Variant report

Variant	esv3356439
Chromosome Location	chr11:9525333-9527227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9480912..9484218-chr11:9526454..9530428,5	K562	blood:
2	chr11:9526683..9529040-chr11:9771305..9773861,2	K562	blood:

Variant related genes	Relation type
ENSG00000166478	chromatin interactions
ENSG00000268403	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533676813	chr11:9525334-9525335	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547258935	chr11:9525336-9525337	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567081233	chr11:9525355-9525356	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552670096	chr11:9525392-9525393	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185818055	chr11:9525398-9525399	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569300441	chr11:9525413-9525414	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537887766	chr11:9525425-9525426	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373587278	chr11:9525440-9525441	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541909496	chr11:9525446-9525447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190182249	chr11:9525511-9525512	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397849004	chr11:9525523-9525524	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35371465	chr11:9525524-9525525	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs71476834	chr11:9525533-9525534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570695119	chr11:9525561-9525562	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34712448	chr11:9525562-9525563	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530270427	chr11:9525567-9525568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181884159	chr11:9525571-9525572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572721423	chr11:9525611-9525612	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541588457	chr11:9525630-9525631	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376740069	chr11:9525666-9525667	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544027691	chr11:9525699-9525700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563947175	chr11:9525720-9525721	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543920817	chr11:9525754-9525755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564103411	chr11:9525797-9525798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532918157	chr11:9525798-9525799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540932968	chr11:9525807-9525808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146518024	chr11:9525863-9525864	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529529082	chr11:9525879-9525880	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187375312	chr11:9525920-9525921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569281450	chr11:9525931-9525932	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539464827	chr11:9525963-9525964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368453255	chr11:9526006-9526007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191977174	chr11:9526012-9526013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551543242	chr11:9526022-9526023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7123214	chr11:9526105-9526106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141084974	chr11:9526106-9526107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74541265	chr11:9526126-9526127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12275665	chr11:9526212-9526213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12293808	chr11:9526213-9526214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552861313	chr11:9526224-9526225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201748353	chr11:9526225-9526226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12275669	chr11:9526226-9526227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs535291467	chr11:9526248-9526249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555532227	chr11:9526267-9526268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575289652	chr11:9526293-9526294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180719092	chr11:9526310-9526311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373313820	chr11:9526324-9526325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565902697	chr11:9526368-9526369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540202450	chr11:9526372-9526373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12293911	chr11:9526410-9526411	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
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
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9491400-9525400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr11:9492200-9525400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
7	chr11:9495600-9525400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:9496600-9528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:9499200-9526000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:9501800-9534000	Weak transcription	Psoas Muscle	Psoas
11	chr11:9506800-9525400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:9506800-9525400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:9507200-9525400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:9507200-9525400	Strong transcription	Adipose Nuclei	Adipose
15	chr11:9509200-9525400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:9509200-9525400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:9509200-9525400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:9511600-9527800	Weak transcription	Hela-S3	cervix
19	chr11:9511600-9528200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:9511600-9528400	Weak transcription	NHLF	lung
21	chr11:9512200-9525400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:9514400-9525400	Strong transcription	Primary T cells from cord blood	blood
23	chr11:9515400-9525400	Strong transcription	Fetal Thymus	thymus
24	chr11:9515400-9525800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:9515600-9525400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:9515600-9525400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr11:9515600-9525400	Strong transcription	Thymus	Thymus
28	chr11:9515800-9525400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:9515800-9525400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:9515800-9525800	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr11:9516000-9525400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:9517400-9525400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:9518600-9530000	Weak transcription	NHEK	skin
34	chr11:9518800-9534000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:9519200-9532000	Weak transcription	NHDF-Ad	bronchial
36	chr11:9519200-9534200	Weak transcription	Fetal Brain Female	brain
37	chr11:9519600-9525800	Strong transcription	Brain Germinal Matrix	brain
38	chr11:9520600-9525400	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:9520600-9528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:9520600-9530000	Weak transcription	Stomach Mucosa	stomach
41	chr11:9520600-9532200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:9520800-9528200	Weak transcription	A549	lung
43	chr11:9521000-9545200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:9521200-9528200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:9521400-9526800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:9521400-9527800	Strong transcription	Fetal Intestine Small	intestine
47	chr11:9521600-9532200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr11:9521800-9530200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:9522000-9525800	Strong transcription	Fetal Intestine Large	intestine
50	chr11:9522000-9530400	Weak transcription	Primary hematopoietic stem cells	blood

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