Variant report

Variant	esv2763919
Chromosome Location	chr5:98905092-99159754
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:585)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:99057145-99057860	HepG2	liver:	n/a	n/a
2	BRCA1	chr5:99122610-99122760	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr5:99084107-99084147	HepG2	liver:	n/a	n/a
4	CCNT2	chr5:98927320-98927465	K562	blood:	n/a	n/a
5	CEBPB	chr5:98949483-98949681	HepG2	liver:	n/a	chr5:98949503-98949516
6	CEBPB	chr5:99129266-99129373	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr5:98949448-98949665	A549	lung:	n/a	chr5:98949503-98949516
8	CEBPB	chr5:99126521-99126722	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr5:98930693-98930960	HepG2	liver:	n/a	chr5:98930825-98930836
10	CEBPB	chr5:98986986-98987320	HepG2	liver:	n/a	chr5:98987138-98987149
11	CEBPB	chr5:98949487-98949659	IMR90	lung:	n/a	chr5:98949503-98949516
12	CEBPB	chr5:99122553-99122736	A549	lung:	n/a	n/a
13	CEBPB	chr5:99084164-99084355	HepG2	liver:	n/a	chr5:99084296-99084307
14	CEBPB	chr5:99015733-99015934	A549	lung:	n/a	chr5:99015846-99015857
15	CEBPB	chr5:98922562-98922967	MCF-7	breast:	n/a	n/a
16	CEBPB	chr5:99015709-99015988	HepG2	liver:	n/a	chr5:99015846-99015857
17	CEBPB	chr5:99103187-99103443	A549	lung:	n/a	n/a
18	CEBPB	chr5:98922755-98922860	HepG2	liver:	n/a	n/a
19	CEBPB	chr5:98986993-98987297	IMR90	lung:	n/a	chr5:98987138-98987149
20	CEBPB	chr5:99038381-99038650	HepG2	liver:	n/a	chr5:99038534-99038545
21	CEBPB	chr5:99015785-99015940	K562	blood:	n/a	chr5:99015846-99015857
22	CEBPB	chr5:98922470-98923076	MCF-7	breast:	n/a	n/a
23	CEBPB	chr5:99144593-99144845	HepG2	liver:	n/a	n/a
24	CEBPB	chr5:98986963-98987222	K562	blood:	n/a	chr5:98987138-98987149
25	CEBPB	chr5:99144581-99144899	A549	lung:	n/a	n/a
26	CEBPB	chr5:99011200-99011461	HepG2	liver:	n/a	chr5:99011331-99011342 chr5:99011332-99011341
27	CEBPB	chr5:98922716-98922875	A549	lung:	n/a	n/a
28	CEBPB	chr5:99144679-99144917	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr5:98926512-98927045	MCF-7	breast:	n/a	n/a
30	CEBPB	chr5:98942379-98942440	HepG2	liver:	n/a	chr5:98942416-98942427
31	CEBPB	chr5:99116549-99116684	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr5:99071035-99071195	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:98982114-98982210	MCF-7	breast:	n/a	n/a
34	CTCF	chr5:99097325-99097395	Lung_OC	lung:	n/a	n/a
35	CTCF	chr5:99051740-99051890	MCF-7	breast:	n/a	chr5:99051824-99051840
36	CTCF	chr5:99051740-99051890	HCT-116	colon:	n/a	chr5:99051824-99051840
37	CTCF	chr5:98982090-98982213	Gliobla	brain:	n/a	n/a
38	CTCF	chr5:99051799-99051852	HepG2	liver:	n/a	chr5:99051824-99051840
39	CTCF	chr5:99098742-99098934	MCF-7	breast:	n/a	n/a
40	CTCF	chr5:99098742-99098911	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:99070493-99070539	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr5:99098748-99098941	MCF-7	breast:	n/a	n/a
43	CTCF	chr5:98934969-98935013	GM13976	blood:	n/a	n/a
44	CTCF	chr5:99070518-99070618	ProgFib	skin:	n/a	n/a
45	CTCF	chr5:99051740-99051890	SK-N-SH_RA	brain:	n/a	chr5:99051824-99051840
46	CTCF	chr5:98920060-98920133	GM13976	blood:	n/a	n/a
47	CTCF	chr5:99070171-99070202	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr5:98920317-98920334	GM13976	blood:	n/a	n/a
49	CTCF	chr5:99051740-99051890	GM06990	blood:	n/a	chr5:99051824-99051840
50	CTCF	chr5:98963782-98963860	ProgFib	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:99014412..99016178-chr5:99017039..99019212,2	K562	blood:
2	chr5:99141699..99143792-chr5:99151090..99154054,2	MCF-7	breast:
3	chr5:98936687..98938908-chr5:98939757..98941511,2	MCF-7	breast:
4	chr5:98983247..98985665-chr5:98986689..98988477,2	K562	blood:
5	chr5:99014412..99016178-chr5:99017039..99019212,2	K562	blood:
6	chr5:99089940..99092003-chr5:99110491..99113397,2	MCF-7	breast:
7	chr5:99005599..99009743-chr5:99010276..99013460,3	MCF-7	breast:
8	chr5:98983247..98985665-chr5:98986689..98988477,2	K562	blood:
9	chr5:98973640..98976479-chr5:98981401..98983390,2	MCF-7	breast:
10	chr5:98936687..98938908-chr5:98939757..98941511,2	MCF-7	breast:
11	chr5:99141699..99143792-chr5:99151090..99154054,2	MCF-7	breast:
12	chr5:98973640..98976479-chr5:98981401..98983390,2	MCF-7	breast:
13	chr5:99100175..99102793-chr5:99107234..99109956,2	MCF-7	breast:
14	chr5:99005599..99009743-chr5:99010276..99013460,3	MCF-7	breast:
15	chr5:99089940..99092003-chr5:99110491..99113397,2	MCF-7	breast:
16	chr5:99100175..99102793-chr5:99107234..99109956,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHD1-8	chr5:98930033-98930444	NONHSAT102982
2	lnc-RGMB-2	chr5:98913427-98913661	ENSG00000249515
3	lnc-RGMB-9	chr5:98930584-98931001	NONHSAT102983

