Variant report

Variant	nsv537821
Chromosome Location	chr5:99104169-99286441
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	ATF2	chr5:99202345-99202916	GM12878	blood:	n/a	n/a
2	ATF2	chr5:99202398-99202877	GM12878	blood:	n/a	n/a
3	BACH1	chr5:99235472-99235650	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr5:99202464-99202849	GM12878	blood:	n/a	n/a
5	BATF	chr5:99202470-99202751	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:99202457-99202760	GM12878	blood:	n/a	n/a
7	BCL3	chr5:99202446-99202818	GM12878	blood:	n/a	n/a
8	BHLHE40	chr5:99202443-99202726	GM12878	blood:	n/a	n/a
9	BRCA1	chr5:99122610-99122760	H1-hESC	embryonic stem cell:	n/a	n/a
10	CBX3	chr5:99235928-99236722	HCT-116	colon:	n/a	n/a
11	CEBPB	chr5:99280745-99280940	H1-hESC	embryonic stem cell:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
12	CEBPB	chr5:99144581-99144899	A549	lung:	n/a	n/a
13	CEBPB	chr5:99209117-99209497	HepG2	liver:	n/a	chr5:99209184-99209197
14	CEBPB	chr5:99275346-99275667	A549	lung:	n/a	chr5:99275488-99275499
15	CEBPB	chr5:99220411-99220575	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr5:99240558-99240601	K562	blood:	n/a	n/a
17	CEBPB	chr5:99202310-99202946	GM12878	blood:	n/a	n/a
18	CEBPB	chr5:99266424-99266615	K562	blood:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
19	CEBPB	chr5:99280572-99280892	A549	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
20	CEBPB	chr5:99275354-99275668	IMR90	lung:	n/a	chr5:99275488-99275499
21	CEBPB	chr5:99275330-99275682	HepG2	liver:	n/a	chr5:99275488-99275499
22	CEBPB	chr5:99266393-99266617	A549	lung:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
23	CEBPB	chr5:99129266-99129373	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr5:99281660-99281902	A549	lung:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
25	CEBPB	chr5:99116549-99116684	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr5:99144593-99144845	HepG2	liver:	n/a	n/a
27	CEBPB	chr5:99122553-99122736	A549	lung:	n/a	n/a
28	CEBPB	chr5:99210500-99210820	HepG2	liver:	n/a	chr5:99210643-99210652 chr5:99210641-99210652 chr5:99210642-99210653 chr5:99210641-99210654
29	CEBPB	chr5:99281714-99281914	HepG2	liver:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
30	CEBPB	chr5:99235842-99236653	HCT-116	colon:	n/a	n/a
31	CEBPB	chr5:99144679-99144917	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr5:99126521-99126722	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr5:99220441-99220630	A549	lung:	n/a	n/a
34	CEBPB	chr5:99275443-99275530	K562	blood:	n/a	chr5:99275488-99275499
35	CEBPB	chr5:99280601-99280858	HepG2	liver:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
36	CEBPB	chr5:99266376-99266641	HepG2	liver:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
37	CEBPB	chr5:99280607-99280936	IMR90	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
38	CEBPZ	chr5:99201452-99201472	HepG2	liver:	n/a	n/a
39	CREB1	chr5:99202372-99202821	GM12878	blood:	n/a	n/a
40	CTCF	chr5:99247680-99247830	RPTEC	kidney:	n/a	n/a
41	CTCF	chr5:99213940-99214318	MCF-7	breast:	n/a	n/a
42	CTCF	chr5:99214033-99214178	LNCaP	prostate:	n/a	n/a
43	CTCF	chr5:99214048-99214166	MCF-7	breast:	n/a	n/a
44	CTCF	chr5:99247800-99247950	BE2_C	brain:	n/a	n/a
45	CTCF	chr5:99247740-99247890	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr5:99247720-99247870	HEK293	kidney:	n/a	n/a
47	CTCF	chr5:99247806-99247866	GM12878	blood:	n/a	n/a
48	CTCF	chr5:99247760-99247910	GM12875	blood:	n/a	n/a
49	CTCF	chr5:99214120-99214270	RPTEC	kidney:	n/a	n/a
50	CTCF	chr5:99247700-99247850	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:99100175..99102793-chr5:99107234..99109956,2	MCF-7	breast:
2	chr5:99279070..99281321-chr9:113352239..113355129,2	MCF-7	breast:
3	chr5:99089940..99092003-chr5:99110491..99113397,2	MCF-7	breast:
4	chr5:99272528..99274253-chr5:99280354..99282185,2	K562	blood:
5	chr5:99141699..99143792-chr5:99151090..99154054,2	MCF-7	breast:
6	chr5:99236316..99237878-chr5:99242234..99244440,2	MCF-7	breast:
7	chr5:99236316..99237878-chr5:99242234..99244440,2	MCF-7	breast:
8	chr5:99141699..99143792-chr5:99151090..99154054,2	MCF-7	breast:
9	chr5:99281632..99283428-chr5:99288358..99290129,2	MCF-7	breast:
10	chr5:99272528..99274253-chr5:99280354..99282185,2	K562	blood:

