Variant report

Variant	esv16916
Chromosome Location	chr5:98853504-98872433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:98864846-98865096	GM12878	blood:	n/a	n/a
2	CBX3	chr5:98862548-98862851	K562	blood:	n/a	n/a
3	CEBPB	chr5:98862547-98862771	K562	blood:	n/a	n/a
4	CEBPB	chr5:98862426-98862864	K562	blood:	n/a	n/a
5	CEBPD	chr5:98862574-98862862	K562	blood:	n/a	n/a
6	CTCF	chr5:98865254-98865297	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr5:98861253-98861301	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr5:98862612-98862857	K562	blood:	n/a	n/a
9	CTCF	chr5:98869683-98869785	GM20000	blood:	n/a	n/a
10	CTCF	chr5:98862643-98862910	K562	blood:	n/a	n/a
11	CTCF	chr5:98862474-98863051	K562	blood:	n/a	n/a
12	CTCF	chr5:98870065-98870112	GM10266	blood:	n/a	n/a
13	FOXA1	chr5:98866720-98867112	HepG2	liver:	n/a	n/a
14	GABPA	chr5:98858562-98858799	Hela-S3	cervix:	n/a	n/a
15	GABPA	chr5:98859426-98859618	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr5:98858589-98858687	Hela-S3	cervix:	n/a	n/a
17	JUND	chr5:98858569-98858740	HepG2	liver:	n/a	n/a
18	NR2F2	chr5:98862521-98862919	K562	blood:	n/a	n/a
19	PAX5	chr5:98861493-98861977	GM12878	blood:	n/a	n/a
20	PAX5	chr5:98869201-98869475	GM12878	blood:	n/a	n/a
21	PAX5	chr5:98860535-98860705	GM12878	blood:	n/a	n/a
22	PAX5	chr5:98864806-98865099	GM12878	blood:	n/a	n/a
23	PAX5	chr5:98871985-98872158	GM12878	blood:	n/a	n/a
24	PBX3	chr5:98866709-98866997	GM12878	blood:	n/a	n/a
25	PBX3	chr5:98872262-98872375	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:98864855-98865054	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr5:98864864-98865165	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:98858551-98858769	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr5:98870114-98870123	MCF-7	breast:	n/a	n/a
30	POLR2A	chr5:98858494-98858795	GM12878	blood:	n/a	n/a
31	POLR2A	chr5:98855846-98855908	MCF-7	breast:	n/a	n/a
32	POU2F2	chr5:98872323-98872624	GM12878	blood:	n/a	n/a
33	POU2F2	chr5:98858459-98858880	GM12878	blood:	n/a	n/a
34	POU2F2	chr5:98859348-98859737	GM12878	blood:	n/a	n/a
35	POU2F2	chr5:98866663-98867032	GM12878	blood:	n/a	n/a
36	REST	chr5:98854949-98854992	GM12878	blood:	n/a	n/a
37	SIX5	chr5:98864867-98865114	K562	blood:	n/a	n/a
38	SP1	chr5:98866670-98866945	GM12878	blood:	n/a	n/a
39	SPI1	chr5:98858515-98858785	GM12878	blood:	n/a	n/a
40	SPI1	chr5:98853347-98853652	GM12891	blood:	n/a	n/a
41	SPI1	chr5:98853329-98853643	GM12891	blood:	n/a	n/a
42	SPI1	chr5:98853389-98853594	GM12878	blood:	n/a	n/a
43	SPI1	chr5:98853331-98853648	GM12878	blood:	n/a	n/a
44	SPI1	chr5:98858525-98858744	K562	blood:	n/a	n/a
45	SPI1	chr5:98859370-98859573	GM12878	blood:	n/a	n/a
46	TAF1	chr5:98864818-98864970	Hela-S3	cervix:	n/a	n/a
47	TCF12	chr5:98858532-98858783	GM12878	blood:	n/a	n/a
48	TCF12	chr5:98859380-98859602	GM12878	blood:	n/a	n/a
49	TCF3	chr5:98865185-98865405	GM12878	blood:	n/a	n/a
50	TCF3	chr5:98872183-98872429	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:98860157-98860207	HRCEpiC	kidney:	n/a
2	chr5:98860157-98860207	IMR90	lung:	fetal
3	chr5:98860157-98860207	HCT-116	colon:	n/a
4	chr5:98860157-98860207	T-47D	breast:	n/a
5	chr5:98860157-98860207	ECC-1	luminal epithelium:	n/a
6	chr5:98860157-98860207	SK-N-MC	brain:	n/a
7	chr5:98860157-98860207	K562	blood:	n/a
8	chr5:98860157-98860207	GM19239	blood:	n/a
9	chr5:98860157-98860207	A549	lung:	n/a
10	chr5:98860157-98860207	NHDF-neo	bronchial:	n/a
11	chr5:98860157-98860207	HEEpiC	esophagus:	n/a
12	chr5:98860157-98860207	HepG2	liver:	n/a
13	chr5:98860157-98860207	HPAEpiC	pulmonary alveolar:	n/a
14	chr5:98860157-98860207	AG04450	lung:	fetal
15	chr5:98860157-98860207	HMEC	breast:	n/a
16	chr5:98860157-98860207	PrEC	prostate:	n/a
17	chr5:98860157-98860207	HIPEpiC	eye:	n/a
18	chr5:98860157-98860207	GM12891	blood:	n/a
19	chr5:98860157-98860207	Jurkat	blood:	n/a
20	chr5:98860157-98860207	MCF-7	breast:	n/a
21	chr5:98860157-98860207	HUVEC	blood vessel:	n/a
22	chr5:98860157-98860207	HRE	kidney:	n/a
23	chr5:98860157-98860207	GM12878	blood:	n/a
24	chr5:98860157-98860207	NB4	blood:	n/a
25	chr5:98860157-98860207	AG10803	skin:	n/a
26	chr5:98860157-98860207	HAEpiC	amniotic membrane:	n/a
27	chr5:98860157-98860207	Caco-2	colon:	n/a
28	chr5:98860157-98860207	HCF	heart:	n/a
29	chr5:98860157-98860207	PFSK-1	brain:	n/a
30	chr5:98860157-98860207	SK-N-SH	brain:	n/a
31	chr5:98860157-98860207	MCF10A-Er-Src	breast:	n/a
32	chr5:98860157-98860207	H1-hESC	embryonic stem cell:	embryo
33	chr5:98860157-98860207	HEK293	kidney:	embryo
34	chr5:98860157-98860207	U87	brain:	n/a
35	chr5:98860157-98860207	AoSMC	blood vessel:	n/a
36	chr5:98860157-98860207	RPTEC	kidney:	n/a
37	chr5:98860157-98860207	NH-A	brain:	n/a
38	chr5:98860157-98860207	HL-60	blood:	n/a
39	chr5:98860157-98860207	LNCaP	prostate:	n/a
40	chr5:98860157-98860207	NT2-D1	testis:	n/a
41	chr5:98860157-98860207	HCPEpiC	choroid plexus:	n/a
42	chr5:98860157-98860207	SK-N-SH_RA	brain:	n/a
43	chr5:98860157-98860207	Hela-S3	cervix:	n/a
44	chr5:98860157-98860207	PANC-1	pancreas:	n/a
45	chr5:98860157-98860207	AG04449	skin:	fetal
