Variant report

Variant	nsv1050413
Chromosome Location	chr11:34237529-34259820
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34229441..34231710-chr11:34255472..34258756,3	MCF-7	breast:
2	chr11:34244635..34246968-chr11:34254432..34256180,2	K562	blood:
3	chr11:34244635..34246968-chr11:34254432..34256180,2	K562	blood:
4	chr11:34243758..34246398-chr11:34366962..34369270,2	MCF-7	breast:
5	chr11:34257238..34258836-chr11:34262928..34265413,2	MCF-7	breast:
6	chr11:34256033..34257760-chr11:34260641..34262431,2	K562	blood:
7	chr11:34231932..34233684-chr11:34247435..34249545,2	K562	blood:
8	chr11:34256786..34259420-chr11:34262602..34265053,3	K562	blood:
9	chr11:34242165..34244908-chr11:34379144..34380922,2	MCF-7	breast:
10	chr11:34244635..34246968-chr11:34254314..34256180,3	K562	blood:
11	chr11:34244635..34246968-chr11:34254314..34256180,3	K562	blood:
12	chr11:34254769..34257518-chr11:34263900..34266853,2	K562	blood:
13	chr11:34239663..34242174-chr11:34378440..34380347,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166016	chromatin interactions

Extended variants
information (count: 1009 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1009 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11032559	chr11:34237529-34237530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554067799	chr11:34237565-34237566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146333441	chr11:34237621-34237622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536233313	chr11:34237644-34237645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185253689	chr11:34237654-34237655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576410779	chr11:34237726-34237727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7125070	chr11:34237778-34237779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113521908	chr11:34237820-34237821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557631501	chr11:34237825-34237826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116508430	chr11:34237845-34237846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35867015	chr11:34237874-34237875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540081607	chr11:34237903-34237904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368228004	chr11:34237920-34237921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147884050	chr11:34237945-34237946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112671846	chr11:34237974-34237975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117514681	chr11:34237984-34237985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141640351	chr11:34238011-34238012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7949361	chr11:34238019-34238020	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531269343	chr11:34238020-34238021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551472460	chr11:34238064-34238065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111824954	chr11:34238079-34238080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189964711	chr11:34238110-34238111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547622178	chr11:34238114-34238115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371243718	chr11:34238128-34238129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536548112	chr11:34238140-34238141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549722428	chr11:34238162-34238163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182376135	chr11:34238263-34238264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147072433	chr11:34238360-34238361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201202500	chr11:34238418-34238419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs59951064	chr11:34238421-34238422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187239130	chr11:34238446-34238447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2179829	chr11:34238449-34238450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs138223065	chr11:34238450-34238451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191991036	chr11:34238464-34238465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542953850	chr11:34238506-34238507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149601808	chr11:34238516-34238517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573765836	chr11:34238517-34238518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148373478	chr11:34238536-34238537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113304139	chr11:34238547-34238548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56404432	chr11:34238557-34238558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183472309	chr11:34238572-34238573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375797115	chr11:34238580-34238581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540835639	chr11:34238618-34238619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112860272	chr11:34238635-34238636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142277906	chr11:34238650-34238651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7114749	chr11:34238653-34238654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570279697	chr11:34238674-34238675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539007748	chr11:34238703-34238704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552330411	chr11:34238727-34238728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7114888	chr11:34238774-34238775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Autism	22495311	CNVD
Prostate cancer	18632612	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
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34219000-34240800	Weak transcription	Left Ventricle	heart
2	chr11:34226600-34244600	Weak transcription	Small Intestine	intestine
3	chr11:34227000-34244400	Weak transcription	Pancreas	Pancrea
4	chr11:34229200-34243000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:34230600-34238600	Weak transcription	Psoas Muscle	Psoas
6	chr11:34230600-34244400	Weak transcription	Right Ventricle	heart
7	chr11:34230800-34241000	Weak transcription	Placenta	Placenta
8	chr11:34232400-34241800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:34234800-34241600	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:34235200-34237600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr11:34235200-34237600	Enhancers	Hela-S3	cervix
12	chr11:34235600-34245600	Weak transcription	Spleen	Spleen
13	chr11:34236200-34238000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:34236400-34237800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:34236400-34237800	Enhancers	HMEC	breast
16	chr11:34236600-34237800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:34236800-34237800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:34236800-34238600	Weak transcription	Gastric	stomach
19	chr11:34236800-34241200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:34236800-34241800	Weak transcription	Lung	lung
21	chr11:34236800-34244200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:34236800-34244400	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:34237000-34239400	Weak transcription	Fetal Lung	lung
24	chr11:34237000-34241200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:34237000-34241200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:34237000-34241200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:34237000-34244200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:34237000-34244200	Weak transcription	Osteobl	bone
29	chr11:34237000-34244400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:34237000-34244400	Weak transcription	Right Atrium	heart
31	chr11:34237000-34244400	Weak transcription	HSMMtube	muscle
32	chr11:34237200-34238200	Enhancers	A549	lung
33	chr11:34237200-34240000	Weak transcription	HepG2	liver
34	chr11:34237200-34241200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:34237200-34243800	Weak transcription	Liver	Liver
36	chr11:34237200-34255600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:34238200-34238600	Weak transcription	A549	lung
38	chr11:34238600-34238800	Enhancers	A549	lung
39	chr11:34238600-34239200	Enhancers	Psoas Muscle	Psoas
40	chr11:34238800-34239800	Weak transcription	A549	lung
41	chr11:34239200-34240800	Weak transcription	Psoas Muscle	Psoas
42	chr11:34239400-34242000	Enhancers	Fetal Lung	lung
43	chr11:34239800-34242200	Enhancers	A549	lung
44	chr11:34240000-34242000	Enhancers	HepG2	liver
45	chr11:34240800-34241000	Enhancers	Left Ventricle	heart
46	chr11:34240800-34241000	Enhancers	Psoas Muscle	Psoas
47	chr11:34241000-34241200	Enhancers	Placenta	Placenta
48	chr11:34241000-34241400	Weak transcription	Left Ventricle	heart
49	chr11:34241000-34241400	Weak transcription	Psoas Muscle	Psoas
50	chr11:34241000-34242000	Enhancers	Fetal Heart	heart

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