Variant report

Variant	esv2755022
Chromosome Location	chr5:98774240-98842090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr5:98813249-98813290	ProgFib	skin:	n/a	n/a
6	CTCF	chr5:98831941-98832025	Fibrobl	skin:	n/a	n/a
7	CTCF	chr5:98813241-98813351	A549	lung:	n/a	n/a
8	CTCF	chr5:98816111-98816147	Medullo	brain:	n/a	n/a
9	CTCF	chr5:98804084-98804228	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr5:98810640-98810727	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr5:98813258-98813334	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:98813294-98813316	ProgFib	skin:	n/a	n/a
13	CTCF	chr5:98826644-98826677	GM13976	blood:	n/a	n/a
14	CTCF	chr5:98779070-98779120	GM20000	blood:	n/a	n/a
15	CTCF	chr5:98813307-98813341	GM20000	blood:	n/a	n/a
16	E2F4	chr5:98786289-98786461	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr5:98806832-98807252	T-47D	breast:	n/a	chr5:98806979-98806989
18	FOS	chr5:98777006-98777173	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr5:98797234-98797588	HUVEC	blood vessel:	n/a	n/a
20	FOS	chr5:98795937-98796749	HUVEC	blood vessel:	n/a	n/a
21	FOXA1	chr5:98806832-98807312	T-47D	breast:	n/a	chr5:98807060-98807072
22	FOXA1	chr5:98781422-98781779	T-47D	breast:	n/a	chr5:98781516-98781528
23	FOXA1	chr5:98806467-98806629	T-47D	breast:	n/a	n/a
24	FOXA1	chr5:98806353-98806717	T-47D	breast:	n/a	n/a
25	FOXA2	chr5:98806849-98807189	A549	lung:	n/a	chr5:98807060-98807072
26	GATA3	chr5:98774177-98775206	MCF-7	breast:	n/a	chr5:98774679-98774686 chr5:98774679-98774686 chr5:98774966-98774979 chr5:98774970-98774977 chr5:98774679-98774686 chr5:98774679-98774688
27	GATA3	chr5:98806411-98806631	T-47D	breast:	n/a	n/a
28	GATA3	chr5:98806834-98807331	T-47D	breast:	n/a	n/a
29	GATA3	chr5:98774366-98774751	MCF-7	breast:	n/a	chr5:98774679-98774686 chr5:98774679-98774686 chr5:98774679-98774686 chr5:98774679-98774688
30	GATA3	chr5:98774030-98775311	MCF-7	breast:	n/a	chr5:98774679-98774686 chr5:98774679-98774686 chr5:98774966-98774979 chr5:98774970-98774977 chr5:98774679-98774686 chr5:98774679-98774688
31	GATA3	chr5:98774222-98775359	MCF-7	breast:	n/a	chr5:98774679-98774686 chr5:98774679-98774686 chr5:98774966-98774979 chr5:98774970-98774977 chr5:98774679-98774686 chr5:98774679-98774688
32	GATA3	chr5:98806916-98807143	T-47D	breast:	n/a	n/a
33	IRF3	chr5:98781315-98781336	GM12878	blood:	n/a	n/a
34	IRF4	chr5:98814170-98814475	GM12878	blood:	n/a	n/a
35	JUND	chr5:98798156-98798331	HepG2	liver:	n/a	n/a
36	MAFF	chr5:98808270-98808473	HepG2	liver:	n/a	n/a
37	MAFF	chr5:98826125-98826395	HepG2	liver:	n/a	n/a
38	MAFK	chr5:98785587-98785594	K562	blood:	n/a	n/a
39	MAFK	chr5:98808272-98808464	HepG2	liver:	n/a	n/a
40	MAFK	chr5:98826111-98826416	HepG2	liver:	n/a	chr5:98826235-98826252
41	MAFK	chr5:98826125-98826399	HepG2	liver:	n/a	chr5:98826235-98826252
42	MAFK	chr5:98808284-98808409	HepG2	liver:	n/a	n/a
43	MAFK	chr5:98793209-98793283	HepG2	liver:	n/a	n/a
44	MAFK	chr5:98826204-98826303	K562	blood:	n/a	chr5:98826235-98826252
45	MAFK	chr5:98826165-98826368	IMR90	lung:	n/a	chr5:98826235-98826252
46	MAX	chr5:98780915-98780930	HepG2	liver:	n/a	n/a
47	MAZ	chr5:98779624-98779743	HepG2	liver:	n/a	n/a
48	MYC	chr5:98828373-98828436	MCF-7	breast:	n/a	n/a
49	MYC	chr5:98813446-98813577	MCF-7	breast:	n/a	n/a
50	MYC	chr5:98828368-98828475	MCF-7	breast:	n/a	n/a