46	chr5:98860157-98860207	ovcar-3	ovarian:	n/a
47	chr5:98860157-98860207	Hepatocyte	liver:	n/a
48	chr5:98860157-98860207	HCM	heart:	n/a
49	chr5:98860157-98860207	BJ	skin:	n/a
50	chr5:98860157-98860207	GM12892	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000206356	TF binding region
GUSBP8	TF binding region
ENSG00000206356	CpG island
GUSBP8	CpG island

Extended variants
information (count: 177 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568317752	chr5:98858038-98858039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs70984366	chr5:98858067-98858068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536558921	chr5:98858071-98858072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554872237	chr5:98858074-98858075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566696876	chr5:98858076-98858077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2963616	chr5:98858122-98858123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs180826161	chr5:98858143-98858144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141972811	chr5:98858147-98858148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543923154	chr5:98858152-98858153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556132266	chr5:98858161-98858162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183637283	chr5:98858175-98858176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368057068	chr5:98858187-98858188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542136940	chr5:98858199-98858200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71653691	chr5:98858220-98858221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370489632	chr5:98858222-98858223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373241711	chr5:98858241-98858242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527351564	chr5:98858272-98858273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2963617	chr5:98858297-98858298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201452857	chr5:98858322-98858323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367601567	chr5:98858327-98858328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531529456	chr5:98858328-98858329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372835846	chr5:98858450-98858451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145676920	chr5:98858452-98858453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28718085	chr5:98858469-98858470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2846004	chr5:98858509-98858510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568327532	chr5:98858513-98858514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71653692	chr5:98858538-98858539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2682145	chr5:98858544-98858545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs548572637	chr5:98858550-98858551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28555342	chr5:98858552-98858553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566885358	chr5:98858558-98858559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74815098	chr5:98858576-98858577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28396359	chr5:98858603-98858604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534240961	chr5:98858608-98858609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28407353	chr5:98858624-98858625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559093285	chr5:98858645-98858646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2682146	chr5:98858678-98858679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112482872	chr5:98858681-98858682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56371960	chr5:98858688-98858689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538421085	chr5:98858692-98858693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4703094	chr5:98858706-98858707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201128274	chr5:98858733-98858734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62374992	chr5:98858756-98858757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377275344	chr5:98858767-98858768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370711206	chr5:98858824-98858825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556510413	chr5:98858841-98858842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575049837	chr5:98858868-98858869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542133308	chr5:98858896-98858897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375152355	chr5:98858921-98858922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571710462	chr5:98858937-98858938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98858000-98858400	Enhancers	Fetal Muscle Trunk	muscle
2	chr5:98858000-98858400	Enhancers	Fetal Muscle Leg	muscle
3	chr5:98858400-98859400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:98859400-98859600	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:98870000-98870200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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