Variant report

Variant	esv33926
Chromosome Location	chr20:30042485-30050786
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:30043021..30045109-chr20:30047141..30048737,2	K562	blood:
2	chr20:30042574..30044997-chr20:30046543..30048384,2	MCF-7	breast:
3	chr20:29900644..29901274-chr20:30041865..30042847,4	MCF-7	breast:
4	chr20:30042574..30044997-chr20:30046543..30048384,2	MCF-7	breast:
5	chr20:30048219..30048754-chr20:30090655..30091410,2	MCF-7	breast:
6	chr20:30048029..30048980-chr20:30090666..30091556,3	MCF-7	breast:
7	chr20:30043021..30045109-chr20:30047141..30048737,2	K562	blood:
8	chr20:29900754..29901422-chr20:30042008..30042651,2	MCF-7	breast:
9	chr20:30048218..30048964-chr20:30090625..30091177,2	K562	blood:
10	chr20:30048067..30048963-chr20:30311751..30312260,2	K562	blood:
11	chr20:30047555..30048272-chr4:189297803..189298552,2	MCF-7	breast:
12	chr20:30050729..30053291-chr20:30054906..30056770,2	K562	blood:
13	chr20:30045212..30046827-chr20:30114550..30117367,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171552	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574367031	chr20:30048046-30048047	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs543369123	chr20:30048075-30048076	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560109581	chr20:30048112-30048113	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189506070	chr20:30048113-30048114	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371293984	chr20:30048118-30048119	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs545626044	chr20:30048147-30048148	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374253105	chr20:30048175-30048176	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373509856	chr20:30048201-30048202	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368679089	chr20:30048230-30048231	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs8119917	chr20:30048318-30048319	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs528751371	chr20:30048337-30048338	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112623680	chr20:30048351-30048352	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs377558666	chr20:30048404-30048405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561161142	chr20:30048407-30048408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568297397	chr20:30048490-30048491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530084507	chr20:30048496-30048497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371646915	chr20:30048526-30048527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546561905	chr20:30048564-30048565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566445594	chr20:30048594-30048595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186633322	chr20:30048618-30048619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551959586	chr20:30048631-30048632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569031794	chr20:30048656-30048657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79072922	chr20:30048659-30048660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114440258	chr20:30048698-30048699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs56207446	chr20:30048736-30048737	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190677413	chr20:30048737-30048738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553760298	chr20:30048749-30048750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183181890	chr20:30048753-30048754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145628437	chr20:30048758-30048759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186429502	chr20:30048761-30048762	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191149331	chr20:30048770-30048771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs73232345	chr20:30048773-30048774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs182525056	chr20:30048783-30048784	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530100660	chr20:30048837-30048838	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187940831	chr20:30048886-30048887	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs73116268	chr20:30048906-30048907	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538284673	chr20:30048915-30048916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs138191487	chr20:30048918-30048919	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs552045572	chr20:30048937-30048938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568993451	chr20:30048961-30048962	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150261121	chr20:30049243-30049244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559182715	chr20:30049282-30049283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575822127	chr20:30049377-30049378	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	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
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:30048000-30048200	Bivalent Enhancer	HepG2	liver
2	chr20:30048000-30048400	Enhancers	Primary B cells from peripheral blood	blood
3	chr20:30048000-30048400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr20:30048000-30048400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
5	chr20:30048200-30048400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr20:30048200-30048400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr20:30048200-30048400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:30048200-30048400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr20:30049200-30049400	Enhancers	Fetal Muscle Leg	muscle

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