Variant report

Variant	nsv526628
Chromosome Location	chr11:47165106-47168254
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	chr11:47162453..47166224-chr11:47170564..47174791,5	MCF-7	breast:
2	chr11:47150930..47153919-chr11:47165271..47167025,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255520	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 58 )

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	rs7121418	chr11:47165106-47165107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183135440	chr11:47165112-47165113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567540625	chr11:47165127-47165128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536186698	chr11:47165148-47165149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147276769	chr11:47165204-47165205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572846383	chr11:47165237-47165238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550700136	chr11:47165300-47165301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs377552701	chr11:47165329-47165330	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs140777039	chr11:47165344-47165345	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558642694	chr11:47165351-47165352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6485743	chr11:47165365-47165366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187471019	chr11:47165376-47165377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192015440	chr11:47165398-47165399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530406863	chr11:47165528-47165529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530327227	chr11:47165535-47165536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540598307	chr11:47165545-47165546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553400829	chr11:47165567-47165568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560435199	chr11:47165596-47165597	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566839384	chr11:47165604-47165605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184165790	chr11:47165655-47165656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs188004392	chr11:47165661-47165662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201165399	chr11:47165749-47165750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs569006522	chr11:47165756-47165757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76198781	chr11:47165759-47165760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs77556659	chr11:47165760-47165761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192836842	chr11:47165815-47165816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs142808031	chr11:47165821-47165822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184418915	chr11:47165826-47165827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536465769	chr11:47165896-47165897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546540575	chr11:47165929-47165930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150771375	chr11:47166016-47166017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538589764	chr11:47166062-47166063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373394167	chr11:47166086-47166087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189348605	chr11:47166093-47166094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537581041	chr11:47166119-47166120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555125741	chr11:47166162-47166163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139222655	chr11:47166206-47166207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs540839187	chr11:47166240-47166241	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78059266	chr11:47166249-47166250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534857980	chr11:47166259-47166260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375032979	chr11:47166286-47166287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557981969	chr11:47166287-47166288	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11039109	chr11:47166351-47166352	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35698813	chr11:47166376-47166377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562576811	chr11:47166397-47166398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531809394	chr11:47166401-47166402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs552420432	chr11:47166416-47166417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548363114	chr11:47166423-47166424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562223347	chr11:47166434-47166435	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529807972	chr11:47166453-47166454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	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
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47143600-47175200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:47145200-47174800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:47149000-47170400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:47149400-47173200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:47149600-47170400	Weak transcription	Esophagus	oesophagus
6	chr11:47151200-47170600	Weak transcription	Gastric	stomach
7	chr11:47153000-47174400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:47153400-47174800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:47155400-47170200	Weak transcription	Stomach Mucosa	stomach
10	chr11:47155600-47170200	Weak transcription	Small Intestine	intestine
11	chr11:47155600-47174400	Weak transcription	Fetal Brain Male	brain
12	chr11:47157600-47170400	Weak transcription	Colonic Mucosa	Colon
13	chr11:47157800-47169800	Weak transcription	Brain Germinal Matrix	brain
14	chr11:47158000-47174800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:47158800-47165200	Weak transcription	Osteobl	bone
16	chr11:47158800-47175000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:47159400-47171200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:47159600-47174000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:47159800-47174200	Weak transcription	Primary B cells from cord blood	blood
20	chr11:47160000-47165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:47160000-47169200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:47160000-47169200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:47160000-47169600	Weak transcription	Lung	lung
24	chr11:47160000-47170400	Weak transcription	Adipose Nuclei	Adipose
25	chr11:47160000-47171000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:47160000-47174000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr11:47160000-47176400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:47160200-47169800	Weak transcription	HepG2	liver
29	chr11:47160200-47170400	Weak transcription	Fetal Brain Female	brain
30	chr11:47160200-47174000	Weak transcription	Primary T cells from cord blood	blood
31	chr11:47160200-47174000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr11:47160200-47174200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr11:47160400-47169600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:47160400-47170600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:47161400-47169800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:47161600-47169600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:47161600-47170000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:47161600-47170400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:47161600-47170400	Weak transcription	Fetal Thymus	thymus
40	chr11:47161600-47173800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:47161600-47174400	Weak transcription	Spleen	Spleen
42	chr11:47161600-47174600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:47161600-47176000	Weak transcription	Dnd41	blood
44	chr11:47161800-47169000	Weak transcription	Thymus	Thymus
45	chr11:47161800-47169400	Weak transcription	Fetal Intestine Large	intestine
46	chr11:47161800-47170200	Weak transcription	Brain Angular Gyrus	brain
47	chr11:47161800-47170600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:47161800-47174000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:47162400-47168800	Weak transcription	Fetal Intestine Small	intestine
50	chr11:47162800-47170200	Weak transcription	Hela-S3	cervix

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