Variant report

Variant	nsv1021478
Chromosome Location	chr5:98769659-98844524
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	chr5:98814202-98814524	GM12878	blood:	n/a	n/a
2	BATF	chr5:98814204-98814519	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	CEBPB	chr5:98769851-98770087	HepG2	liver:	n/a	chr5:98769935-98769946 chr5:98769935-98769946 chr5:98770018-98770029
6	CTCF	chr5:98816111-98816147	Medullo	brain:	n/a	n/a
7	CTCF	chr5:98773805-98773825	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr5:98813307-98813341	GM20000	blood:	n/a	n/a
9	CTCF	chr5:98826644-98826677	GM13976	blood:	n/a	n/a
10	CTCF	chr5:98813294-98813316	ProgFib	skin:	n/a	n/a
11	CTCF	chr5:98810640-98810727	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr5:98804084-98804228	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr5:98769825-98769886	Lung_OC	lung:	n/a	n/a
14	CTCF	chr5:98779070-98779120	GM20000	blood:	n/a	n/a
15	CTCF	chr5:98813241-98813351	A549	lung:	n/a	n/a
16	CTCF	chr5:98813249-98813290	ProgFib	skin:	n/a	n/a
17	CTCF	chr5:98842685-98842741	GM20000	blood:	n/a	n/a
18	CTCF	chr5:98831941-98832025	Fibrobl	skin:	n/a	n/a
19	CTCF	chr5:98813258-98813334	MCF-7	breast:	n/a	n/a
20	E2F4	chr5:98771775-98771938	MCF10A-Er-Src	breast:	n/a	n/a
21	E2F4	chr5:98786289-98786461	MCF10A-Er-Src	breast:	n/a	n/a
22	EP300	chr5:98806832-98807252	T-47D	breast:	n/a	chr5:98806979-98806989
23	FOS	chr5:98797234-98797588	HUVEC	blood vessel:	n/a	n/a
24	FOS	chr5:98777006-98777173	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr5:98795937-98796749	HUVEC	blood vessel:	n/a	n/a
26	FOXA1	chr5:98806353-98806717	T-47D	breast:	n/a	n/a
27	FOXA1	chr5:98806832-98807312	T-47D	breast:	n/a	chr5:98807060-98807072
28	FOXA1	chr5:98806467-98806629	T-47D	breast:	n/a	n/a
29	FOXA1	chr5:98781422-98781779	T-47D	breast:	n/a	chr5:98781516-98781528
30	FOXA2	chr5:98806849-98807189	A549	lung:	n/a	chr5:98807060-98807072
31	GATA3	chr5:98806834-98807331	T-47D	breast:	n/a	n/a
32	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
33	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
34	GATA3	chr5:98774366-98774751	MCF-7	breast:	n/a	chr5:98774679-98774686 chr5:98774679-98774686 chr5:98774679-98774686 chr5:98774679-98774688
35	GATA3	chr5:98806411-98806631	T-47D	breast:	n/a	n/a
36	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
37	GATA3	chr5:98806916-98807143	T-47D	breast:	n/a	n/a
38	IRF3	chr5:98781315-98781336	GM12878	blood:	n/a	n/a
39	IRF4	chr5:98814170-98814475	GM12878	blood:	n/a	n/a
40	JUND	chr5:98798156-98798331	HepG2	liver:	n/a	n/a
41	MAFF	chr5:98773702-98774074	HepG2	liver:	n/a	chr5:98773877-98773895
42	MAFF	chr5:98773729-98774041	K562	blood:	n/a	chr5:98773877-98773895
43	MAFF	chr5:98808270-98808473	HepG2	liver:	n/a	n/a
44	MAFF	chr5:98826125-98826395	HepG2	liver:	n/a	n/a
45	MAFK	chr5:98773736-98774037	K562	blood:	n/a	chr5:98773879-98773894 chr5:98773879-98773890
46	MAFK	chr5:98773809-98774017	H1-hESC	embryonic stem cell:	n/a	chr5:98773879-98773894 chr5:98773879-98773890
47	MAFK	chr5:98826111-98826416	HepG2	liver:	n/a	chr5:98826235-98826252
48	MAFK	chr5:98826165-98826368	IMR90	lung:	n/a	chr5:98826235-98826252
49	MAFK	chr5:98773707-98774067	HepG2	liver:	n/a	chr5:98773879-98773894 chr5:98773879-98773890
50	MAFK	chr5:98808272-98808464	HepG2	liver:	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: 466 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2688941	chr5:98769659-98769660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2688942	chr5:98769662-98769663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145121333	chr5:98769670-98769671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3906408	chr5:98769673-98769674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs530146133	chr5:98769687-98769688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548617065	chr5:98769729-98769730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2947047	chr5:98769733-98769734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534182214	chr5:98769855-98769856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375574806	chr5:98769865-98769866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571563397	chr5:98769883-98769884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112057448	chr5:98769886-98769887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9687729	chr5:98769895-98769896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186171299	chr5:98769902-98769903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542376508	chr5:98769917-98769918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554611822	chr5:98769935-98769936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375346077	