Variant related genes	Relation type
ENSG00000250391	TF binding region

Extended variants
information (count: 1100 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182788023	chr5:99106410-99106411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570939551	chr5:99106435-99106436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139826066	chr5:99106471-99106472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186379518	chr5:99106500-99106501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs5869873	chr5:99106534-99106535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2369773	chr5:99106569-99106570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535754291	chr5:99106644-99106645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553350134	chr5:99106656-99106657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149928581	chr5:99106701-99106702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145002536	chr5:99106802-99106803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142245508	chr5:99106908-99106909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576081818	chr5:99106924-99106925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146197849	chr5:99106956-99106957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191910668	chr5:99107005-99107006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529152672	chr5:99107018-99107019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72783342	chr5:99107036-99107037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11948059	chr5:99107120-99107121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs527716921	chr5:99107121-99107122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73774085	chr5:99107192-99107193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs35218167	chr5:99107195-99107196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs397998834	chr5:99107197-99107198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114416415	chr5:99107217-99107218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531728110	chr5:99107286-99107287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549921271	chr5:99107343-99107344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1370995	chr5:99107434-99107435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568362656	chr5:99107458-99107459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535737669	chr5:99107504-99107505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141102734	chr5:99107508-99107509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565519339	chr5:99107513-99107514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539394022	chr5:99107630-99107631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113144251	chr5:99107708-99107709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576049904	chr5:99107752-99107753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552405816	chr5:99107823-99107824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537148907	chr5:99107866-99107867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555595841	chr5:99107867-99107868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573919833	chr5:99107870-99107871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111266922	chr5:99107897-99107898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192516171	chr5:99107910-99107911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570668867	chr5:99107924-99107925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111732522	chr5:99107931-99107932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148005909	chr5:99107949-99107950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531646863	chr5:99107955-99107956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1161240	chr5:99107961-99107962	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182702106	chr5:99107975-99107976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529473857	chr5:99108001-99108002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535151683	chr5:99108022-99108023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73774086	chr5:99108038-99108039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73774088	chr5:99108048-99108049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539756568	chr5:99108053-99108054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141685772	chr5:99108089-99108090	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99106400-99107600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr5:99106400-99109400	Enhancers	HUVEC	blood vessel
3	chr5:99106600-99108000	Enhancers	NHEK	skin
4	chr5:99107200-99107600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:99107200-99107600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:99107200-99107600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:99107200-99110600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:99107400-99107800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:99107600-99108000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:99108800-99109600	Enhancers	Fetal Lung	lung
11	chr5:99109800-99110400	Enhancers	Fetal Heart	heart
12	chr5:99129600-99130200	Enhancers	HUVEC	blood vessel
13	chr5:99130000-99131800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:99130200-99131800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:99130400-99131000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:99150000-99150400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:99153600-99159400	Weak transcription	Pancreas	Pancrea
18	chr5:99159400-99159600	ZNF genes & repeats	Pancreas	Pancrea
19	chr5:99161000-99161400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:99161400-99161800	Enhancers	HUVEC	blood vessel
21	chr5:99173400-99173800	Enhancers	Fetal Brain Male	brain
22	chr5:99178600-99178800	Enhancers	Pancreas	Pancrea
23	chr5:99178800-99179000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:99179000-99179200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:99179200-99181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:99191600-99191800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr5:99191600-99192000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr5:99191600-99192200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr5:99235400-99235800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr5:99235400-99236000	Enhancers	HUVEC	blood vessel
31	chr5:99235400-99236800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:99235400-99236800	Enhancers	Fetal Kidney	kidney
33	chr5:99235400-99236800	Enhancers	NHEK	skin
34	chr5:99235400-99237000	Enhancers	Hela-S3	cervix
35	chr5:99235600-99236800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:99235600-99237000	Enhancers	NH-A	brain
37	chr5:99235800-99236000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr5:99236000-99236200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr5:99236000-99236400	Flanking Active TSS	HUVEC	blood vessel
40	chr5:99236200-99236800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr5:99236400-99237200	Enhancers	HUVEC	blood vessel
42	chr5:99236800-99237600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr5:99237000-99237400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:99241400-99242600	Enhancers	Fetal Lung	lung
45	chr5:99243600-99244400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:99247600-99249000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:99248600-99250400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr5:99264200-99264400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:99264400-99265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:99265400-99266000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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