Variant report

Variant	esv2491334
Chromosome Location	chr5:98809278-98843644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:98814204-98814519	GM12878	blood:	n/a	n/a
2	BATF	chr5:98814202-98814524	GM12878	blood:	n/a	n/a
3	BCL11A	chr5:98814165-98814533	GM12878	blood:	n/a	n/a
4	CEBPB	chr5:98836275-98836477	HepG2	liver:	n/a	chr5:98836412-98836423 chr5:98836442-98836453
5	CTCF	chr5:98813241-98813351	A549	lung:	n/a	n/a
6	CTCF	chr5:98813294-98813316	ProgFib	skin:	n/a	n/a
7	CTCF	chr5:98810640-98810727	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr5:98831941-98832025	Fibrobl	skin:	n/a	n/a
9	CTCF	chr5:98813249-98813290	ProgFib	skin:	n/a	n/a
10	CTCF	chr5:98826644-98826677	GM13976	blood:	n/a	n/a
11	CTCF	chr5:98813258-98813334	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:98816111-98816147	Medullo	brain:	n/a	n/a
13	CTCF	chr5:98813307-98813341	GM20000	blood:	n/a	n/a
14	CTCF	chr5:98842685-98842741	GM20000	blood:	n/a	n/a
15	IRF4	chr5:98814170-98814475	GM12878	blood:	n/a	n/a
16	MAFF	chr5:98826125-98826395	HepG2	liver:	n/a	n/a
17	MAFK	chr5:98826125-98826399	HepG2	liver:	n/a	chr5:98826235-98826252
18	MAFK	chr5:98826165-98826368	IMR90	lung:	n/a	chr5:98826235-98826252
19	MAFK	chr5:98826204-98826303	K562	blood:	n/a	chr5:98826235-98826252
20	MAFK	chr5:98826111-98826416	HepG2	liver:	n/a	chr5:98826235-98826252
21	MYC	chr5:98813446-98813577	MCF-7	breast:	n/a	n/a
22	MYC	chr5:98828373-98828436	MCF-7	breast:	n/a	n/a
23	MYC	chr5:98828321-98828439	MCF-7	breast:	n/a	n/a
24	MYC	chr5:98813578-98813582	MCF-7	breast:	n/a	n/a
25	MYC	chr5:98828368-98828475	MCF-7	breast:	n/a	n/a
26	MYC	chr5:98813187-98813410	MCF-7	breast:	n/a	n/a
27	MYC	chr5:98813203-98813329	MCF-7	breast:	n/a	n/a
28	NFIC	chr5:98814189-98814581	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:98831695-98831830	ProgFib	skin:	n/a	n/a
30	POLR2A	chr5:98813156-98813313	MCF-7	breast:	n/a	n/a
31	POLR2A	chr5:98829244-98829253	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr5:98815706-98815732	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr5:98813182-98813677	A549	lung:	n/a	n/a
34	POLR2A	chr5:98828382-98828449	A549	lung:	n/a	n/a
35	POLR2A	chr5:98831912-98832040	MCF-7	breast:	n/a	n/a
36	POLR2A	chr5:98809957-98810065	MCF-7	breast:	n/a	n/a
37	POLR2A	chr5:98809168-98809333	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr5:98809178-98809392	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr5:98828318-98828469	ProgFib	skin:	n/a	n/a
40	POLR2A	chr5:98831952-98831968	MCF-7	breast:	n/a	n/a
41	POLR2A	chr5:98828979-98829062	ProgFib	skin:	n/a	n/a
42	POLR2A	chr5:98831967-98831974	Gliobla	brain:	n/a	n/a
43	POLR2A	chr5:98831976-98832000	MCF-7	breast:	n/a	n/a
44	POLR2A	chr5:98813260-98813285	MCF-7	breast:	n/a	n/a
45	POLR2A	chr5:98828270-98828457	MCF-7	breast:	n/a	n/a
46	POLR2A	chr5:98828457-98828476	A549	lung:	n/a	n/a
47	POLR2A	chr5:98815635-98815701	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr5:98832008-98832024	MCF-7	breast:	n/a	n/a
49	POLR2A	chr5:98828293-98828479	MCF-7	breast:	n/a	n/a
50	POLR2A	chr5:98828364-98828486	Gliobla	brain:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGMB-8	chr5:98834774-98835071	NONHSAT102979
2	lnc-RGMB-8	chr5:98825263-98825644	NONHSAT102979

No data

Variant related genes	Relation type
ENSG00000249444	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545756370	chr5:98825265-98825266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs117947676	chr5:98825295-98825296	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs181172723	chr5:98825301-98825302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs116450645	chr5:98825302-98825303	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs187039006	chr5:98825318-98825319	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs2460654	chr5:98825438-98825439	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548277115	chr5:98825448-98825449	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs566540634	chr5:98825449-98825450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs533794612	chr5:98825453-98825454	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs201968543	chr5:98825468-98825469	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs573588283	chr5:98825622-98825623	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs377661289	chr5:98825623-98825624	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs2460653	chr5:98825627-98825628	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3877918	chr5:98825630-98825631	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs572040477	chr5:98829407-98829408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534454496	chr5:98829437-98829438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs59925898	chr5:98829475-98829476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138198845	chr5:98829494-98829495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190416513	chr5:98829527-98829528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181688393	chr5:98829543-98829544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531090729	chr5:98829548-98829549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6868003	chr5:98829592-98829593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148325633	chr5:98829610-98829611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370076496	chr5:98829674-98829675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73776521	chr5:98829675-98829676	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543549067	chr5:98829727-98829728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553383182	chr5:98829768-98829769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566014468	chr5:98829784-98829785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539343650	chr5:98829851-98829852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112691276	chr5:98829873-98829874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564920923	chr5:98829883-98829884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576167169	chr5:98829888-98829889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532355148	chr5:98829894-98829895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543569350	chr5:98829896-98829897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60874116	chr5:98829930-98829931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559705012	chr5:98829941-98829942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186810104	chr5:98829967-98829968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540657961	chr5:98829974-98829975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558911888	chr5:98829979-98829980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6871348	chr5:98829988-98829989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6893582	chr5:98830018-98830019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190899374	chr5:98830041-98830042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6871375	chr5:98830044-98830045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6893602	chr5:98830051-98830052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6871399	chr5:98830083-98830084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563969285	chr5:98830091-98830092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6893760	chr5:98830146-98830147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375183022	chr5:98830156-98830157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185137060	chr5:98830190-98830191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55873846	chr5:98830195-98830196	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98829400-98830400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:98830000-98830400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:98830000-98830400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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