chr5:98769957-98769958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567883356	chr5:98769978-98769979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565282564	chr5:98770000-98770001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115002576	chr5:98770021-98770022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367933778	chr5:98770029-98770030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568860024	chr5:98770039-98770040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562745849	chr5:98770056-98770057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530280095	chr5:98770072-98770073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574424645	chr5:98770077-98770078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201976532	chr5:98770086-98770087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369310636	chr5:98770088-98770089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189902417	chr5:98770089-98770090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182176894	chr5:98770105-98770106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527732359	chr5:98770107-98770108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371799884	chr5:98770136-98770137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2688944	chr5:98770145-98770146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148328799	chr5:98770149-98770150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373674958	chr5:98770150-98770151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562492431	chr5:98770161-98770162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57343226	chr5:98770172-98770173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550868350	chr5:98770182-98770183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2963575	chr5:98773004-98773005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187893648	chr5:98773018-98773019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541064541	chr5:98773019-98773020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35952439	chr5:98773044-98773045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9326792	chr5:98773051-98773052	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531226740	chr5:98773056-98773057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112476917	chr5:98773065-98773066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544006485	chr5:98773067-98773068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549885435	chr5:98773094-98773095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556013772	chr5:98773097-98773098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561604068	chr5:98773117-98773118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528926544	chr5:98773140-98773141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149742267	chr5:98773142-98773143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182995670	chr5:98773150-98773151	Enhancers	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98767600-98770200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:98773000-98773600	Enhancers	Colon Smooth Muscle	Colon
3	chr5:98773200-98774000	Enhancers	Fetal Kidney	kidney
4	chr5:98773400-98774200	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:98773600-98773800	Enhancers	Gastric	stomach
6	chr5:98779000-98779400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:98779000-98779800	Enhancers	Stomach Mucosa	stomach
8	chr5:98779800-98780800	Weak transcription	Stomach Mucosa	stomach
9	chr5:98780800-98781800	Enhancers	Stomach Mucosa	stomach
10	chr5:98781200-98781600	Enhancers	Gastric	stomach
11	chr5:98781800-98783600	Weak transcription	Stomach Mucosa	stomach
12	chr5:98783600-98784000	Enhancers	Stomach Mucosa	stomach
13	chr5:98785400-98785800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:98785400-98786000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:98795600-98796800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:98795600-98798000	Enhancers	HUVEC	blood vessel
17	chr5:98795800-98796200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:98796000-98796400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:98796000-98796400	Enhancers	HMEC	breast
20	chr5:98796200-98796600	Enhancers	Stomach Mucosa	stomach
21	chr5:98797800-98798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:98829400-98830400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:98830000-98830400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:98830000-98830400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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