Variant report

Variant	nsv523995
Chromosome Location	chr11:105172049-105243371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:105182301..105184652-chr11:105187626..105190416,2	K562	blood:
2	chr11:105153100..105154691-chr11:105182202..105183896,2	MCF-7	breast:
3	chr11:105182301..105184652-chr11:105187626..105190416,2	K562	blood:
4	chr11:105173283..105175054-chr11:105186519..105189331,2	K562	blood:
5	chr11:105173283..105175054-chr11:105186519..105189331,2	K562	blood:
6	chr11:105000203..105002774-chr11:105190534..105192628,2	K562	blood:

Extended variants
information (count: 963 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:963 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10502056	chr11:105172049-105172050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531145511	chr11:105172085-105172086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547291876	chr11:105172097-105172098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568803305	chr11:105172102-105172103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529703190	chr11:105172122-105172123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372744069	chr11:105172131-105172132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537604918	chr11:105172136-105172137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147171070	chr11:105172152-105172153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12291502	chr11:105172210-105172211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140373022	chr11:105172246-105172247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79493334	chr11:105172262-105172263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566635058	chr11:105172290-105172291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376023574	chr11:105172291-105172292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573263580	chr11:105172292-105172293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558682373	chr11:105172336-105172337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144207773	chr11:105172358-105172359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76595657	chr11:105172372-105172373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552842512	chr11:105172385-105172386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11606834	chr11:105172387-105172388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs571100240	chr11:105172420-105172421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541775401	chr11:105172439-105172440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556945958	chr11:105172443-105172444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575660822	chr11:105172467-105172468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374902843	chr11:105172492-105172493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150708949	chr11:105172510-105172511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182124201	chr11:105172538-105172539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539067835	chr11:105172573-105172574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540869360	chr11:105172617-105172618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562363961	chr11:105172643-105172644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139220415	chr11:105172696-105172697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548166869	chr11:105172704-105172705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373628224	chr11:105172765-105172766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569564475	chr11:105172801-105172802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369294310	chr11:105172842-105172843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530557176	chr11:105172862-105172863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551972806	chr11:105172881-105172882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149955998	chr11:105172910-105172911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145015182	chr11:105172917-105172918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546394144	chr11:105172981-105172982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567974316	chr11:105173006-105173007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535377730	chr11:105173038-105173039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556909343	chr11:105173047-105173048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7116904	chr11:105173089-105173090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369282102	chr11:105173130-105173131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539853726	chr11:105173148-105173149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557961645	chr11:105173187-105173188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11600551	chr11:105186011-105186012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558445124	chr11:105186015-105186016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184373827	chr11:105186037-105186038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540634256	chr11:105186072-105186073	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105169600-105172400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:105172400-105173200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:105186000-105186200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr11:105196200-105196600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:105196600-105198800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:105197200-105200000	Enhancers	Fetal Intestine Small	intestine
7	chr11:105197600-105200200	Enhancers	Fetal Intestine Large	intestine
8	chr11:105198600-105199000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr11:105198800-105199200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:105199400-105200000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:105204600-105205000	Enhancers	Gastric	stomach
12	chr11:105204600-105205200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:105205000-105206200	Weak transcription	Gastric	stomach
14	chr11:105205200-105205600	Enhancers	Placenta	Placenta
15	chr11:105221200-105222000	Enhancers	Duodenum Mucosa	Duodenum
16	chr11:105221800-105222000	ZNF genes & repeats	Pancreas	Pancrea
17	chr11:105222000-105223400	Weak transcription	Pancreas	Pancrea
18	chr11:105223400-105223800	ZNF genes & repeats	Pancreas	Pancrea
19	chr11:105223800-105224200	Weak transcription	Pancreas	Pancrea
20	chr11:105227600-105228600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:105227600-105228600	Enhancers	HMEC	breast
22	chr11:105228000-105228600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:105228200-105228600	Enhancers	NHEK	skin
24	chr11:105228200-105228800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:105228200-105229000	Enhancers	Fetal Heart	heart
26	chr11:105228200-105229000	Enhancers	Fetal Intestine Large	intestine
27	chr11:105228400-105228600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:105228400-105228600	Enhancers	Pancreas	Pancrea
29	chr11:105228400-105228800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:105228400-105228800	Enhancers	Fetal Intestine Small	intestine
31	chr11:105228600-105232200	Weak transcription	HMEC	breast
32	chr11:105228600-105232200	Weak transcription	NHEK	skin
33	chr11:105228800-105232000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:105232000-105232600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:105232200-105232600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:105232200-105232600	Enhancers	HMEC	breast
37	chr11:105232200-105232600	Enhancers	NHEK	skin
38	chr11:105232600-105237600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:105232600-105242000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:105237600-105238000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:105238000-105242200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:105239400-105240000	Enhancers	Fetal Intestine Large	intestine
43	chr11:105239600-105239800	Bivalent Enhancer	Left Ventricle	heart
44	chr11:105242000-105243200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:105242000-105243400	Enhancers	NHEK	skin
46	chr11:105242200-105243200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links