Variant report

Variant	nsv1059270
Chromosome Location	chr20:24741923-24787243
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:24763560..24765112-chr20:24971515..24973811,2	MCF-7	breast:
2	chr20:24780843..24782788-chr20:24791141..24793003,2	MCF-7	breast:
3	chr20:24749036..24750576-chr20:24754349..24756115,2	MCF-7	breast:
4	chr20:24283824..24284530-chr20:24761681..24762698,3	MCF-7	breast:
5	chr20:24082874..24083567-chr20:24762073..24762659,2	MCF-7	breast:
6	chr20:24770878..24773860-chr20:24773955..24776847,2	MCF-7	breast:
7	chr20:24771465..24772208-chr20:24898686..24899202,2	MCF-7	breast:
8	chr20:24764506..24765162-chr20:24897617..24898498,2	MCF-7	breast:
9	chr20:24363369..24365498-chr20:24749184..24751241,2	MCF-7	breast:
10	chr20:24770878..24773860-chr20:24773955..24776847,2	MCF-7	breast:
11	chr20:24749036..24750576-chr20:24754349..24756115,2	MCF-7	breast:
12	chr20:24760897..24762927-chr20:24971923..24974297,2	MCF-7	breast:
13	chr20:24746739..24748935-chr20:24753285..24754881,2	MCF-7	breast:
14	chr20:24778826..24780956-chr20:24782590..24785406,2	MCF-7	breast:
15	chr20:24786455..24788540-chr20:24788618..24791423,2	MCF-7	breast:
16	chr20:24189074..24189575-chr20:24761714..24762521,2	MCF-7	breast:
17	chr20:24185798..24186480-chr20:24761761..24762538,2	MCF-7	breast:
18	chr17:72982681..72985188-chr20:24771420..24774172,2	MCF-7	breast:
19	chr20:24283757..24284263-chr20:24761732..24762710,2	MCF-7	breast:
20	chr20:24778826..24780956-chr20:24782590..24785406,2	MCF-7	breast:
21	chr20:24630442..24631150-chr20:24777044..24777861,2	MCF-7	breast:
22	chr20:24751479..24753898-chr20:24757094..24759323,2	MCF-7	breast:
23	chr20:24633208..24634877-chr20:24753642..24755749,2	MCF-7	breast:
24	chr20:24764501..24765530-chr20:24898693..24899347,4	MCF-7	breast:
25	chr20:24629904..24632760-chr20:24759535..24761078,2	MCF-7	breast:
26	chr20:24630391..24631212-chr20:24752974..24753906,2	MCF-7	breast:
27	chr20:24771567..24773890-chr20:24790007..24791908,2	MCF-7	breast:
28	chr20:24630371..24631127-chr20:24753147..24753931,3	MCF-7	breast:
29	chr20:24764889..24765421-chr20:24919390..24920112,2	MCF-7	breast:
30	chr20:24755822..24758667-chr20:24759812..24761777,2	MCF-7	breast:
31	chr20:24763298..24765600-chr20:24898179..24900035,23	MCF-7	breast:
32	chr20:24755822..24758667-chr20:24759812..24761777,2	MCF-7	breast:
33	chr20:24746739..24748935-chr20:24753285..24754881,2	MCF-7	breast:
34	chr20:24751479..24753898-chr20:24757094..24759323,2	MCF-7	breast:
35	chr20:24140940..24141858-chr20:24761680..24762579,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101474	chromatin interactions
ENSG00000109089	chromatin interactions

