Variant report

Variant	nsv522929
Chromosome Location	chr20:11411026-11516418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:11408827..11411317-chr20:11413467..11415014,2	MCF-7	breast:
2	chr20:11421691..11422663-chr3:162694553..162695419,2	MCF-7	breast:
3	chr20:11408827..11411317-chr20:11413467..11415014,2	MCF-7	breast:

Extended variants
information (count: 3604 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:3604 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12625750	chr20:11411026-11411027	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371753077	chr20:11411043-11411044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552989963	chr20:11411061-11411062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2876227	chr20:11411095-11411096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs742827	chr20:11411137-11411138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377611386	chr20:11411237-11411238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558604997	chr20:11411310-11411311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560937775	chr20:11411315-11411316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529993049	chr20:11411334-11411335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186567498	chr20:11411350-11411351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs742826	chr20:11411351-11411352	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190854474	chr20:11411447-11411448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370809458	chr20:11411484-11411485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551377178	chr20:11411493-11411494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373713015	chr20:11411494-11411495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs742825	chr20:11411530-11411531	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534036860	chr20:11411547-11411548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368166481	chr20:11411559-11411560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554333691	chr20:11411570-11411571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371359497	chr20:11411571-11411572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112865206	chr20:11411586-11411587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574197889	chr20:11411599-11411600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182998550	chr20:11411615-11411616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188691297	chr20:11411638-11411639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143179610	chr20:11411711-11411712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544990505	chr20:11411747-11411748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148258575	chr20:11411759-11411760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566432495	chr20:11411840-11411841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111515455	chr20:11411845-11411846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572133040	chr20:11411847-11411848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79109637	chr20:11411859-11411860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561135637	chr20:11411866-11411867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142805800	chr20:11411890-11411891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193300180	chr20:11411916-11411917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142792883	chr20:11411944-11411945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563208737	chr20:11411945-11411946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201604539	chr20:11411946-11411947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199731785	chr20:11411948-11411949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532295801	chr20:11411956-11411957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551321790	chr20:11411959-11411960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571347397	chr20:11411972-11411973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4270409	chr20:11411989-11411990	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547601703	chr20:11411996-11411997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567830275	chr20:11412008-11412009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6040669	chr20:11412024-11412025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs184503411	chr20:11412035-11412036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570318975	chr20:11412069-11412070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539352724	chr20:11412074-11412075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535143074	chr20:11412078-11412079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187546856	chr20:11412080-11412081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21804112	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11408000-11415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr20:11409800-11411200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr20:11409800-11411400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr20:11409800-11411400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:11410200-11411600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr20:11410200-11413000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:11410200-11413000	Weak transcription	HMEC	breast
8	chr20:11410200-11413000	Weak transcription	NHEK	skin
9	chr20:11410400-11411200	Enhancers	Brain Germinal Matrix	brain
10	chr20:11410400-11413000	Weak transcription	A549	lung
11	chr20:11410600-11411400	Enhancers	Fetal Muscle Leg	muscle
12	chr20:11410600-11411800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr20:11410600-11413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:11410800-11411400	Enhancers	Psoas Muscle	Psoas
15	chr20:11410800-11411600	Enhancers	Fetal Kidney	kidney
16	chr20:11410800-11412600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr20:11411000-11412000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:11411400-11411800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr20:11411400-11412000	Weak transcription	Osteobl	bone
20	chr20:11411400-11414200	Weak transcription	Psoas Muscle	Psoas
21	chr20:11411600-11413600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr20:11411800-11412000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr20:11411800-11415600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr20:11412000-11413400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr20:11412000-11413600	Enhancers	Osteobl	bone
26	chr20:11412000-11416400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:11412200-11412800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr20:11412600-11414000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr20:11413000-11413400	Enhancers	A549	lung
30	chr20:11413000-11413600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr20:11413000-11413600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr20:11413000-11413600	Enhancers	HMEC	breast
33	chr20:11413000-11414000	Enhancers	NHEK	skin
34	chr20:11413000-11414200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr20:11413400-11415200	Weak transcription	A549	lung
36	chr20:11413600-11415600	Weak transcription	HMEC	breast
37	chr20:11413600-11416400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr20:11414000-11416200	Weak transcription	NHEK	skin
39	chr20:11414200-11414800	Enhancers	Psoas Muscle	Psoas
40	chr20:11414200-11416800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr20:11415000-11415600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr20:11415000-11416200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr20:11415200-11415600	ZNF genes & repeats	A549	lung
44	chr20:11415600-11416000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr20:11415600-11416400	Weak transcription	A549	lung
46	chr20:11416000-11423800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr20:11416200-11416800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr20:11416400-11416800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
49	chr20:11416400-11417000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr20:11416400-11417000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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