544880	chr11:34173075-34173076	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372288743	chr11:34173104-34173105	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569247275	chr11:34173138-34173139	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557297236	chr11:34173151-34173152	Weak transcription Strong transcription Genic enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
40	rs138617010	chr11:34173240-34173241	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376174191	chr11:34173249-34173250	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558208574	chr11:34173297-34173298	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571699094	chr11:34173298-34173299	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs76589300	chr11:34173327-34173328	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553216306	chr11:34173329-34173330	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552901698	chr11:34173350-34173351	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369565415	chr11:34173351-34173352	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575567649	chr11:34173353-34173354	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573130517	chr11:34173357-34173358	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115768730	chr11:34173388-34173389	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	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:183 , 50 per page) page: 1 2 3 4

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	chr11:34129600-34172800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:34129600-34175000	Strong transcription	Brain Anterior Caudate	brain
13	chr11:34129600-34177200	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:34129600-34178200	Strong transcription	Liver	Liver
15	chr11:34129800-34172800	Strong transcription	Ovary	ovary
16	chr11:34129800-34173200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:34129800-34173200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr11:34129800-34175000	Strong transcription	Primary T cells from cord blood	blood
19	chr11:34129800-34175000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:34129800-34175600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:34130000-34172400	Strong transcription	HepG2	liver
22	chr11:34130000-34173600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:34130000-34174600	Strong transcription	Dnd41	blood
24	chr11:34130000-34177000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:34130000-34181800	Strong transcription	A549	lung
26	chr11:34130200-34172800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:34130200-34173200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:34130200-34177600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:34136200-34177200	Strong transcription	Adipose Nuclei	Adipose
30	chr11:34136200-34177200	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:34138800-34185600	Strong transcription	Fetal Brain Female	brain
32	chr11:34143800-34173000	Strong transcription	Hela-S3	cervix
33	chr11:34146200-34187600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:34148000-34176200	Strong transcription	Brain Hippocampus Middle	brain
35	chr11:34149000-34172200	Strong transcription	HMEC	breast
36	chr11:34150400-34173800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:34150600-34175200	Strong transcription	Gastric	stomach
38	chr11:34150600-34178000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:34150800-34174200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:34150800-34177200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:34151800-34175400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:34152000-34172200	Strong transcription	Aorta	Aorta
43	chr11:34152000-34173000	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr11:34152000-34173200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr11:34152000-34174000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:34152000-34174200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:34152000-34175000	Strong transcription	Esophagus	oesophagus
48	chr11:34152000-34175000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr11:34152200-34177600	Strong transcription	NHEK	skin
50	chr11:34152200-34184800	Strong transcription	Brain Germinal Matrix	brain

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