Variant report

Variant	esv3343016
Chromosome Location	chr11:8221776-8224074
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8219696..8221882-chr11:8224030..8227139,3	K562	blood:
2	chr11:8216194..8218883-chr11:8223154..8225386,2	K562	blood:
3	chr11:8218272..8221882-chr11:8224030..8226570,5	K562	blood:
4	chr11:8218272..8221882-chr11:8224030..8226570,5	K562	blood:
5	chr11:8219696..8221882-chr11:8224030..8227139,3	K562	blood:
6	chr11:8220775..8223100-chr11:8236365..8237954,2	K562	blood:
7	chr11:8223360..8225653-chr11:8985762..8987357,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LMO1-2	chr11:8223002-8230737	NONHSAT017846

No data

Variant related genes	Relation type
ENSG00000254860	chromatin interactions
ENSG00000175348	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573190287	chr11:8221776-8221777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77699759	chr11:8221798-8221799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138377246	chr11:8221829-8221830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373414841	chr11:8221831-8221832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573886514	chr11:8221925-8221926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373758538	chr11:8221935-8221936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188834321	chr11:8222024-8222025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143843013	chr11:8222038-8222039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4539318	chr11:8222060-8222061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564529328	chr11:8222090-8222091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192172709	chr11:8222161-8222162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138472273	chr11:8222167-8222168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs67639141	chr11:8222173-8222174	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371094070	chr11:8222240-8222241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141353652	chr11:8222262-8222263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528360460	chr11:8222271-8222272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4636658	chr11:8222286-8222287	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs373938980	chr11:8222300-8222301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117450440	chr11:8222302-8222303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11041802	chr11:8222325-8222326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537017134	chr11:8222341-8222342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112891665	chr11:8222349-8222350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187339470	chr11:8222375-8222376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71059157	chr11:8222398-8222399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12799703	chr11:8222400-8222401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10590189	chr11:8222420-8222421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375264701	chr11:8222429-8222430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552471318	chr11:8222443-8222444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191871553	chr11:8222464-8222465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369499073	chr11:8222466-8222467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370204593	chr11:8222489-8222490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373536943	chr11:8222490-8222491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376486538	chr11:8222528-8222529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373831195	chr11:8222549-8222550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535690326	chr11:8222551-8222552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10743060	chr11:8222552-8222553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555989141	chr11:8222616-8222617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575855255	chr11:8222682-8222683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186866394	chr11:8222692-8222693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34556573	chr11:8222693-8222694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11041803	chr11:8222695-8222696	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11041804	chr11:8222701-8222702	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs578139905	chr11:8222735-8222736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377345033	chr11:8222830-8222831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192390235	chr11:8222840-8222841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184355050	chr11:8222846-8222847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71463718	chr11:8222858-8222859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373810568	chr11:8222864-8222865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs57957308	chr11:8222866-8222867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376910656	chr11:8222867-8222868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	17440070	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8217400-8223200	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:8217600-8223800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:8218800-8223000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:8219000-8223200	Weak transcription	Brain Substantia Nigra	brain
5	chr11:8219200-8222600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:8219600-8223000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:8219600-8223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:8219800-8223000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr11:8220000-8223000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:8220200-8222000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr11:8220200-8222600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr11:8222000-8223000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr11:8222600-8227400	Enhancers	Primary B cells from cord blood	blood
14	chr11:8222600-8227400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:8222600-8228000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:8223000-8223200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:8223000-8223800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:8223000-8224600	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:8223000-8224600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr11:8223000-8225200	Enhancers	Adipose Nuclei	Adipose
21	chr11:8223000-8225400	Enhancers	Fetal Lung	lung
22	chr11:8223000-8227200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr11:8223000-8227200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:8223000-8227400	Enhancers	Brain Germinal Matrix	brain
25	chr11:8223000-8228000	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:8223000-8228800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:8223200-8223400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr11:8223200-8223400	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:8223200-8223400	Enhancers	Brain Substantia Nigra	brain
30	chr11:8223200-8223400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr11:8223200-8223400	Enhancers	Fetal Muscle Trunk	muscle
32	chr11:8223200-8223400	Enhancers	GM12878-XiMat	blood
33	chr11:8223200-8223600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:8223200-8223600	Enhancers	Fetal Thymus	thymus
35	chr11:8223200-8223600	Enhancers	Left Ventricle	heart
36	chr11:8223200-8224000	Enhancers	K562	blood
37	chr11:8223200-8224200	Enhancers	Brain Anterior Caudate	brain
38	chr11:8223200-8224600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:8223200-8224600	Enhancers	Fetal Muscle Leg	muscle
40	chr11:8223200-8225000	Enhancers	Fetal Brain Male	brain
41	chr11:8223200-8225200	Enhancers	Fetal Brain Female	brain
42	chr11:8223200-8225200	Enhancers	Spleen	Spleen
43	chr11:8223200-8225800	Enhancers	Brain Hippocampus Middle	brain
44	chr11:8223400-8223600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr11:8223400-8223600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:8223400-8223600	Flanking Active TSS	GM12878-XiMat	blood
47	chr11:8223400-8223800	Weak transcription	Brain Substantia Nigra	brain
48	chr11:8223400-8224800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr11:8223400-8225800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr11:8223400-8227400	Weak transcription	Brain Cingulate Gyrus	brain

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