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

Variant related genes	Relation type
ENSG00000249444	TF binding region

Extended variants
information (count: 376 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:376 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541755235	chr5:98779014-98779015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532178199	chr5:98779016-98779017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549255364	chr5:98779018-98779019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72779565	chr5:98779036-98779037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559993893	chr5:98779046-98779047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547582639	chr5:98779060-98779061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571955576	chr5:98779070-98779071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185628124	chr5:98779083-98779084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146043698	chr5:98779117-98779118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531307801	chr5:98779123-98779124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190834938	chr5:98779124-98779125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561680814	chr5:98779172-98779173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139799930	chr5:98779173-98779174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551115141	chr5:98779188-98779189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527898257	chr5:98779191-98779192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183389332	chr5:98779298-98779299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566376796	chr5:98779312-98779313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533617812	chr5:98779343-98779344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116256587	chr5:98779395-98779396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141565116	chr5:98779400-98779401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146201945	chr5:98779404-98779405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533655398	chr5:98779422-98779423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537172288	chr5:98779431-98779432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368783730	chr5:98779502-98779503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567349454	chr5:98779507-98779508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1403660	chr5:98779530-98779531	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs571255282	chr5:98779594-98779595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2948759	chr5:98779597-98779598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572016728	chr5:98779606-98779607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368217647	chr5:98779626-98779627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570045415	chr5:98779646-98779647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369693929	chr5:98779647-98779648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557688416	chr5:98779657-98779658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576149973	chr5:98779691-98779692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543190204	chr5:98779695-98779696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369953759	chr5:98779696-98779697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561746057	chr5:98779742-98779743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148434631	chr5:98779747-98779748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186815601	chr5:98779758-98779759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2511929	chr5:98779762-98779763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559352633	chr5:98779765-98779766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114772086	chr5:98779833-98779834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191978118	chr5:98779856-98779857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570171186	chr5:98779874-98779875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142898403	chr5:98779885-98779886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531111234	chr5:98779894-98779895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549111768	chr5:98779913-98779914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534250252	chr5:98780013-98780014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367768884	chr5:98780014-98780015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183944501	chr5:98780044-98780045	Weak transcription	n/a	n/a	Overlapped CNVs	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98779000-98779400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:98779000-98779800	Enhancers	Stomach Mucosa	stomach
3	chr5:98779800-98780800	Weak transcription	Stomach Mucosa	stomach
4	chr5:98780800-98781800	Enhancers	Stomach Mucosa	stomach
5	chr5:98781200-98781600	Enhancers	Gastric	stomach
6	chr5:98781800-98783600	Weak transcription	Stomach Mucosa	stomach
7	chr5:98783600-98784000	Enhancers	Stomach Mucosa	stomach
8	chr5:98785400-98785800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:98785400-98786000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:98795600-98796800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:98795600-98798000	Enhancers	HUVEC	blood vessel
12	chr5:98795800-98796200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:98796000-98796400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:98796000-98796400	Enhancers	HMEC	breast
15	chr5:98796200-98796600	Enhancers	Stomach Mucosa	stomach
16	chr5:98797800-98798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:98829400-98830400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:98830000-98830400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:98830000-98830400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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