Variant report

Variant	nsv833927
Chromosome Location	chr20:15362602-15520185
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:15474862..15477622-chr20:15478016..15479786,2	MCF-7	breast:
2	chr20:15468580..15470107-chr20:15474953..15477651,2	MCF-7	breast:
3	chr20:15471920..15472855-chr20:15634516..15635330,3	MCF-7	breast:
4	chr20:15474862..15477622-chr20:15478016..15479786,2	MCF-7	breast:
5	chr20:15420870..15421552-chr20:15477062..15477568,2	MCF-7	breast:
6	chr20:15472191..15472832-chr20:15689360..15689915,3	MCF-7	breast:
7	chr20:15400360..15402078-chr20:15403721..15405394,2	K562	blood:
8	chr15:79167275..79169229-chr20:15379751..15381953,2	MCF-7	breast:
9	chr20:15400360..15402078-chr20:15403721..15405394,2	K562	blood:
10	chr20:15421139..15421682-chr20:16522882..16523464,2	MCF-7	breast:
11	chr20:15467907..15471393-chr20:15474157..15477058,3	MCF-7	breast:
12	chr20:15468580..15470107-chr20:15474953..15477651,2	MCF-7	breast:
13	chr20:15467907..15471393-chr20:15474157..15477058,3	MCF-7	breast:
14	chr1:153462091..153462609-chr20:15426696..15427544,2	MCF-7	breast:
15	chr20:15420870..15421552-chr20:15477062..15477568,2	MCF-7	breast:
16	chr20:15430826..15432876-chr20:15434681..15437679,2	MCF-7	breast:
17	chr20:15430826..15432876-chr20:15434681..15437679,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185787	chromatin interactions

Extended variants
information (count: 4146 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:4146 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139653318	chr20:15362619-15362620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555574547	chr20:15362692-15362693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573834596	chr20:15362693-15362694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534684009	chr20:15362703-15362704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6105403	chr20:15362766-15362767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552979957	chr20:15362781-15362782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6110585	chr20:15362813-15362814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186661199	chr20:15362824-15362825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545395867	chr20:15362828-15362829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563865509	chr20:15362850-15362851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6110586	chr20:15362884-15362885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13043204	chr20:15362887-15362888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs6105404	chr20:15362927-15362928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs6110587	chr20:15363005-15363006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561758272	chr20:15363018-15363019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528453764	chr20:15363046-15363047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540998235	chr20:15363053-15363054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559405606	chr20:15363100-15363101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192632606	chr20:15363101-15363102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2876404	chr20:15363130-15363131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552624191	chr20:15363174-15363175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60632343	chr20:15363197-15363198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145321531	chr20:15363255-15363256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531524700	chr20:15363277-15363278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548415012	chr20:15363283-15363284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530607435	chr20:15363332-15363333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184836946	chr20:15363356-15363357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11477962	chr20:15363357-15363358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150997594	chr20:15363362-15363363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548092489	chr20:15363409-15363410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116533384	chr20:15363418-15363419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59997671	chr20:15363450-15363451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190429214	chr20:15363466-15363467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539274415	chr20:15363486-15363487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6074885	chr20:15363504-15363505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575934341	chr20:15363525-15363526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6043244	chr20:15363554-15363555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs6043245	chr20:15363560-15363561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6135402	chr20:15363603-15363604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541137010	chr20:15363630-15363631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368761713	chr20:15363647-15363648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372127698	chr20:15363652-15363653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559342499	chr20:15363682-15363683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539092369	chr20:15363688-15363689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532785735	chr20:15363691-15363692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545027703	chr20:15363695-15363696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78663263	chr20:15363696-15363697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530864504	chr20:15363707-15363708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192888853	chr20:15363708-15363709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567142867	chr20:15363713-15363714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	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
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15354000-15376400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:15367200-15368200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr20:15367400-15368000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr20:15375200-15375600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr20:15375400-15376800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr20:15375600-15376400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr20:15375600-15380200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr20:15376400-15376600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr20:15376400-15376800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr20:15376400-15376800	Enhancers	Fetal Kidney	kidney
11	chr20:15376400-15380000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:15376600-15377600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr20:15376600-15378200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:15376800-15377200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr20:15376800-15377200	Weak transcription	Fetal Kidney	kidney
16	chr20:15376800-15379000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr20:15377200-15377600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr20:15377200-15377800	Enhancers	Fetal Kidney	kidney
19	chr20:15377400-15377800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr20:15377400-15377800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:15377400-15377800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr20:15377400-15378000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr20:15377400-15378200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr20:15377400-15378200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr20:15377600-15378000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr20:15377600-15378200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr20:15377800-15379600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr20:15378200-15379600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr20:15378200-15379600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr20:15378200-15380400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr20:15379000-15381600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr20:15379600-15379800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr20:15379600-15381400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr20:15379600-15381600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr20:15379800-15380400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr20:15379800-15380400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr20:15380000-15381000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr20:15380200-15381200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr20:15380400-15380600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr20:15380400-15381200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr20:15380600-15381000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr20:15381000-15381400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr20:15382800-15383400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr20:15386400-15387000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr20:15388800-15389600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr20:15391200-15391600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr20:15392400-15393000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr20:15392400-15393400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr20:15394000-15395000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr20:15394200-15394600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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