Variant report

Variant	nsv520595
Chromosome Location	chr20:13421045-13447896
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:13423475..13426076-chr20:13427990..13429663,2	K562	blood:
2	chr20:13442182..13443887-chr20:13469924..13472728,2	MCF-7	breast:
3	chr20:13439454..13440147-chr20:13526949..13528062,4	MCF-7	breast:
4	chr20:13439318..13440167-chr20:13526983..13527752,3	MCF-7	breast:
5	chr20:13305771..13306616-chr20:13439402..13440096,2	K562	blood:
6	chr20:13404043..13405936-chr20:13426667..13428716,2	MCF-7	breast:
7	chr20:13404319..13406427-chr20:13433826..13436433,2	K562	blood:
8	chr20:13439332..13440129-chr20:13526875..13527507,2	K562	blood:
9	chr20:13439916..13441792-chr20:16089187..16092012,2	K562	blood:
10	chr20:13408378..13410884-chr20:13417652..13421238,3	MCF-7	breast:
11	chr20:13423475..13426076-chr20:13427990..13429663,2	K562	blood:

No data

Extended variants
information (count: 911 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:911 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2103987	chr20:13421045-13421046	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575159849	chr20:13421059-13421060	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs149692390	chr20:13421095-13421096	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs78522257	chr20:13421127-13421128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs6042106	chr20:13421160-13421161	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73078057	chr20:13421187-13421188	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559530790	chr20:13421223-13421224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs150181951	chr20:13421224-13421225	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs373750903	chr20:13421226-13421227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs367652002	chr20:13421229-13421230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs73266854	chr20:13421236-13421237	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184956725	chr20:13421240-13421241	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs561650049	chr20:13421251-13421252	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs530674719	chr20:13421282-13421283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs34830955	chr20:13421328-13421329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75777247	chr20:13421339-13421340	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs397864531	chr20:13421340-13421341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs141214026	chr20:13421376-13421377	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs76308837	chr20:13421397-13421398	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs570349592	chr20:13421401-13421402	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs533076015	chr20:13421409-13421410	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190941243	chr20:13421430-13421431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs117557511	chr20:13421442-13421443	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75406648	chr20:13421478-13421479	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs145535071	chr20:13421489-13421490	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs183100776	chr20:13421571-13421572	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537733940	chr20:13421584-13421585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs375137286	chr20:13421642-13421643	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs552472861	chr20:13421682-13421683	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77576015	chr20:13421732-13421733	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546141086	chr20:13421749-13421750	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs148432384	chr20:13421752-13421753	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs572952975	chr20:13421760-13421761	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs368692365	chr20:13421813-13421814	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs6042107	chr20:13421912-13421913	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561534832	chr20:13421927-13421928	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs575192556	chr20:13421933-13421934	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs73901164	chr20:13421994-13421995	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs35314093	chr20:13422030-13422031	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs369004689	chr20:13422054-13422055	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs564144276	chr20:13422106-13422107	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs185891152	chr20:13422140-13422141	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs142380115	chr20:13422158-13422159	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs546549054	chr20:13422171-13422172	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs372344097	chr20:13422191-13422192	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs6042108	chr20:13422203-13422204	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369846430	chr20:13422243-13422244	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79705700	chr20:13422244-13422245	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs548842223	chr20:13422279-13422280	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs7362521	chr20:13422286-13422287	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13379200-13463000	Weak transcription	HSMM	muscle
2	chr20:13392600-13421400	Weak transcription	Psoas Muscle	Psoas
3	chr20:13395600-13477800	Weak transcription	Gastric	stomach
4	chr20:13397400-13421200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr20:13399800-13430800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr20:13403800-13435000	Weak transcription	HMEC	breast
7	chr20:13404400-13434800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:13404400-13434800	Weak transcription	NHEK	skin
9	chr20:13410000-13421600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr20:13411400-13435000	Weak transcription	Lung	lung
11	chr20:13411600-13421400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr20:13412600-13421800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr20:13412600-13424200	Weak transcription	HepG2	liver
14	chr20:13413600-13433400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr20:13415200-13428000	Weak transcription	Thymus	Thymus
16	chr20:13415400-13435000	Weak transcription	Placenta	Placenta
17	chr20:13415600-13433600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr20:13416000-13438200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr20:13416200-13435000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr20:13416200-13436600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr20:13416400-13434600	Weak transcription	Fetal Thymus	thymus
22	chr20:13417400-13423600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr20:13420600-13421800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr20:13420600-13423000	ZNF genes & repeats	Dnd41	blood
25	chr20:13420800-13422000	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr20:13420800-13444400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr20:13421000-13421400	Weak transcription	Aorta	Aorta
28	chr20:13421000-13422400	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr20:13421400-13421800	ZNF genes & repeats	Psoas Muscle	Psoas
30	chr20:13421600-13421800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr20:13421600-13422400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr20:13421800-13422000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr20:13421800-13432800	Weak transcription	Psoas Muscle	Psoas
34	chr20:13421800-13436600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr20:13421800-13450000	Weak transcription	Fetal Lung	lung
36	chr20:13422000-13422400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr20:13422000-13422600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr20:13422000-13423200	Enhancers	K562	blood
39	chr20:13422000-13460400	Weak transcription	Primary B cells from cord blood	blood
40	chr20:13422000-13461200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr20:13422200-13422400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr20:13422200-13435000	Weak transcription	Aorta	Aorta
43	chr20:13422400-13422600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr20:13422400-13432000	Weak transcription	Primary T cells from cord blood	blood
45	chr20:13422400-13435200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr20:13422600-13431000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr20:13423000-13423200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr20:13423000-13428200	Strong transcription	Dnd41	blood
49	chr20:13423200-13433800	Weak transcription	K562	blood
50	chr20:13423600-13423800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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