Variant report

Variant	nsv527610
Chromosome Location	chr20:52980099-52984431
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:49347583..49351619-chr20:52982625..52987672,5	MCF-7	breast:
2	chr20:52977120..52978918-chr20:52982695..52985421,2	MCF-7	breast:
3	chr20:52979804..52981716-chr20:52983200..52985662,2	MCF-7	breast:
4	chr20:52981982..52984941-chr20:53255246..53257720,2	MCF-7	breast:
5	chr20:52979804..52981716-chr20:52983200..52985662,2	MCF-7	breast:
6	chr17:57921876..57923469-chr20:52978562..52980794,2	MCF-7	breast:
7	chr20:52982179..52987061-chr20:52989270..52993345,5	MCF-7	breast:
8	chr20:52982598..52985363-chr20:52985830..52988598,3	MCF-7	breast:
9	chr20:52976917..52979046-chr20:52979757..52981463,2	MCF-7	breast:
10	chr20:52983415..52985850-chr6:27858765..27861037,2	MCF-7	breast:
11	chr20:42839047..42839970-chr20:52982175..52983148,2	MCF-7	breast:
12	chr20:49347789..49349298-chr20:52984375..52987184,2	MCF-7	breast:
13	chr20:52979917..52982366-chr20:52988469..52990410,2	MCF-7	breast:
14	chr20:52983863..52986994-chr20:52995623..52998239,3	MCF-7	breast:
15	chr2:75348194..75350018-chr20:52980164..52981715,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197153	chromatin interactions
ENSG00000132823	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000223891	chromatin interactions
ENSG00000233224	chromatin interactions

Extended variants
information (count: 174 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6097942	chr20:52980099-52980100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552283409	chr20:52980184-52980185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546769886	chr20:52980185-52980186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566760069	chr20:52980186-52980187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570862795	chr20:52980187-52980188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558673693	chr20:52980189-52980190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138497823	chr20:52980228-52980229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527795818	chr20:52980259-52980260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537859349	chr20:52980357-52980358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193015003	chr20:52980362-52980363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573872453	chr20:52980366-52980367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144094236	chr20:52980401-52980402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146373709	chr20:52980428-52980429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553185609	chr20:52980441-52980442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573113848	chr20:52980449-52980450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6097943	chr20:52980461-52980462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6064070	chr20:52980474-52980475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184500709	chr20:52980523-52980524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564841803	chr20:52980534-52980535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530493599	chr20:52980541-52980542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543888950	chr20:52980550-52980551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561738449	chr20:52980568-52980569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530314678	chr20:52980569-52980570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189285103	chr20:52980577-52980578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530409033	chr20:52980608-52980609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147336803	chr20:52980624-52980625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115231735	chr20:52980626-52980627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148799977	chr20:52980639-52980640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386815225	chr20:52980653-52980654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181983412	chr20:52980654-52980655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554642797	chr20:52980662-52980663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114495734	chr20:52980691-52980692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536539061	chr20:52980695-52980696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553348937	chr20:52980730-52980731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1841860	chr20:52980784-52980785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142258238	chr20:52980787-52980788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs793033	chr20:52980806-52980807	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs117713386	chr20:52980855-52980856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544330259	chr20:52980887-52980888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560713726	chr20:52981063-52981064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529687893	chr20:52981080-52981081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550325804	chr20:52981083-52981084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372636994	chr20:52981084-52981085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150828452	chr20:52981106-52981107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372514554	chr20:52981121-52981122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560422759	chr20:52981168-52981169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532533636	chr20:52981172-52981173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183542951	chr20:52981233-52981234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568588343	chr20:52981278-52981279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189337605	chr20:52981292-52981293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	20729466	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myelodysplastic syndrome	21251322	CNVD
Ductal carcinoma	22052326	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Ovarian cancer	22174824	CNVD
Lung cancer	16740712	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16620391	CNVD
Okamoto syndrome	17623483	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cervical cancer	16585170	CNVD
Ovarian cancer	20844748	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20459607	CNVD
Gastric cancer	18160780	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52976600-52983400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr20:52976600-52985200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr20:52977600-52985200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr20:52977800-52985200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr20:52979200-52984800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr20:52979800-52984600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr20:52980600-52982000	Enhancers	Liver	Liver
8	chr20:52983400-52983600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr20:52983400-52983800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:52983400-52986200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr20:52983600-52984200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr20:52983800-52985200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:52984200-52985000	Enhancers	H9 Cell Line	embryonic stem cell

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