Variant report

Variant	nsv972915
Chromosome Location	chr11:18571883-18591969
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18580055..18582658-chr11:18588074..18589953,2	K562	blood:
2	chr11:18415455..18417591-chr11:18589916..18591501,2	K562	blood:
3	chr11:18580055..18582658-chr11:18588074..18589953,2	K562	blood:
4	chr11:18587416..18589791-chr11:18609547..18612734,3	MCF-7	breast:
5	chr11:18572038..18574109-chr11:18607520..18610133,2	MCF-7	breast:
6	chr11:18583329..18585066-chr11:18599311..18602304,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LDHAL6A-2	chr11:18581895-18582015	ucscGeneNc_uc001mox_2
2	lnc-LDHAL6A-2	chr11:18581110-18581318	ucscGeneNc_uc001mox_2

No data

Variant related genes	Relation type
ENSG00000151116	chromatin interactions
ENSG00000134333	chromatin interactions

Extended variants
information (count: 747 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:747 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552508954	chr11:18571885-18571886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571015845	chr11:18571898-18571899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199918698	chr11:18571937-18571938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201221761	chr11:18571957-18571958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538585841	chr11:18571963-18571964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189830717	chr11:18572031-18572032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574922400	chr11:18572083-18572084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180680290	chr11:18572117-18572118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149254898	chr11:18572143-18572144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7107057	chr11:18572160-18572161	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs147348287	chr11:18572191-18572192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557706706	chr11:18572231-18572232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139795506	chr11:18572235-18572236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369180860	chr11:18572259-18572260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7107204	chr11:18572279-18572280	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529126181	chr11:18572281-18572282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533287656	chr11:18572322-18572323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540630794	chr11:18572344-18572345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147618717	chr11:18572369-18572370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187428351	chr11:18572459-18572460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551454236	chr11:18572460-18572461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570986643	chr11:18572463-18572464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7119085	chr11:18572477-18572478	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs376287883	chr11:18572502-18572503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34081721	chr11:18572542-18572543	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs568791127	chr11:18572548-18572549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536108954	chr11:18572612-18572613	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368554964	chr11:18572700-18572701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370383636	chr11:18572718-18572719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566053887	chr11:18572757-18572758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539592897	chr11:18572829-18572830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558208563	chr11:18572878-18572879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77579478	chr11:18572925-18572926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543236608	chr11:18572946-18572947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199756670	chr11:18572951-18572952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386751182	chr11:18572952-18572953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34545423	chr11:18572970-18572971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397722608	chr11:18572986-18572987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368317226	chr11:18573010-18573011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371809064	chr11:18573011-18573012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555098254	chr11:18573031-18573032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148652376	chr11:18573126-18573127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542953043	chr11:18573167-18573168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540920199	chr11:18573168-18573169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115720216	chr11:18573233-18573234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114270031	chr11:18573289-18573290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142165305	chr11:18573344-18573345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs16935538	chr11:18573347-18573348	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs191835100	chr11:18573395-18573396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375062769	chr11:18573452-18573453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:637 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18549000-18576400	Weak transcription	Gastric	stomach
2	chr11:18549000-18577000	Weak transcription	Spleen	Spleen
3	chr11:18549200-18577000	Weak transcription	Esophagus	oesophagus
4	chr11:18549200-18583400	Weak transcription	Small Intestine	intestine
5	chr11:18549200-18591400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:18549400-18576000	Weak transcription	Ovary	ovary
7	chr11:18549400-18576400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:18549400-18577000	Weak transcription	Colonic Mucosa	Colon
9	chr11:18549400-18579200	Weak transcription	Pancreas	Pancrea
10	chr11:18549400-18583400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:18549400-18594400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:18549600-18575000	Weak transcription	Fetal Brain Female	brain
13	chr11:18549600-18575200	Weak transcription	Fetal Kidney	kidney
14	chr11:18549600-18576400	Weak transcription	Brain Substantia Nigra	brain
15	chr11:18549600-18576600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:18549600-18576800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:18549600-18577200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:18549600-18577800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:18549600-18608600	Weak transcription	Fetal Heart	heart
20	chr11:18549600-18609000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:18549600-18609000	Weak transcription	Fetal Brain Male	brain
22	chr11:18549800-18575000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:18549800-18576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:18549800-18576400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:18549800-18577000	Weak transcription	Primary T cells from cord blood	blood
26	chr11:18549800-18582400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:18549800-18588200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:18549800-18592000	Weak transcription	NHLF	lung
29	chr11:18549800-18594400	Weak transcription	K562	blood
30	chr11:18549800-18600600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:18550400-18575200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:18550600-18591400	Weak transcription	Dnd41	blood
33	chr11:18552600-18601400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:18554000-18576000	Weak transcription	Brain Angular Gyrus	brain
35	chr11:18555800-18576400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:18555800-18582800	Weak transcription	NHEK	skin
37	chr11:18557800-18576600	Weak transcription	Psoas Muscle	Psoas
38	chr11:18558400-18576200	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:18558400-18592200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:18559200-18592800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:18560600-18576200	Weak transcription	Brain Anterior Caudate	brain
42	chr11:18562200-18598200	Weak transcription	Stomach Mucosa	stomach
43	chr11:18562400-18573600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:18562600-18573400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:18563200-18601200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr11:18563400-18572600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:18563800-18608800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:18564000-18586400	Weak transcription	GM12878-XiMat	blood
49	chr11:18564200-18576200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:18565000-18573800	Strong transcription	Liver	Liver

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