No data

Variant related genes	Relation type
ENSG00000248236	TF binding region
ENSG00000248928	TF binding region

Extended variants
information (count: 2177 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2177 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557452485	chr5:98913454-98913455	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs665942	chr5:98913489-98913490	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs575717244	chr5:98913504-98913505	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs149875449	chr5:98913541-98913542	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs200012286	chr5:98913542-98913543	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs542813222	chr5:98913551-98913552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs554786927	chr5:98913584-98913585	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs557126763	chr5:98914411-98914412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569328839	chr5:98914428-98914429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73776535	chr5:98914441-98914442	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554723540	chr5:98914445-98914446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573137466	chr5:98914547-98914548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540491499	chr5:98914573-98914574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376735556	chr5:98914577-98914578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182943903	chr5:98914608-98914609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576716838	chr5:98914639-98914640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112211034	chr5:98914647-98914648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562384178	chr5:98914671-98914672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529809604	chr5:98914707-98914708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541972788	chr5:98914722-98914723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560372167	chr5:98914735-98914736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527495707	chr5:98914772-98914773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113004886	chr5:98914799-98914800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552156976	chr5:98914807-98914808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570725975	chr5:98914833-98914834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531551213	chr5:98914836-98914837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550952481	chr5:98914838-98914839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138738442	chr5:98914872-98914873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2845993	chr5:98914927-98914928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548293239	chr5:98914940-98914941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566697475	chr5:98914947-98914948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534129045	chr5:98914952-98914953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558945126	chr5:98914953-98914954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185825358	chr5:98914957-98914958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536840722	chr5:98914999-98915000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2845994	chr5:98915016-98915017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139893366	chr5:98915039-98915040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541911194	chr5:98915062-98915063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560308926	chr5:98915157-98915158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190250085	chr5:98915202-98915203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2548095	chr5:98915203-98915204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs182463006	chr5:98915207-98915208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78621432	chr5:98915221-98915222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115799638	chr5:98915225-98915226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549844006	chr5:98915249-98915250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562511589	chr5:98915258-98915259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530059349	chr5:98915264-98915265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548231412	chr5:98915324-98915325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531193114	chr5:98915429-98915430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566634615	chr5:98915482-98915483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98914400-98915200	Enhancers	HUVEC	blood vessel
2	chr5:98914600-98915200	Enhancers	Fetal Heart	heart
3	chr5:98915200-98916400	Weak transcription	HUVEC	blood vessel
4	chr5:98915200-98930800	Weak transcription	Fetal Heart	heart
5	chr5:98916400-98917800	Enhancers	HUVEC	blood vessel
6	chr5:98917800-98919000	Weak transcription	HUVEC	blood vessel
7	chr5:98919000-98919600	Enhancers	HUVEC	blood vessel
8	chr5:98922200-98923000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:98922800-98923400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:98930800-98931800	Enhancers	Fetal Heart	heart
11	chr5:98931800-98932000	Flanking Active TSS	Fetal Heart	heart
12	chr5:98932000-98932200	Enhancers	Fetal Heart	heart
13	chr5:98932200-98932400	Flanking Active TSS	Fetal Heart	heart
14	chr5:98932400-98932600	Enhancers	Fetal Heart	heart
15	chr5:98936600-98937200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:98936600-98937800	Enhancers	HUVEC	blood vessel
17	chr5:98936600-98938200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:98937200-98937600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:98937200-98937600	Enhancers	Dnd41	blood
20	chr5:98937400-98938000	Enhancers	Adipose Nuclei	Adipose
21	chr5:98937600-98938000	Flanking Active TSS	Dnd41	blood
22	chr5:98937800-98938000	Enhancers	Pancreas	Pancrea
23	chr5:98938000-98938200	Enhancers	Dnd41	blood
24	chr5:98939400-98946400	Weak transcription	Pancreas	Pancrea
25	chr5:98950600-98951200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:98950800-98951200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:98957600-98958000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:98957800-98958200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:98957800-98958200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:98957800-98958400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:98958000-98958400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:98958000-98958600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:98972000-98972400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:98979000-98979200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr5:98981800-98982200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:98981800-98982200	Enhancers	NHEK	skin
37	chr5:98982000-98982200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:98982200-98983600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:98983600-98983800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:98983800-98984800	Enhancers	Fetal Heart	heart
41	chr5:98984800-98985800	Weak transcription	Fetal Heart	heart
42	chr5:98985800-98986000	Enhancers	Fetal Heart	heart
43	chr5:98993800-98994800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:99010000-99010800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:99011600-99012000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:99011600-99012000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr5:99011800-99012200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr5:99014800-99015400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:99015000-99015400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:99023800-99024200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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