Variant report

Variant	nsv1061449
Chromosome Location	chr20:41126720-41212178
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
2	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
3	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
4	chr1:115299973..115301920-chr20:41130457..41133153,2	MCF-7	breast:
5	chr20:40367029..40367531-chr20:41159523..41160164,2	MCF-7	breast:
6	chr20:41161976..41163501-chr20:41178008..41179846,2	MCF-7	breast:
7	chr20:41148020..41150135-chr20:41153331..41155714,2	K562	blood:
8	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
9	chr20:41186370..41189085-chr20:41189896..41191987,2	MCF-7	breast:
10	chr20:41112093..41113034-chr20:41158800..41160071,4	MCF-7	breast:
11	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
12	chr20:41148020..41150135-chr20:41153331..41155714,2	K562	blood:
13	chr20:41123580..41125405-chr20:41126881..41128837,2	K562	blood:
14	chr1:115211782..115214223-chr20:41134419..41137022,2	MCF-7	breast:
15	chr1:115299136..115301683-chr20:41145782..41147834,2	MCF-7	breast:
16	chr20:41169178..41171278-chr20:41173910..41175582,2	MCF-7	breast:
17	chr1:115322010..115324923-chr20:41157640..41159690,2	MCF-7	breast:
18	chr20:41111361..41112918-chr20:41159329..41160293,5	MCF-7	breast:
19	chr20:41169178..41171278-chr20:41173910..41175582,2	MCF-7	breast:
20	chr20:41154320..41156959-chr20:41167704..41169513,2	K562	blood:
21	chr20:41190947..41193604-chr20:41196031..41197655,2	MCF-7	breast:
22	chr20:41161976..41163501-chr20:41178008..41179846,2	MCF-7	breast:
23	chr20:41156659..41159808-chr20:41161331..41164447,3	MCF-7	breast:
24	chr20:41156659..41159808-chr20:41161331..41164447,3	MCF-7	breast:
25	chr20:41210269..41211939-chr20:41214857..41217644,2	MCF-7	breast:
26	chr20:41150606..41154856-chr20:41155913..41160974,4	MCF-7	breast:
27	chr20:41189320..41191294-chr20:41193549..41196029,2	MCF-7	breast:
28	chr20:41153100..41156959-chr20:41167478..41169513,3	K562	blood:
29	chr20:41153100..41156959-chr20:41167478..41169513,3	K562	blood:
30	chr20:41183351..41185462-chr20:41211169..41213368,2	MCF-7	breast:
31	chr20:41158587..41161005-chr20:41184135..41185897,2	MCF-7	breast:
32	chr20:40832621..40833511-chr20:41158812..41160167,5	MCF-7	breast:
33	chr20:41183922..41185722-chr20:41188691..41191209,2	K562	blood:
34	chr1:115223230..115223759-chr20:41159215..41160064,2	MCF-7	breast:
35	chr20:40656318..40657155-chr20:41159287..41160221,3	MCF-7	breast:
36	chr20:41158587..41161005-chr20:41184135..41185897,2	MCF-7	breast:
37	chr1:115342936..115345601-chr20:41151538..41153533,2	MCF-7	breast:
38	chr20:41150606..41154856-chr20:41155913..41160974,4	MCF-7	breast:
39	chr20:41154320..41156959-chr20:41167704..41169513,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000052723	chromatin interactions
ENSG00000175984	chromatin interactions
ENSG00000009307	chromatin interactions