Extended variants
information (count: 2244 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2244 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113035746	chr20:24741979-24741980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375533603	chr20:24742036-24742037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6049962	chr20:24742046-24742047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540463108	chr20:24742072-24742073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2424675	chr20:24742104-24742105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116992166	chr20:24742147-24742148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181500837	chr20:24742217-24742218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10655587	chr20:24742299-24742300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10693008	chr20:24742300-24742301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386393572	chr20:24742301-24742302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200010662	chr20:24742303-24742304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397730929	chr20:24742304-24742305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565295634	chr20:24742319-24742320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117418532	chr20:24742376-24742377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550967459	chr20:24742379-24742380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149559721	chr20:24742385-24742386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530221486	chr20:24742386-24742387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547176733	chr20:24742388-24742389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374843673	chr20:24742541-24742542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144302836	chr20:24742542-24742543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186450153	chr20:24742548-24742549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552445566	chr20:24742550-24742551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551887998	chr20:24742561-24742562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568491988	chr20:24742588-24742589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191277610	chr20:24742595-24742596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140064454	chr20:24742603-24742604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574684330	chr20:24742618-24742619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143665106	chr20:24742625-24742626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113696239	chr20:24742631-24742632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573339135	chr20:24742633-24742634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545499317	chr20:24742642-24742643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs6106943	chr20:24742643-24742644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565404022	chr20:24742660-24742661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2424676	chr20:24742663-24742664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs558976922	chr20:24742666-24742667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7265148	chr20:24742669-24742670	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561378251	chr20:24742673-24742674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577290428	chr20:24742678-24742679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541372246	chr20:24742689-24742690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180902983	chr20:24742744-24742745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11472412	chr20:24742748-24742749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34314389	chr20:24742749-24742750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11473884	chr20:24742771-24742772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200633609	chr20:24742772-24742773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114849691	chr20:24742779-24742780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560301614	chr20:24742799-24742800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139656739	chr20:24742822-24742823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551853770	chr20:24742831-24742832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568653063	chr20:24742834-24742835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6114863	chr20:24742836-24742837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24727400-24743400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:24736800-24743200	Weak transcription	Thymus	Thymus
3	chr20:24737600-24742000	Weak transcription	Fetal Thymus	thymus
4	chr20:24737600-24744200	Weak transcription	Brain Hippocampus Middle	brain
5	chr20:24742000-24744600	Enhancers	Fetal Thymus	thymus
6	chr20:24742800-24748800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr20:24743000-24744200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:24743200-24744000	Enhancers	Brain Angular Gyrus	brain
9	chr20:24743200-24744400	Enhancers	Thymus	Thymus
10	chr20:24743200-24744600	Enhancers	Primary hematopoietic stem cells	blood
11	chr20:24743200-24744600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr20:24743400-24744200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:24743400-24744400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
14	chr20:24743400-24744800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr20:24743800-24744600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr20:24744000-24744200	Enhancers	Primary B cells from cord blood	blood
17	chr20:24744000-24744400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr20:24744000-24744600	Enhancers	Primary B cells from peripheral blood	blood
19	chr20:24744200-24744400	Enhancers	Brain Hippocampus Middle	brain
20	chr20:24744200-24744400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr20:24744200-24744600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr20:24744200-24746200	Weak transcription	Primary B cells from cord blood	blood
23	chr20:24744400-24751400	Weak transcription	Thymus	Thymus
24	chr20:24744600-24746200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr20:24744600-24748400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr20:24744600-24748400	Weak transcription	Fetal Thymus	thymus
27	chr20:24744600-24749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr20:24745200-24746200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr20:24745400-24745600	Enhancers	Fetal Muscle Leg	muscle
30	chr20:24745400-24746000	Bivalent Enhancer	Fetal Stomach	stomach
31	chr20:24745400-24755600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr20:24745600-24746400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr20:24746000-24747800	Weak transcription	Fetal Muscle Leg	muscle
34	chr20:24746200-24746400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr20:24746200-24746600	Enhancers	Primary B cells from cord blood	blood
36	chr20:24746200-24747800	Enhancers	Primary B cells from peripheral blood	blood
37	chr20:24746400-24748600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr20:24747200-24747800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr20:24747400-24747800	Enhancers	Fetal Muscle Trunk	muscle
40	chr20:24747800-24748000	Enhancers	NHEK	skin
41	chr20:24747800-24748600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr20:24747800-24749400	Enhancers	Fetal Muscle Leg	muscle
43	chr20:24747800-24752000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr20:24748200-24749200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr20:24748400-24749000	Enhancers	Fetal Thymus	thymus
46	chr20:24748400-24749200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr20:24748400-24749800	Enhancers	HSMM	muscle
48	chr20:24748400-24749800	Enhancers	NH-A	brain
49	chr20:24748600-24748800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr20:24748600-24749000	Enhancers	Placenta	Placenta

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