Variant report

Variant	nsv586283
Chromosome Location	chr20:53288595-53311415
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:94)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:94 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr20:46306630..46307190-chr20:53297136..53297960,2	MCF-7	breast:
2	chr20:53286235..53288199-chr20:53294534..53296674,2	MCF-7	breast:
3	chr20:53297137..53297884-chr3:62608070..62608680,2	MCF-7	breast:
4	chr20:53296558..53298632-chr3:64515452..64516902,29	MCF-7	breast:
5	chr20:53296962..53298212-chr3:62618518..62619402,4	MCF-7	breast:
6	chr17:62398179..62399057-chr20:53297171..53297878,3	MCF-7	breast:
7	chr20:52559737..52560546-chr20:53297221..53297991,3	MCF-7	breast:
8	chr20:53264760..53267099-chr20:53297639..53299981,2	MCF-7	breast:
9	chr20:53299050..53301843-chr3:64522868..64525026,2	MCF-7	breast:
10	chr1:61620670..61621170-chr20:53297146..53297782,3	MCF-7	breast:
11	chr16:70414219..70416297-chr20:53291360..53294038,2	MCF-7	breast:
12	chr17:46367902..46370246-chr20:53307724..53309375,2	MCF-7	breast:
13	chr20:52556178..52557055-chr20:53297089..53298051,7	MCF-7	breast:
14	chr20:53284827..53285806-chr20:53297032..53297616,3	MCF-7	breast:
15	chr20:53297030..53299399-chr3:64518913..64520051,28	MCF-7	breast:
16	chr12:78539699..78540376-chr20:53297270..53297982,2	MCF-7	breast:
17	chr20:53297063..53298490-chr3:64703588..64704964,7	MCF-7	breast:
18	chr20:53294274..53296254-chr20:53296968..53298496,2	MCF-7	breast:
19	chr20:52823364..52826013-chr20:53290303..53292148,2	MCF-7	breast:
20	chr17:62396854..62397477-chr20:53297283..53297991,2	MCF-7	breast:
21	chr20:53290085..53292614-chr20:53295758..53297521,2	MCF-7	breast:
22	chr20:53295710..53298032-chr3:64518048..64519638,2	MCF-7	breast:
23	chr20:53297100..53298020-chr20:54756384..54757317,8	MCF-7	breast:
24	chr1:109692092..109694035-chr20:53309033..53311303,2	MCF-7	breast:
25	chr18:38070773..38071274-chr20:53297047..53297663,2	MCF-7	breast:
26	chr20:53298027..53298984-chr20:54756236..54756891,2	MCF-7	breast:
27	chr20:52559479..52560840-chr20:53297067..53298188,6	MCF-7	breast:
28	chr20:53297141..53300024-chr20:53303959..53305467,2	MCF-7	breast:
29	chr20:53265389..53267623-chr20:53296471..53298044,17	MCF-7	breast:
30	chr20:53297044..53298391-chr20:53342876..53343999,9	MCF-7	breast:
31	chr20:53294274..53296254-chr20:53296968..53298496,2	MCF-7	breast:
32	chr20:53297041..53297657-chr3:64749770..64750566,3	MCF-7	breast:
33	chr20:52556090..52556889-chr20:53296922..53298074,4	MCF-7	breast:
34	chr20:53295264..53295940-chr20:55798792..55799578,2	MCF-7	breast:
35	chr1:114889055..114889767-chr20:53293774..53294462,2	MCF-7	breast:
36	chr20:53296916..53298758-chr3:64518136..64520683,88	MCF-7	breast:
37	chr20:53299871..53301622-chr20:53317484..53320161,2	MCF-7	breast:
38	chr17:75007000..75007794-chr20:53289529..53290339,2	MCF-7	breast:
39	chr20:53297176..53297814-chr3:62608129..62608650,2	MCF-7	breast:
40	chr20:53297077..53298037-chr3:64523265..64523990,2	MCF-7	breast:
41	chr20:53296551..53298207-chr20:53342710..53343895,13	MCF-7	breast:
42	chr17:59651969..59652895-chr20:53297083..53297793,2	MCF-7	breast:
43	chr20:53297756..53299793-chr20:53421394..53423179,2	MCF-7	breast:
44	chr20:53297039..53297648-chr3:64543662..64544449,2	MCF-7	breast:
45	chr2:47214206..47214770-chr20:53290236..53290902,2	MCF-7	breast:
46	chr20:53300267..53303161-chr20:53305385..53308089,2	MCF-7	breast:
47	chr20:53297395..53297944-chr3:64704219..64705110,2	MCF-7	breast:
48	chr2:180091649..180092168-chr20:53297444..53298069,2	MCF-7	breast:
49	chr20:53300267..53303161-chr20:53305385..53308089,2	MCF-7	breast:
50	chr20:53290085..53292614-chr20:53295758..53297521,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196562	chromatin interactions
ENSG00000163638	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000236352	chromatin interactions
ENSG00000255438	chromatin interactions

