Variant report

Variant	nsv830423
Chromosome Location	chr5:99167031-99352588
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	chr5:99202470-99202751	GM12878	blood:	n/a	n/a
5	BATF	chr5:99202464-99202849	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	CBX3	chr5:99235928-99236722	HCT-116	colon:	n/a	n/a
10	CEBPB	chr5:99275330-99275682	HepG2	liver:	n/a	chr5:99275488-99275499
11	CEBPB	chr5:99266393-99266617	A549	lung:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
12	CEBPB	chr5:99210500-99210820	HepG2	liver:	n/a	chr5:99210643-99210652 chr5:99210641-99210652 chr5:99210642-99210653 chr5:99210641-99210654
13	CEBPB	chr5:99287763-99288089	IMR90	lung:	n/a	chr5:99287911-99287922
14	CEBPB	chr5:99281660-99281902	A549	lung:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
15	CEBPB	chr5:99240558-99240601	K562	blood:	n/a	n/a
16	CEBPB	chr5:99280572-99280892	A549	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
17	CEBPB	chr5:99281714-99281914	HepG2	liver:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
18	CEBPB	chr5:99235842-99236653	HCT-116	colon:	n/a	n/a
19	CEBPB	chr5:99220411-99220575	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr5:99220441-99220630	A549	lung:	n/a	n/a
21	CEBPB	chr5:99287769-99288059	HepG2	liver:	n/a	chr5:99287911-99287922
22	CEBPB	chr5:99280607-99280936	IMR90	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
23	CEBPB	chr5:99280601-99280858	HepG2	liver:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
24	CEBPB	chr5:99280745-99280940	H1-hESC	embryonic stem cell:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
25	CEBPB	chr5:99266376-99266641	HepG2	liver:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
26	CEBPB	chr5:99266424-99266615	K562	blood:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
27	CEBPB	chr5:99275354-99275668	IMR90	lung:	n/a	chr5:99275488-99275499
28	CEBPB	chr5:99287782-99288036	A549	lung:	n/a	chr5:99287911-99287922
29	CEBPB	chr5:99275346-99275667	A549	lung:	n/a	chr5:99275488-99275499
30	CEBPB	chr5:99275443-99275530	K562	blood:	n/a	chr5:99275488-99275499
31	CEBPB	chr5:99202310-99202946	GM12878	blood:	n/a	n/a
32	CEBPB	chr5:99209117-99209497	HepG2	liver:	n/a	chr5:99209184-99209197
33	CEBPZ	chr5:99201452-99201472	HepG2	liver:	n/a	n/a
34	CREB1	chr5:99202372-99202821	GM12878	blood:	n/a	n/a
35	CTCF	chr5:99214060-99214134	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr5:99247860-99248010	GM06990	blood:	n/a	n/a
37	CTCF	chr5:99214033-99214178	LNCaP	prostate:	n/a	n/a
38	CTCF	chr5:99323932-99323950	IMR90	lung:	n/a	n/a
39	CTCF	chr5:99214040-99214190	RPTEC	kidney:	n/a	n/a
40	CTCF	chr5:99247720-99247870	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr5:99247640-99247790	BE2_C	brain:	n/a	n/a
42	CTCF	chr5:99214120-99214270	RPTEC	kidney:	n/a	n/a
43	CTCF	chr5:99287120-99287270	GM12864	blood:	n/a	n/a
44	CTCF	chr5:99247780-99247930	GM12866	blood:	n/a	n/a
45	CTCF	chr5:99247840-99247990	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr5:99247721-99247816	LNCaP	prostate:	n/a	n/a
47	CTCF	chr5:99247740-99247890	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr5:99214113-99214137	GM12878	blood:	n/a	n/a
49	CTCF	chr5:99247760-99247910	RPTEC	kidney:	n/a	n/a
50	CTCF	chr5:99247609-99248048	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:99281632..99283428-chr5:99288358..99290129,2	MCF-7	breast:
2	chr5:99236316..99237878-chr5:99242234..99244440,2	MCF-7	breast:
3	chr5:99336948..99339437-chr5:99341088..99343626,2	K562	blood:
4	chr5:99236316..99237878-chr5:99242234..99244440,2	MCF-7	breast:
5	chr5:99272528..99274253-chr5:99280354..99282185,2	K562	blood:
6	chr5:99336948..99339437-chr5:99341088..99343626,2	K562	blood:
7	chr5:99279070..99281321-chr9:113352239..113355129,2	MCF-7	breast:
8	chr5:99272528..99274253-chr5:99280354..99282185,2	K562	blood:
9	chr5:99281632..99283428-chr5:99288358..99290129,2	MCF-7	breast:

