Variant report

Variant	esv1814522
Chromosome Location	chr20:53592333-53604668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:53596926..53599724-chr20:53601086..53602936,2	K562	blood:
2	chr20:53596926..53599724-chr20:53601086..53602936,2	K562	blood:
3	chr1:155099117..155101296-chr20:53597259..53598792,2	MCF-7	breast:
4	chr20:53596599..53597549-chr20:54756410..54757311,4	MCF-7	breast:
5	chr20:53597017..53597603-chr20:54746244..54746870,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169242	chromatin interactions

Extended variants
information (count: 429 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:429 , 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	rs6127345	chr20:53592333-53592334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183899626	chr20:53592348-53592349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11477686	chr20:53592362-53592363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541178979	chr20:53592365-53592366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6092014	chr20:53592407-53592408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560216194	chr20:53592408-53592409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577077597	chr20:53592428-53592429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188726642	chr20:53592442-53592443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181506742	chr20:53592469-53592470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531633569	chr20:53592542-53592543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530034955	chr20:53592577-53592578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117701153	chr20:53592611-53592612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561110142	chr20:53592669-53592670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530134553	chr20:53592696-53592697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370715927	chr20:53592712-53592713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76888856	chr20:53592713-53592714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540646298	chr20:53592765-53592766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78333188	chr20:53592783-53592784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80325027	chr20:53592802-53592803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76924087	chr20:53592803-53592804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76312744	chr20:53592804-53592805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77765927	chr20:53592805-53592806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58457747	chr20:53592806-53592807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549794358	chr20:53592844-53592845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570190196	chr20:53592860-53592861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570000468	chr20:53592886-53592887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532525514	chr20:53592894-53592895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78373568	chr20:53592941-53592942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184989996	chr20:53592944-53592945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75670906	chr20:53592965-53592966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552709966	chr20:53592973-53592974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566145672	chr20:53592977-53592978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531277954	chr20:53592992-53592993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142373791	chr20:53593019-53593020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567938918	chr20:53593053-53593054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533800109	chr20:53593056-53593057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553547228	chr20:53593102-53593103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577017561	chr20:53593131-53593132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545968705	chr20:53593151-53593152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556383359	chr20:53593169-53593170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs159081	chr20:53593204-53593205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190329151	chr20:53593240-53593241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567396021	chr20:53593276-53593277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs159080	chr20:53593291-53593292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs530005769	chr20:53593295-53593296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6098347	chr20:53593296-53593297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560336052	chr20:53593341-53593342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532465807	chr20:53593345-53593346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6092015	chr20:53593363-53593364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569089998	chr20:53593378-53593379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Medulloblastoma	16783165	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:53592200-53592600	Enhancers	Adipose Nuclei	Adipose
2	chr20:53592600-53596600	Weak transcription	Adipose Nuclei	Adipose
3	chr20:53595800-53597000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:53596600-53597400	Enhancers	Adipose Nuclei	Adipose
5	chr20:53596800-53597000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:53596800-53597600	Enhancers	Fetal Kidney	kidney
7	chr20:53597000-53598800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr20:53597200-53597600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr20:53597600-53599600	Weak transcription	Fetal Kidney	kidney
10	chr20:53598800-53599600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:53599600-53599800	Enhancers	Fetal Kidney	kidney
12	chr20:53599600-53600800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:53599800-53600800	Weak transcription	Fetal Kidney	kidney
14	chr20:53600800-53601000	Enhancers	Fetal Kidney	kidney
15	chr20:53600800-53601600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr20:53600800-53602000	Enhancers	Sigmoid Colon	Sigmoid Colon

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