Variant report

Variant	nsv1065268
Chromosome Location	chr20:41236087-41260749
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:41238748..41239268-chr20:41307296..41307807,2	MCF-7	breast:
2	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
3	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
4	chr1:115299122..115302084-chr20:41239351..41241193,2	MCF-7	breast:
5	chr1:115299061..115301144-chr20:41248782..41252439,3	MCF-7	breast:
6	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRSF6-11	chr20:41236034-41236199	NONHSAT079803

No data

Variant related genes	Relation type
ENSG00000009307	chromatin interactions

Extended variants
information (count: 916 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:916 , 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	rs140839027	chr20:41236087-41236088	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs370661973	chr20:41236105-41236106	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs115441774	chr20:41236123-41236124	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs375648575	chr20:41236149-41236150	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs187509282	chr20:41236161-41236162	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs190750133	chr20:41236169-41236170	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs538636861	chr20:41236183-41236184	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs183317500	chr20:41236201-41236202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572129058	chr20:41236265-41236266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115986143	chr20:41236266-41236267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3210006	chr20:41236273-41236274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75643234	chr20:41236375-41236376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574692275	chr20:41236396-41236397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188836225	chr20:41236397-41236398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543384472	chr20:41236403-41236404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563573769	chr20:41236404-41236405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531638915	chr20:41236411-41236412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6030362	chr20:41236423-41236424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371649362	chr20:41236431-41236432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544990165	chr20:41236440-41236441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115440793	chr20:41236441-41236442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527753301	chr20:41236444-41236445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570612667	chr20:41236457-41236458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534918002	chr20:41236482-41236483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192613389	chr20:41236483-41236484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs36042580	chr20:41236486-41236487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567800110	chr20:41236563-41236564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375926429	chr20:41236569-41236570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553037939	chr20:41236593-41236594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76659717	chr20:41236624-41236625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574563491	chr20:41236631-41236632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570321401	chr20:41236658-41236659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538649024	chr20:41236714-41236715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558539974	chr20:41236756-41236757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182583804	chr20:41236762-41236763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188096093	chr20:41236810-41236811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6030363	chr20:41236820-41236821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs4611702	chr20:41236837-41236838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs1555162	chr20:41236860-41236861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557012898	chr20:41236865-41236866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144698072	chr20:41236897-41236898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369708801	chr20:41236940-41236941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545024896	chr20:41236948-41236949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564904756	chr20:41236994-41236995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147885246	chr20:41236995-41236996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191636242	chr20:41237009-41237010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561430697	chr20:41237026-41237027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530272781	chr20:41237061-41237062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550308861	chr20:41237078-41237079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563974116	chr20:41237092-41237093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	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
Soft tissue tumor	16732325	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
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41219200-41240200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41236000-41236600	Enhancers	NHEK	skin
3	chr20:41240000-41241600	Enhancers	Fetal Brain Male	brain
4	chr20:41240000-41242800	Enhancers	Fetal Muscle Leg	muscle
5	chr20:41240200-41240400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:41240200-41240800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr20:41240400-41240600	Bivalent Enhancer	Fetal Brain Female	brain
8	chr20:41240400-41240800	Enhancers	Fetal Muscle Trunk	muscle
9	chr20:41240400-41241400	Enhancers	Fetal Stomach	stomach
10	chr20:41240600-41242200	Enhancers	Fetal Brain Female	brain
11	chr20:41241000-41242200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr20:41241800-41242400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr20:41242800-41243000	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr20:41249200-41249600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr20:41249200-41249600	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr20:41249200-41249800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr20:41249200-41249800	Active TSS	Duodenum Mucosa	Duodenum
18	chr20:41251400-41252000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr20:41251400-41253800	Enhancers	NHEK	skin
20	chr20:41251600-41253600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr20:41251800-41252400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr20:41251800-41252600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr20:41253600-41270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr20:41257000-41258200	Enhancers	Liver	Liver

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