Variant related genes	Relation type
EEF1A1P20	TF binding region
ENSG00000250391	TF binding region
ENSG00000199378	TF binding region

Extended variants
information (count: 1204 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1204 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534101517	chr5:99173429-99173430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528345844	chr5:99173436-99173437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546923788	chr5:99173450-99173451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77555420	chr5:99173457-99173458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116030196	chr5:99173567-99173568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200831017	chr5:99173569-99173570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376035667	chr5:99173570-99173571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199797956	chr5:99173588-99173589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533412655	chr5:99173606-99173607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141723715	chr5:99173607-99173608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77445414	chr5:99173620-99173621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35929329	chr5:99173628-99173629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570168821	chr5:99173633-99173634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369369785	chr5:99173640-99173641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537164318	chr5:99173682-99173683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549138443	chr5:99173709-99173710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567524522	chr5:99173732-99173733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534947308	chr5:99173753-99173754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553297099	chr5:99173763-99173764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574987157	chr5:99173764-99173765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577543932	chr5:99173766-99173767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200280204	chr5:99173768-99173769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149273660	chr5:99173769-99173770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376394004	chr5:99173770-99173771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111262036	chr5:99173771-99173772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545311084	chr5:99173774-99173775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199974807	chr5:99173783-99173784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534633794	chr5:99173786-99173787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201167098	chr5:99173787-99173788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2123806	chr5:99173792-99173793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs386690451	chr5:99173800-99173801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191390590	chr5:99178623-99178624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182149238	chr5:99178638-99178639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566119057	chr5:99178641-99178642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540058004	chr5:99178651-99178652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558083310	chr5:99178672-99178673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370869888	chr5:99178676-99178677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188453857	chr5:99178721-99178722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78457652	chr5:99178754-99178755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142764496	chr5:99178764-99178765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370035926	chr5:99178827-99178828	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs540727758	chr5:99178835-99178836	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559430296	chr5:99178861-99178862	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs577748495	chr5:99178883-99178884	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs73147893	chr5:99178891-99178892	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs563340422	chr5:99178936-99178937	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs530783655	chr5:99178948-99178949	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147500894	chr5:99178964-99178965	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs192714440	chr5:99178975-99178976	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs115130392	chr5:99179020-99179021	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Schizophrenia	20967226	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99173400-99173800	Enhancers	Fetal Brain Male	brain
2	chr5:99178600-99178800	Enhancers	Pancreas	Pancrea
3	chr5:99178800-99179000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:99179000-99179200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:99179200-99181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:99191600-99191800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr5:99191600-99192000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr5:99191600-99192200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr5:99235400-99235800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:99235400-99236000	Enhancers	HUVEC	blood vessel
11	chr5:99235400-99236800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:99235400-99236800	Enhancers	Fetal Kidney	kidney
13	chr5:99235400-99236800	Enhancers	NHEK	skin
14	chr5:99235400-99237000	Enhancers	Hela-S3	cervix
15	chr5:99235600-99236800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:99235600-99237000	Enhancers	NH-A	brain
17	chr5:99235800-99236000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr5:99236000-99236200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:99236000-99236400	Flanking Active TSS	HUVEC	blood vessel
20	chr5:99236200-99236800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr5:99236400-99237200	Enhancers	HUVEC	blood vessel
22	chr5:99236800-99237600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:99237000-99237400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:99241400-99242600	Enhancers	Fetal Lung	lung
25	chr5:99243600-99244400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:99247600-99249000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:99248600-99250400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr5:99264200-99264400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:99264400-99265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:99265400-99266000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:99265600-99265800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:99281400-99282000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr5:99286000-99286200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:99286000-99287200	Enhancers	Spleen	Spleen
35	chr5:99286200-99293400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:99303400-99304000	Enhancers	HUVEC	blood vessel
37	chr5:99305800-99309200	Weak transcription	Fetal Lung	lung
38	chr5:99309200-99309400	Enhancers	Fetal Lung	lung
39	chr5:99311000-99311400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:99311400-99312600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:99312600-99313000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:99340200-99341200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:99340200-99341200	Enhancers	NHEK	skin
44	chr5:99345200-99345400	ZNF genes & repeats	Gastric	stomach
45	chr5:99351000-99353200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:99351200-99351400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:99351400-99353200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:99351600-99352600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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