Extended variants
information (count: 2462 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2462 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189431603	chr20:41130467-41130468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs140143309	chr20:41130505-41130506	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6030289	chr20:41130570-41130571	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535098392	chr20:41130575-41130576	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533879600	chr20:41130646-41130647	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78202655	chr20:41130661-41130662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34461024	chr20:41130758-41130759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143884830	chr20:41130768-41130769	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368347079	chr20:41130774-41130775	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568633189	chr20:41130776-41130777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558306138	chr20:41130796-41130797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs146361130	chr20:41130806-41130807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531673958	chr20:41130807-41130808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs191434264	chr20:41130826-41130827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577575845	chr20:41130871-41130872	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546540103	chr20:41130883-41130884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369370043	chr20:41130884-41130885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs183914932	chr20:41131007-41131008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs13037132	chr20:41131018-41131019	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536042872	chr20:41131023-41131024	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs13040903	chr20:41131038-41131039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs13042646	chr20:41131040-41131041	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375353578	chr20:41131046-41131047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11467404	chr20:41131079-41131080	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs56926659	chr20:41131081-41131082	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs398035745	chr20:41131087-41131088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs3061982	chr20:41131088-41131089	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs118132827	chr20:41131132-41131133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561680178	chr20:41131194-41131195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188664760	chr20:41131195-41131196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs116841841	chr20:41131207-41131208	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs181446952	chr20:41131230-41131231	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533030931	chr20:41131336-41131337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546609816	chr20:41131430-41131431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs533590463	chr20:41131440-41131441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375266487	chr20:41131445-41131446	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367957870	chr20:41131455-41131456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566052115	chr20:41131463-41131464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs73618851	chr20:41131476-41131477	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372185370	chr20:41131631-41131632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs548563576	chr20:41131651-41131652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs568420264	chr20:41131663-41131664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143745870	chr20:41131667-41131668	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs187040277	chr20:41131682-41131683	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73273369	chr20:41131698-41131699	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190234306	chr20:41131713-41131714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147214632	chr20:41131718-41131719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7273823	chr20:41131797-41131798	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs386814264	chr20:41131819-41131820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113055839	chr20:41131820-41131821	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
early-passage human iPS cells	21368824	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41158800-41161000	Enhancers	Fetal Brain Male	brain
2	chr20:41158800-41161200	Enhancers	Fetal Brain Female	brain
3	chr20:41159000-41161000	Enhancers	Pancreas	Pancrea
4	chr20:41159000-41161200	Enhancers	Brain Germinal Matrix	brain
5	chr20:41159200-41160000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr20:41159200-41160800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr20:41159200-41161000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr20:41159200-41161000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr20:41159200-41161200	Enhancers	Adipose Nuclei	Adipose
10	chr20:41159400-41160400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr20:41159400-41160800	Enhancers	Brain Hippocampus Middle	brain
12	chr20:41159400-41161000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr20:41159400-41161000	Enhancers	Fetal Muscle Leg	muscle
14	chr20:41159400-41161000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr20:41159800-41160800	Enhancers	Colon Smooth Muscle	Colon
16	chr20:41159800-41161000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr20:41160000-41160200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr20:41160000-41160800	Enhancers	Brain Cingulate Gyrus	brain
19	chr20:41160000-41160800	Enhancers	Fetal Muscle Trunk	muscle
20	chr20:41160000-41160800	Enhancers	Placenta	Placenta
21	chr20:41160000-41161000	Enhancers	GM12878-XiMat	blood
22	chr20:41160200-41160400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr20:41160200-41161000	Enhancers	Brain Anterior Caudate	brain
24	chr20:41160200-41161000	Enhancers	Fetal Thymus	thymus
25	chr20:41160400-41160600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr20:41160400-41160800	Enhancers	Brain Substantia Nigra	brain
27	chr20:41160600-41161200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr20:41160800-41173000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr20:41161000-41163000	Weak transcription	Pancreas	Pancrea
30	chr20:41163600-41164000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr20:41173000-41174200	Enhancers	Pancreas	Pancrea
32	chr20:41173000-41174400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr20:41173600-41174200	Enhancers	Gastric	stomach
34	chr20:41174200-41178000	Weak transcription	Pancreas	Pancrea
35	chr20:41178200-41178400	Enhancers	Brain Germinal Matrix	brain
36	chr20:41178200-41179000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:41178400-41179200	Weak transcription	Brain Germinal Matrix	brain
38	chr20:41179200-41181000	Enhancers	Brain Germinal Matrix	brain
39	chr20:41181600-41182000	Enhancers	Duodenum Mucosa	Duodenum
40	chr20:41181800-41182200	Active TSS	GM12878-XiMat	blood
41	chr20:41182000-41182400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr20:41182000-41182600	Active TSS	Duodenum Mucosa	Duodenum
43	chr20:41182200-41182600	Flanking Active TSS	GM12878-XiMat	blood
44	chr20:41182200-41182800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr20:41182400-41182600	Enhancers	Right Atrium	heart
46	chr20:41182600-41187400	Weak transcription	Right Atrium	heart
47	chr20:41182800-41184000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr20:41184000-41185800	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr20:41185800-41197800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr20:41187400-41187600	ZNF genes & repeats	Right Atrium	heart

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