Variant report

Variant	nsv1065957
Chromosome Location	chr20:52651963-52662562
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52655188..52657937-chr20:55839006..55840900,2	MCF-7	breast:
2	chr20:52643210..52646138-chr20:52658422..52660423,2	K562	blood:
3	chr19:11025812..11027987-chr20:52653374..52655752,2	MCF-7	breast:
4	chr17:56707748..56711068-chr20:52660176..52663748,3	MCF-7	breast:
5	chr20:52557746..52563146-chr20:52657006..52659772,4	MCF-7	breast:
6	chr17:57917278..57919596-chr20:52653625..52656516,2	MCF-7	breast:
7	chr1:121484253..121484817-chr20:52659977..52660776,2	MCF-7	breast:
8	chr20:52642833..52647245-chr20:52651317..52656592,5	MCF-7	breast:
9	chr20:52659902..52660887-chr20:52678920..52680381,7	MCF-7	breast:
10	chr20:52659945..52660854-chr20:52815931..52816527,2	MCF-7	breast:
11	chr20:52637408..52640155-chr20:52655059..52656752,2	MCF-7	breast:
12	chr20:52621471..52622138-chr20:52658585..52659278,2	MCF-7	breast:
13	chr17:56735097..56736691-chr20:52662317..52665029,2	MCF-7	breast:
14	chr20:52626505..52628533-chr20:52652801..52654568,2	MCF-7	breast:
15	chr20:52646106..52649105-chr20:52656818..52659729,2	MCF-7	breast:
16	chr20:52647368..52649299-chr20:52654193..52656329,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212195	chromatin interactions
ENSG00000064787	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000199004	chromatin interactions

Extended variants
information (count: 446 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532752569	chr20:52651988-52651989	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113413318	chr20:52652008-52652009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569673405	chr20:52652062-52652063	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535500737	chr20:52652072-52652073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555694413	chr20:52652075-52652076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190030581	chr20:52652082-52652083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535390016	chr20:52652110-52652111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs146994638	chr20:52652128-52652129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570096623	chr20:52652129-52652130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373305194	chr20:52652195-52652196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182502480	chr20:52652224-52652225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187204426	chr20:52652253-52652254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138202965	chr20:52652260-52652261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141803302	chr20:52652305-52652306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150084266	chr20:52652306-52652307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs572202727	chr20:52652332-52652333	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs6068757	chr20:52652342-52652343	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540962731	chr20:52652364-52652365	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs58051555	chr20:52652380-52652381	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6127067	chr20:52652392-52652393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374228350	chr20:52652406-52652407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6127068	chr20:52652410-52652411	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs146197441	chr20:52652424-52652425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs290460	chr20:52652430-52652431	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs142132173	chr20:52652518-52652519	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73622295	chr20:52652600-52652601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535213025	chr20:52652649-52652650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542087231	chr20:52652683-52652684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552127905	chr20:52652713-52652714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183521067	chr20:52652728-52652729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146378050	chr20:52652740-52652741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148579926	chr20:52652750-52652751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573929670	chr20:52652771-52652772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142992999	chr20:52652777-52652778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535200414	chr20:52652781-52652782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553421381	chr20:52652786-52652787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs151120674	chr20:52652848-52652849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs290461	chr20:52652855-52652856	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563905891	chr20:52652905-52652906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139668016	chr20:52652957-52652958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs78665849	chr20:52653033-52653034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs75374807	chr20:52653099-52653100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370913591	chr20:52653128-52653129	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs575031561	chr20:52653174-52653175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs528875613	chr20:52653178-52653179	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372825657	chr20:52653195-52653196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144627326	chr20:52653248-52653249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559375104	chr20:52653294-52653295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2021818	chr20:52653325-52653326	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs188763229	chr20:52653327-52653328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52641600-52676400	Weak transcription	Stomach Mucosa	stomach
2	chr20:52644800-52666400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr20:52645200-52682200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr20:52646000-52657000	Weak transcription	Gastric	stomach
5	chr20:52646000-52666600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr20:52654800-52656400	Enhancers	K562	blood
7	chr20:52655200-52656400	Enhancers	Fetal Kidney	kidney
8	chr20:52655200-52657200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr20:52655200-52658200	Enhancers	Fetal Stomach	stomach
10	chr20:52656400-52656800	Weak transcription	Fetal Kidney	kidney
11	chr20:52656400-52656800	Weak transcription	K562	blood
12	chr20:52656800-52657200	Enhancers	Colon Smooth Muscle	Colon
13	chr20:52656800-52657400	Enhancers	Fetal Kidney	kidney
14	chr20:52656800-52657400	Enhancers	K562	blood
15	chr20:52657000-52657400	Enhancers	Gastric	stomach
16	chr20:52657000-52657800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:52657000-52657800	Enhancers	HSMMtube	muscle
18	chr20:52657200-52657600	Enhancers	NHDF-Ad	bronchial
19	chr20:52657400-52658600	Weak transcription	K562	blood
20	chr20:52657600-52659400	Weak transcription	NHDF-Ad	bronchial
21	chr20:52657800-52659600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr20:52657800-52664800	Weak transcription	HSMMtube	muscle
23	chr20:52658200-52659400	Weak transcription	Fetal Stomach	stomach
24	chr20:52658600-52660000	Enhancers	K562	blood
25	chr20:52659400-52660400	Enhancers	Fetal Stomach	stomach
26	chr20:52659400-52661000	Enhancers	NHDF-Ad	bronchial
27	chr20:52659600-52659800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr20:52659600-52660600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:52659600-52661000	Enhancers	GM12878-XiMat	blood
30	chr20:52659600-52661800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr20:52659800-52660600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr20:52660000-52660400	Enhancers	Fetal Brain Male	brain
33	chr20:52660000-52660600	Enhancers	Fetal Lung	lung
34	chr20:52660000-52660800	Flanking Active TSS	K562	blood
35	chr20:52660000-52661000	Enhancers	NHLF	lung
36	chr20:52660000-52661200	Enhancers	Osteobl	bone
37	chr20:52660200-52660400	Enhancers	Right Atrium	heart
38	chr20:52660200-52660600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr20:52660200-52661600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr20:52660200-52661600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr20:52660400-52661000	Enhancers	HMEC	breast
42	chr20:52660400-52664200	Weak transcription	Right Atrium	heart
43	chr20:52660600-52660800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr20:52660800-52661600	Enhancers	K562	blood
45	chr20:52661000-52661400	Weak transcription	NHDF-Ad	bronchial
46	chr20:52661000-52661400	Weak transcription	NHLF	lung
47	chr20:52661200-52665000	Weak transcription	Osteobl	bone
48	chr20:52661400-52661600	Enhancers	NHDF-Ad	bronchial
49	chr20:52661400-52661600	Enhancers	NHLF	lung
50	chr20:52661600-52664800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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