Variant report

Variant	nsv1023557
Chromosome Location	chr5:104392659-104433582
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	BRCA1	chr5:104393511-104393580	GM12878	blood:	n/a	n/a
2	CBX3	chr5:104428357-104428592	K562	blood:	n/a	n/a
3	CBX3	chr5:104393078-104393434	K562	blood:	n/a	n/a
4	CBX3	chr5:104393083-104393385	K562	blood:	n/a	n/a
5	CEBPB	chr5:104423406-104423707	A549	lung:	n/a	chr5:104423566-104423577
6	CEBPB	chr5:104423410-104423746	IMR90	lung:	n/a	chr5:104423566-104423577
7	CEBPB	chr5:104423402-104423724	HepG2	liver:	n/a	chr5:104423566-104423577
8	CEBPB	chr5:104432081-104432193	HepG2	liver:	n/a	n/a
9	CEBPB	chr5:104423448-104423672	K562	blood:	n/a	chr5:104423566-104423577
10	CTCF	chr5:104394548-104394560	LNCaP	prostate:	n/a	n/a
11	E2F4	chr5:104399543-104399743	MCF10A-Er-Src	breast:	n/a	n/a
12	EP300	chr5:104423997-104424069	K562	blood:	n/a	n/a
13	FAM48A	chr5:104424879-104425034	GM12878	blood:	n/a	n/a
14	FOS	chr5:104396813-104397065	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr5:104396893-104396977	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr5:104431025-104431134	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr5:104404784-104404926	SH-SY5Y	brain:	n/a	n/a
18	JUND	chr5:104430917-104431144	HepG2	liver:	n/a	chr5:104431059-104431070
19	KAP1	chr5:104393188-104393315	K562	blood:	n/a	n/a
20	KAP1	chr5:104429053-104429459	HEK293	kidney:	n/a	n/a
21	KAP1	chr5:104392925-104393528	HEK293	kidney:	n/a	n/a
22	KAP1	chr5:104428118-104428909	K562	blood:	n/a	n/a
23	MAX	chr5:104409793-104410041	NB4	blood:	n/a	chr5:104409875-104409885 chr5:104409899-104409909
24	MYC	chr5:104392771-104392968	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr5:104392906-104393068	MCF-7	breast:	n/a	n/a
26	NRF1	chr5:104409970-104409999	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:104429392-104429480	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr5:104423537-104423595	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr5:104417823-104417884	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr5:104392771-104393167	MCF-7	breast:	n/a	n/a
31	POLR2A	chr5:104425552-104425649	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr5:104416922-104416943	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr5:104396168-104396211	A549	lung:	n/a	n/a
34	POLR2A	chr5:104393875-104393939	Gliobla	brain:	n/a	n/a
35	POLR2A	chr5:104392747-104392761	A549	lung:	n/a	n/a
36	POLR2A	chr5:104393949-104393957	Gliobla	brain:	n/a	n/a
37	POLR2A	chr5:104407972-104408150	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr5:104393090-104393091	MCF-7	breast:	n/a	n/a
39	POLR2A	chr5:104392804-104393088	MCF-7	breast:	n/a	n/a
40	POLR2A	chr5:104396144-104396229	MCF-7	breast:	n/a	n/a
41	POLR2A	chr5:104392789-104392875	A549	lung:	n/a	n/a
42	POLR2A	chr5:104393847-104393860	MCF-7	breast:	n/a	n/a
43	POLR2A	chr5:104408006-104408284	H1-neurons	neurons:	n/a	n/a
44	RFX5	chr5:104397930-104397995	K562	blood:	n/a	n/a
45	RFX5	chr5:104423869-104423944	HepG2	liver:	n/a	n/a
46	SETDB1	chr5:104393101-104393410	U2OS	brain:	n/a	n/a
47	SETDB1	chr5:104428936-104429626	U2OS	brain:	n/a	n/a
48	SETDB1	chr5:104392932-104393586	K562	blood:	n/a	n/a
49	STAT3	chr5:104423319-104423358	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr5:104421925-104422093	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:104423554..104425423-chr5:104426738..104428780,3	K562	blood:
2	chr5:104423554..104425423-chr5:104426738..104428780,3	K562	blood:

Variant related genes	Relation type
RAB9BP1	TF binding region

Extended variants
information (count: 465 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:465 , 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	rs530945157	chr5:104392664-104392665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs193226105	chr5:104392670-104392671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183910147	chr5:104392715-104392716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs187726858	chr5:104392792-104392793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs549120769	chr5:104392795-104392796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs148881836	chr5:104392800-104392801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs531906484	chr5:104392816-104392817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs565580506	chr5:104392819-104392820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs6896153	chr5:104392822-104392823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs534504498	chr5:104392825-104392826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs550041440	chr5:104392835-104392836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs78823672	chr5:104392839-104392840	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571408055	chr5:104392841-104392842	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs537062215	chr5:104392843-104392844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs556655254	chr5:104392872-104392873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371664138	chr5:104392881-104392882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs538193218	chr5:104392923-104392924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs573656356	chr5:104392944-104392945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs536386814	chr5:104392956-104392957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538849081	chr5:104392976-104392977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs558178622	chr5:104392988-104392989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs143478325	chr5:104392997-104392998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs114935586	chr5:104393051-104393052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs545231553	chr5:104393056-104393057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs565588179	chr5:104393096-104393097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs551501397	chr5:104393123-104393124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs370768040	chr5:104393150-104393151	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs148003374	chr5:104393159-104393160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs530030445	chr5:104393174-104393175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546738277	chr5:104393176-104393177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs141696841	chr5:104393210-104393211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs528277521	chr5:104393264-104393265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79213225	chr5:104393301-104393302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs571537474	chr5:104393359-104393360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs191251767	chr5:104393363-104393364	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs550835992	chr5:104393379-104393380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs147139069	chr5:104393390-104393391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs536209422	chr5:104393399-104393400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs553114120	chr5:104393476-104393477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs540580666	chr5:104393519-104393520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs566538687	chr5:104393556-104393557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs138690037	chr5:104393617-104393618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs11951866	chr5:104393648-104393649	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575781346	chr5:104393649-104393650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574126483	chr5:104393718-104393719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554841989	chr5:104393747-104393748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574492979	chr5:104393748-104393749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs143269605	chr5:104393764-104393765	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs560226894	chr5:104393773-104393774	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs541927136	chr5:104393780-104393781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
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
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
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
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104392400-104393200	ZNF genes & repeats	Esophagus	oesophagus
2	chr5:104392400-104394000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:104392400-104394000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:104392400-104394000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:104398800-104402000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:104421400-104421600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:104421600-104422200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:104422400-104422600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:104422600-104423600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:104423600-104425000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:104424000-104424400	Enhancers	Primary hematopoietic stem cells	blood
12	chr5:104425000-104428000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:104428000-104428200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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