Variant report

Variant	nsv518924
Chromosome Location	chr11:34942576-34944371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr11:34942393-34942698	SK-N-SH_RA	brain:	n/a	n/a
2	MYC	chr11:34943952-34943963	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr11:34944201-34944229	ProgFib	skin:	n/a	n/a
4	POLR2A	chr11:34942517-34942694	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:34944242-34944356	ProgFib	skin:	n/a	n/a
6	POLR2A	chr11:34943842-34943902	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:34944143-34944343	K562	blood:	n/a	n/a
8	POLR2A	chr11:34944128-34944474	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:34944057-34944131	ProgFib	skin:	n/a	n/a
10	STAT1	chr11:34943692-34943785	GM12878	blood:	n/a	n/a
11	STAT3	chr11:34942889-34943238	MCF10A-Er-Src	breast:	n/a	chr11:34942973-34942981

No.	Distal block	Cell Line	Cell type
1	chr11:34932295..34934736-chr11:34941620..34944045,2	MCF-7	breast:
2	chr11:34942697..34945540-chr11:34950429..34952948,3	K562	blood:
3	chr11:34943666..34945334-chr11:34948612..34950173,2	MCF-7	breast:
4	chr11:34941386..34944859-chr11:34946221..34949330,3	K562	blood:
5	chr11:34940522..34942447-chr11:34942724..34944906,2	K562	blood:

Variant related genes	Relation type
APIP	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17433496	chr11:34942576-34942577	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543598876	chr11:34942591-34942592	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185429671	chr11:34942607-34942608	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs150037716	chr11:34942620-34942621	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs551228068	chr11:34942711-34942712	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144363374	chr11:34942769-34942770	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527449264	chr11:34942800-34942801	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11032927	chr11:34942836-34942837	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs372671995	chr11:34942905-34942906	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs552970716	chr11:34942924-34942925	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs79433333	chr11:34942925-34942926	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs189184361	chr11:34942960-34942961	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs531314324	chr11:34942980-34942981	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs111687997	chr11:34942991-34942992	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs67835675	chr11:34942992-34942993	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs536345695	chr11:34942993-34942994	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs371644073	chr11:34942994-34942995	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs56071710	chr11:34942997-34942998	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549933176	chr11:34943039-34943040	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs191987466	chr11:34943053-34943054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538659164	chr11:34943078-34943079	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375475731	chr11:34943118-34943119	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569282841	chr11:34943146-34943147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75926294	chr11:34943183-34943184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2915202	chr11:34943229-34943230	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs555142018	chr11:34943313-34943314	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543641009	chr11:34943316-34943317	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562435990	chr11:34943350-34943351	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372535266	chr11:34943362-34943363	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12282098	chr11:34943491-34943492	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs553175892	chr11:34943515-34943516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370716213	chr11:34943523-34943524	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140125877	chr11:34943607-34943608	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547789149	chr11:34943623-34943624	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545798841	chr11:34943650-34943651	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564800338	chr11:34943695-34943696	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2915201	chr11:34943747-34943748	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs113135955	chr11:34943754-34943755	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377310120	chr11:34943771-34943772	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12295408	chr11:34943954-34943955	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs577898490	chr11:34943991-34943992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551498299	chr11:34944028-34944029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372457377	chr11:34944045-34944046	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143938621	chr11:34944100-34944101	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184494294	chr11:34944115-34944116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72930480	chr11:34944164-34944165	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs188500447	chr11:34944181-34944182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558998442	chr11:34944193-34944194	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146872091	chr11:34944197-34944198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12270487	chr11:34944212-34944213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34938800-34951400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:34938800-34957400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:34938800-34990400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:34939000-34950600	Weak transcription	Gastric	stomach
5	chr11:34939200-34948000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:34939200-34950000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:34939200-34950200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:34939200-34952200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:34939200-34952800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:34939200-34953000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr11:34939200-34953400	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:34939200-34956000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:34939200-35000000	Weak transcription	Thymus	Thymus
14	chr11:34939400-34942800	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:34939400-34945200	Weak transcription	HSMMtube	muscle
16	chr11:34939400-34947800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:34939400-34952800	Weak transcription	Primary B cells from cord blood	blood
18	chr11:34939400-34953200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:34939400-34953400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:34939600-34943000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr11:34939600-34945600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:34939600-34946600	Weak transcription	Stomach Mucosa	stomach
23	chr11:34939600-34947600	Weak transcription	Fetal Kidney	kidney
24	chr11:34939600-34947800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:34939600-34949400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:34939600-34949800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:34939600-34950200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:34939600-34962600	Weak transcription	Right Ventricle	heart
29	chr11:34939800-34942800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:34939800-34947400	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:34939800-34949600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:34939800-34950800	Weak transcription	Pancreas	Pancrea
33	chr11:34939800-34951200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:34939800-34951400	Weak transcription	Fetal Intestine Small	intestine
35	chr11:34939800-34953800	Weak transcription	Placenta	Placenta
36	chr11:34939800-34960400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:34940000-34943600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:34940000-34946200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:34940000-34946800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:34940000-34947800	Weak transcription	HSMM	muscle
41	chr11:34940000-34947800	Weak transcription	HUVEC	blood vessel
42	chr11:34940000-34950800	Weak transcription	Right Atrium	heart
43	chr11:34940000-34954000	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:34940000-34959200	Weak transcription	Fetal Brain Male	brain
45	chr11:34940000-34963800	Weak transcription	Spleen	Spleen
46	chr11:34940200-34946600	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:34940200-34946800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:34940200-34947400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:34940200-34947600	Weak transcription	Brain Anterior Caudate	brain
50	chr11:34940200-34947800	Weak transcription	HMEC	breast

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