Variant report

Variant	nsv972047
Chromosome Location	chr11:74688078-74690431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74683026..74685612-chr11:74686359..74688644,3	K562	blood:
2	chr11:74687560..74690870-chr11:74698064..74700699,3	MCF-7	breast:
3	chr11:74670533..74672513-chr11:74690416..74693115,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEU3-1	chr11:74688155-74688662	NONHSAT022974

Variant related genes	Relation type
ENSG00000162139	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573389980	chr11:74688106-74688107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545646797	chr11:74688116-74688117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565261817	chr11:74688143-74688144	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556931340	chr11:74688150-74688151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530768653	chr11:74688232-74688233	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs3866803	chr11:74688233-74688234	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs200277049	chr11:74688395-74688396	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs544211111	chr11:74688598-74688599	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs114022585	chr11:74688635-74688636	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs142420779	chr11:74688780-74688781	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs144577524	chr11:74688934-74688935	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs151318108	chr11:74689036-74689037	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575220318	chr11:74689050-74689051	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565853645	chr11:74689056-74689057	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs74917360	chr11:74689058-74689059	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539078197	chr11:74689059-74689060	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183756049	chr11:74689076-74689077	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs140614202	chr11:74689084-74689085	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149867122	chr11:74689129-74689130	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371397950	chr11:74689141-74689142	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77324059	chr11:74689162-74689163	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs147562629	chr11:74689209-74689210	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375670920	chr11:74689358-74689359	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189300997	chr11:74689366-74689367	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537054	chr11:74689372-74689373	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs573360651	chr11:74689400-74689401	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142007383	chr11:74689421-74689422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539928805	chr11:74689454-74689455	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558788986	chr11:74689490-74689491	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575525099	chr11:74689500-74689501	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544552991	chr11:74689508-74689509	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538015301	chr11:74689530-74689531	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146058631	chr11:74689531-74689532	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200257038	chr11:74689598-74689599	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116386889	chr11:74689625-74689626	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75021616	chr11:74689650-74689651	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192548097	chr11:74689713-74689714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369427124	chr11:74689723-74689724	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs574102856	chr11:74689786-74689787	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184227821	chr11:74689800-74689801	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs551593089	chr11:74689852-74689853	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs547993291	chr11:74689948-74689949	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565121735	chr11:74689978-74689979	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs116956418	chr11:74689981-74689982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371734594	chr11:74689983-74689984	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs563005935	chr11:74690005-74690006	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113229311	chr11:74690016-74690017	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs190332961	chr11:74690056-74690057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374906153	chr11:74690159-74690160	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs181846888	chr11:74690183-74690184	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	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

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74661200-74688600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:74661800-74699200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:74661800-74699400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:74662200-74699600	Weak transcription	Esophagus	oesophagus
5	chr11:74662400-74691400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:74667600-74689000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:74667800-74692200	Strong transcription	Dnd41	blood
8	chr11:74672000-74692000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:74672400-74690600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:74673400-74691000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:74673400-74694400	Weak transcription	Stomach Mucosa	stomach
12	chr11:74673800-74691600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr11:74674000-74692200	Strong transcription	GM12878-XiMat	blood
14	chr11:74674400-74690600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:74674600-74692000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:74674600-74692000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:74674800-74692400	Strong transcription	Fetal Thymus	thymus
18	chr11:74675000-74692000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:74675000-74692200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr11:74675200-74691400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr11:74675200-74691400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:74675200-74692200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:74675400-74689600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:74675600-74692000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:74675600-74692200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:74675600-74699400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:74675800-74692200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:74676400-74689000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:74676600-74690200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:74676600-74690200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:74676600-74691800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:74676600-74691800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:74677000-74691600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:74677200-74689600	Strong transcription	Fetal Lung	lung
35	chr11:74677200-74691400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:74677200-74692400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr11:74677200-74692400	Strong transcription	Fetal Muscle Leg	muscle
38	chr11:74677200-74692600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:74677200-74692600	Strong transcription	Thymus	Thymus
40	chr11:74677200-74693400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:74677600-74691200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:74677600-74693800	Strong transcription	HSMM	muscle
43	chr11:74677800-74689600	Strong transcription	NHLF	lung
44	chr11:74678600-74699200	Weak transcription	Spleen	Spleen
45	chr11:74679800-74689600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr11:74679800-74691600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:74680200-74690200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:74680200-74691000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:74680200-74691200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:74680200-74692200	Strong transcription	Primary T cells from cord blood	blood

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