Extended variants
information (count: 832 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:832 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6068938	chr20:53288595-53288596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182092788	chr20:53288611-53288612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76233030	chr20:53288616-53288617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6068939	chr20:53288624-53288625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs150277359	chr20:53288638-53288639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553071301	chr20:53288657-53288658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372305756	chr20:53288661-53288662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538215686	chr20:53288663-53288664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117571863	chr20:53288683-53288684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544940656	chr20:53288693-53288694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558993588	chr20:53288738-53288739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578025429	chr20:53288773-53288774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575932054	chr20:53288826-53288827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544500093	chr20:53288830-53288831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376187959	chr20:53288851-53288852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540867876	chr20:53288882-53288883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34033061	chr20:53288951-53288952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62216273	chr20:53288988-53288989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74176330	chr20:53288990-53288991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113347618	chr20:53288998-53288999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371919558	chr20:53288999-53289000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11471643	chr20:53289001-53289002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542925905	chr20:53289008-53289009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202061292	chr20:53289013-53289014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185796729	chr20:53289042-53289043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560168235	chr20:53289043-53289044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189100866	chr20:53289114-53289115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530829252	chr20:53289116-53289117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552582091	chr20:53289150-53289151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111778703	chr20:53289186-53289187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180726301	chr20:53289200-53289201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550882274	chr20:53289225-53289226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567486407	chr20:53289237-53289238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138702073	chr20:53289243-53289244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546719736	chr20:53289271-53289272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73913655	chr20:53289326-53289327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs201168742	chr20:53289329-53289330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2870344	chr20:53289354-53289355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149360548	chr20:53289376-53289377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147481658	chr20:53289412-53289413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538179745	chr20:53289480-53289481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2870345	chr20:53289499-53289500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574696955	chr20:53289505-53289506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376150992	chr20:53289534-53289535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79238680	chr20:53289557-53289558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386815255	chr20:53289597-53289598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2870347	chr20:53289598-53289599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs117894113	chr20:53289614-53289615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562936676	chr20:53289615-53289616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368071284	chr20:53289626-53289627	Weak transcription	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
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53285600-53290000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr20:53290000-53290400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr20:53290200-53290600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:53290600-53296800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:53296800-53299600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:53297000-53298200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:53297000-53298200	Enhancers	Colon Smooth Muscle	Colon
8	chr20:53297000-53298600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr20:53297000-53299200	Enhancers	Brain Germinal Matrix	brain
10	chr20:53297200-53297400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr20:53297200-53297600	Enhancers	Liver	Liver
12	chr20:53297200-53297800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr20:53297200-53298200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr20:53297200-53298200	Enhancers	Rectal Smooth Muscle	rectum
15	chr20:53297200-53298600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr20:53297200-53298600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr20:53297200-53298800	Enhancers	Fetal Brain Female	brain
18	chr20:53297200-53299000	Enhancers	Stomach Smooth Muscle	stomach
19	chr20:53297200-53299600	Enhancers	Fetal Stomach	stomach
20	chr20:53297400-53297800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr20:53297400-53298200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr20:53297600-53297800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr20:53297600-53298400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr20:53297600-53298600	Enhancers	Adipose Nuclei	Adipose
25	chr20:53297600-53298800	Enhancers	Fetal Lung	lung
26	chr20:53297600-53299000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr20:53297600-53299200	Enhancers	Fetal Brain Male	brain
28	chr20:53297800-53298600	Enhancers	Fetal Muscle Leg	muscle
29	chr20:53298000-53298200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr20:53298000-53299000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr20:53298000-53299400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr20:53298400-53298600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr20:53298400-53298800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
34	chr20:53298400-53299000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr20:53298600-53298800	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr20:53299000-53299400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr20:53300600-53301000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr20:53301000-53301800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr20:53301800-53302000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:53302000-53305000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr20:53308200-53308800	Enhancers	Fetal Brain Male	brain
42	chr20:53308400-53308800	Enhancers	Pancreas	Pancrea
43	chr20:53308400-53309400	Enhancers	Fetal Brain Female	brain
44	chr20:53308800-53309400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr20:53308800-53309800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr20:53308800-53309800	Weak transcription	Pancreas	Pancrea
47	chr20:53308800-53310000	Enhancers	Brain Germinal Matrix	brain
48	chr20:53309000-53309800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr20:53309800-53310000	Enhancers	Pancreas	Pancrea

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