Variant report

Variant	nsv818810
Chromosome Location	chr11:34337564-34354076
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34295678..34297424-chr11:34350802..34352838,2	MCF-7	breast:
2	chr11:34345030..34348316-chr11:34348388..34351447,3	K562	blood:
3	chr11:34348938..34354072-chr11:34377839..34381430,6	MCF-7	breast:
4	chr11:34340373..34342036-chr11:34343616..34346378,2	MCF-7	breast:
5	chr11:34353541..34355614-chr11:34357152..34360138,2	MCF-7	breast:
6	chr11:34352862..34355628-chr11:34375081..34377214,3	MCF-7	breast:
7	chr11:34346331..34348538-chr11:34354788..34356481,2	MCF-7	breast:
8	chr11:34342106..34344369-chr11:34352747..34354682,2	MCF-7	breast:
9	chr11:34342106..34344369-chr11:34352747..34354682,2	MCF-7	breast:
10	chr11:34351992..34353875-chr11:34377639..34379181,2	K562	blood:
11	chr11:34345532..34347558-chr11:34378083..34380807,2	MCF-7	breast:
12	chr11:34340006..34344767-chr11:34350658..34354959,5	MCF-7	breast:
13	chr11:34336235..34339899-chr11:34377222..34380179,3	MCF-7	breast:
14	chr11:34295466..34297998-chr11:34348756..34350438,2	MCF-7	breast:
15	chr11:34340373..34342036-chr11:34343616..34346378,2	MCF-7	breast:
16	chr11:34330140..34331933-chr11:34345300..34347720,2	K562	blood:
17	chr11:34336823..34338638-chr11:34378142..34379792,2	MCF-7	breast:
18	chr11:34328956..34331154-chr11:34336268..34338352,2	K562	blood:
19	chr11:34278605..34281312-chr11:34339472..34341100,2	K562	blood:
20	chr11:34340006..34344767-chr11:34350658..34354959,5	MCF-7	breast:
21	chr11:34345030..34348316-chr11:34348388..34351447,3	K562	blood:
22	chr11:34351980..34355833-chr11:34364485..34369065,5	MCF-7	breast:
23	chr11:34295048..34297358-chr11:34352691..34354542,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166016	chromatin interactions
ENSG00000254708	chromatin interactions

Extended variants
information (count: 607 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2611140	chr11:34337564-34337565	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571193920	chr11:34337585-34337586	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531319687	chr11:34337701-34337702	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs72914590	chr11:34337707-34337708	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553448502	chr11:34337753-34337754	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573362114	chr11:34337813-34337814	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148107279	chr11:34337814-34337815	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181576098	chr11:34337820-34337821	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574514638	chr11:34337837-34337838	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375531894	chr11:34337932-34337933	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532943452	chr11:34337956-34337957	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563221144	chr11:34337969-34337970	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527558275	chr11:34337976-34337977	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576775730	chr11:34338051-34338052	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185278670	chr11:34338064-34338065	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74898807	chr11:34338093-34338094	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558883199	chr11:34338095-34338096	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146743625	chr11:34338105-34338106	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547948489	chr11:34338114-34338115	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561834954	chr11:34338122-34338123	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375042576	chr11:34338165-34338166	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11032612	chr11:34338180-34338181	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371609342	chr11:34338185-34338186	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190287910	chr11:34338237-34338238	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571156021	chr11:34338262-34338263	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530021796	chr11:34338267-34338268	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs76961895	chr11:34338270-34338271	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547323565	chr11:34338275-34338276	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182787580	chr11:34338282-34338283	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs4755368	chr11:34338342-34338343	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs143213734	chr11:34338360-34338361	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575721791	chr11:34338362-34338363	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186081698	chr11:34338410-34338411	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs377018223	chr11:34338419-34338420	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192187336	chr11:34338434-34338435	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529340248	chr11:34338441-34338442	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147527633	chr11:34338467-34338468	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559244806	chr11:34338476-34338477	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138579897	chr11:34338480-34338481	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547563047	chr11:34338518-34338519	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369032455	chr11:34338562-34338563	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149452272	chr11:34338574-34338575	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566211266	chr11:34338587-34338588	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552163378	chr11:34338621-34338622	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143907629	chr11:34338623-34338624	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564626570	chr11:34338690-34338691	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76219478	chr11:34338708-34338709	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs386752333	chr11:34338766-34338767	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148636089	chr11:34338768-34338769	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77809938	chr11:34338777-34338778	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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

Chromatin state (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34327200-34340400	Weak transcription	Gastric	stomach
2	chr11:34330600-34338200	Enhancers	Fetal Muscle Leg	muscle
3	chr11:34330600-34340000	Weak transcription	Aorta	Aorta
4	chr11:34330600-34340200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:34330800-34339000	Enhancers	Fetal Heart	heart
6	chr11:34330800-34339600	Weak transcription	Fetal Intestine Small	intestine
7	chr11:34331200-34337800	Weak transcription	Adipose Nuclei	Adipose
8	chr11:34331800-34337600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:34331800-34338600	Enhancers	Right Ventricle	heart
10	chr11:34331800-34340000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:34332200-34337600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:34332200-34337600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:34332400-34337800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr11:34332400-34337800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:34332600-34337600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:34332600-34337800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr11:34332800-34337600	Weak transcription	Brain Angular Gyrus	brain
18	chr11:34332800-34346200	Weak transcription	Lung	lung
19	chr11:34333200-34338400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:34333800-34339800	Weak transcription	Small Intestine	intestine
21	chr11:34334000-34339000	Enhancers	Fetal Thymus	thymus
22	chr11:34334800-34339800	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:34335000-34337600	Weak transcription	Pancreas	Pancrea
24	chr11:34335200-34337600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:34335200-34339800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:34335400-34340000	Weak transcription	Placenta	Placenta
27	chr11:34335800-34339000	Enhancers	Brain Substantia Nigra	brain
28	chr11:34335800-34341200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:34335800-34342200	Enhancers	Liver	Liver
30	chr11:34336000-34338600	Enhancers	Fetal Stomach	stomach
31	chr11:34336200-34337800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:34336200-34341000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:34336200-34358200	Weak transcription	Thymus	Thymus
34	chr11:34336600-34337800	Enhancers	Fetal Brain Male	brain
35	chr11:34336600-34338200	Enhancers	Stomach Smooth Muscle	stomach
36	chr11:34336600-34339000	Enhancers	Brain Germinal Matrix	brain
37	chr11:34336800-34337600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:34336800-34337600	Weak transcription	HepG2	liver
39	chr11:34336800-34338000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:34336800-34338600	Enhancers	Psoas Muscle	Psoas
41	chr11:34336800-34338800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:34336800-34338800	Enhancers	HSMMtube	muscle
43	chr11:34336800-34341200	Enhancers	Left Ventricle	heart
44	chr11:34337000-34337800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr11:34337000-34337800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:34337000-34338600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:34337000-34338600	Enhancers	Right Atrium	heart
48	chr11:34337000-34338800	Enhancers	Fetal Lung	lung
49	chr11:34337000-34339000	Enhancers	Brain Anterior Caudate	brain
50	chr11:34337000-34339200	Enhancers	Brain Hippocampus Middle	brain

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