Variant report

Variant	nsv1058734
Chromosome Location	chr20:11389232-11479953
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: 3023 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:3023 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6033133	chr20:11389232-11389233	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181465414	chr20:11389287-11389288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73896387	chr20:11389374-11389375	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534943635	chr20:11389380-11389381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147166451	chr20:11389420-11389421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6134243	chr20:11389485-11389486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs369382989	chr20:11389492-11389493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542702989	chr20:11389511-11389512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562690178	chr20:11389519-11389520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576209533	chr20:11389587-11389588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545230292	chr20:11389599-11389600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140353167	chr20:11389605-11389606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372571721	chr20:11389618-11389619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527950003	chr20:11389655-11389656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548071617	chr20:11389662-11389663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560678762	chr20:11389686-11389687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529752344	chr20:11389774-11389775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186046733	chr20:11389796-11389797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144213973	chr20:11389797-11389798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538755650	chr20:11389806-11389807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552060750	chr20:11389859-11389860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190069069	chr20:11389871-11389872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534575994	chr20:11389880-11389881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182552894	chr20:11389994-11389995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6040637	chr20:11390013-11390014	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536276920	chr20:11390043-11390044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114210344	chr20:11390226-11390227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565431486	chr20:11390419-11390420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576093966	chr20:11390426-11390427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545119694	chr20:11390427-11390428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558837394	chr20:11390434-11390435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6040638	chr20:11390446-11390447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs187438802	chr20:11390473-11390474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150709258	chr20:11390478-11390479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs6108957	chr20:11390527-11390528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs6131204	chr20:11390541-11390542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531059512	chr20:11390547-11390548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191107488	chr20:11390548-11390549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6131205	chr20:11390549-11390550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544796060	chr20:11390553-11390554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563296605	chr20:11390574-11390575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34493029	chr20:11390583-11390584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532200899	chr20:11390692-11390693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552260388	chr20:11390748-11390749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6134244	chr20:11390757-11390758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373419449	chr20:11390764-11390765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1009748	chr20:11390766-11390767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs34620020	chr20:11390819-11390820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183696493	chr20:11390839-11390840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548168319	chr20:11390868-11390869	Weak transcription	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:689 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11380000-11394200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:11387800-11389600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr20:11388400-11389600	Enhancers	Osteobl	bone
4	chr20:11388600-11389400	Enhancers	HSMMtube	muscle
5	chr20:11389200-11389600	Enhancers	Fetal Kidney	kidney
6	chr20:11389200-11389800	Enhancers	Ovary	ovary
7	chr20:11389800-11390400	Weak transcription	Ovary	ovary
8	chr20:11390400-11390600	Enhancers	Ovary	ovary
9	chr20:11391800-11393200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr20:11392000-11392400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr20:11392000-11393000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr20:11392000-11393200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr20:11392200-11393000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr20:11392400-11393000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:11392400-11393200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr20:11394200-11394600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr20:11394600-11409800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr20:11399200-11400600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:11399600-11400400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr20:11402600-11406800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr20:11403800-11404000	Enhancers	Gastric	stomach
22	chr20:11406400-11408200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr20:11406400-11408200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr20:11406800-11408000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr20:11407200-11408000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr20:11407400-11407800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr20:11407600-11407800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr20:11407600-11408000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:11407600-11408000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr20:11407600-11408000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr20:11407600-11408000	Enhancers	Rectal Smooth Muscle	rectum
32	chr20:11407600-11408200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr20:11407800-11408000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr20:11407800-11408000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:11407800-11408000	Enhancers	HSMMtube	muscle
36	chr20:11408000-11409800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr20:11408000-11410000	Weak transcription	HSMMtube	muscle
38	chr20:11408000-11410600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr20:11408000-11410800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr20:11408000-11415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr20:11408200-11409000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr20:11408200-11410000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr20:11408200-11410800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr20:11409600-11409800	Enhancers	A549	lung
45	chr20:11409600-11410200	Enhancers	NHEK	skin
46	chr20:11409800-11410000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr20:11409800-11410000	Enhancers	Osteobl	bone
48	chr20:11409800-11410200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr20:11409800-11410200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr20:11409800-11410200	Flanking Active TSS	A549	lung

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