Variant report

Variant	nsv972922
Chromosome Location	chr11:46067269-46071441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46055765..46058597-chr11:46066752..46069410,2	K562	blood:
2	chr11:46056098..46058003-chr11:46069480..46071245,2	K562	blood:
3	chr11:46030678..46033076-chr11:46065487..46067655,2	K562	blood:
4	chr11:46063923..46066658-chr11:46067214..46069257,2	MCF-7	breast:
5	chr11:46064941..46067349-chr19:13956189..13958474,2	MCF-7	breast:
6	chr11:46069599..46074824-chr11:46075109..46078382,5	K562	blood:
7	chr11:46063771..46065667-chr11:46071208..46072854,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150319005	chr11:46067276-46067277	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575574779	chr11:46067314-46067315	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532117465	chr11:46067333-46067334	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138905214	chr11:46067488-46067489	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186934414	chr11:46067503-46067504	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537107289	chr11:46067517-46067518	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142138238	chr11:46067518-46067519	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371422108	chr11:46067592-46067593	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59130252	chr11:46067595-46067596	Weak transcription Flanking Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560762927	chr11:46067610-46067611	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191351717	chr11:46067612-46067613	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146396740	chr11:46067644-46067645	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557428042	chr11:46067683-46067684	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571299871	chr11:46067691-46067692	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530414073	chr11:46067710-46067711	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183689228	chr11:46067824-46067825	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567175404	chr11:46067839-46067840	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536162731	chr11:46067874-46067875	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76464147	chr11:46067918-46067919	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192700184	chr11:46067954-46067955	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560967418	chr11:46067959-46067960	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566643922	chr11:46067961-46067962	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568787726	chr11:46067996-46067997	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538486481	chr11:46068034-46068035	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138455095	chr11:46068099-46068100	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575850492	chr11:46068161-46068162	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142787919	chr11:46068174-46068175	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555009601	chr11:46068236-46068237	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555683239	chr11:46068245-46068246	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140368358	chr11:46068297-46068298	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371771370	chr11:46068342-46068343	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575160333	chr11:46068364-46068365	Enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189536036	chr11:46068545-46068546	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540910271	chr11:46068575-46068576	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376018191	chr11:46068624-46068625	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78131170	chr11:46068647-46068648	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532734007	chr11:46068674-46068675	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372287878	chr11:46068707-46068708	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546119915	chr11:46068837-46068838	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375146676	chr11:46068915-46068916	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77892629	chr11:46068923-46068924	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181949950	chr11:46068948-46068949	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144216894	chr11:46068952-46068953	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572396691	chr11:46069007-46069008	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541024631	chr11:46069011-46069012	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529675599	chr11:46069031-46069032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185302170	chr11:46069032-46069033	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557826701	chr11:46069043-46069044	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148713359	chr11:46069168-46069169	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566701845	chr11:46069175-46069176	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	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
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46001400-46070400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:46022000-46074600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:46039200-46077200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:46039400-46096800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:46041000-46071000	Weak transcription	Placenta	Placenta
6	chr11:46041200-46070800	Weak transcription	Thymus	Thymus
7	chr11:46041400-46086600	Weak transcription	Fetal Intestine Large	intestine
8	chr11:46042000-46071000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:46042000-46071000	Weak transcription	Brain Angular Gyrus	brain
10	chr11:46043200-46071000	Weak transcription	Lung	lung
11	chr11:46043200-46086800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:46044400-46071000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:46044400-46071200	Weak transcription	Fetal Intestine Small	intestine
14	chr11:46045000-46070600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:46045000-46087000	Weak transcription	Hela-S3	cervix
16	chr11:46048000-46070400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:46048600-46070600	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:46049200-46071000	Weak transcription	Fetal Brain Male	brain
19	chr11:46049200-46078800	Weak transcription	Aorta	Aorta
20	chr11:46049400-46068400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:46049400-46071000	Weak transcription	HSMM	muscle
22	chr11:46049600-46069200	Weak transcription	HSMMtube	muscle
23	chr11:46053200-46071000	Weak transcription	Gastric	stomach
24	chr11:46055400-46070400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:46056400-46067600	Weak transcription	Psoas Muscle	Psoas
26	chr11:46057400-46071000	Weak transcription	NHDF-Ad	bronchial
27	chr11:46059200-46071000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:46060600-46067600	Weak transcription	Left Ventricle	heart
29	chr11:46061600-46068600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:46061800-46070600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:46061800-46070600	Weak transcription	Fetal Stomach	stomach
32	chr11:46062000-46070600	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:46062000-46100800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:46062200-46067800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:46062200-46070800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:46062200-46071000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:46062200-46071000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:46062200-46071000	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:46062200-46071600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:46062200-46071800	Weak transcription	Small Intestine	intestine
41	chr11:46062400-46071200	Weak transcription	Osteobl	bone
42	chr11:46062600-46070200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:46062600-46070400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:46062600-46070400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:46062600-46070600	Weak transcription	Fetal Lung	lung
46	chr11:46062600-46071000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:46062600-46071200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:46062800-46067400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:46062800-46070600	Weak transcription	Primary T cells from cord blood	blood
50	chr11:46062800-46070600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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