Variant report

Variant	rs7705465
Chromosome Location	chr5:90680949-90680950
allele	A/G
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	RAD21	chr5:90680575-90681054	SK-N-SH_RA	brain:	n/a	chr5:90680823-90680832 chr5:90680814-90680833 chr5:90680901-90680910 chr5:90680892-90680911
2	CTCF	chr5:90680726-90681020	MCF-7	breast:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
3	POLR2A	chr5:90674657-90680962	MCF10A-Er-Src	breast:	n/a	n/a
4	CTCF	chr5:90680840-90680990	HFF	foreskin:	n/a	chr5:90680894-90680912 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910
5	CTCF	chr5:90680820-90680970	GM12866	blood:	n/a	chr5:90680894-90680912 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
6	EP300	chr5:90680351-90681015	GM12878	blood:	n/a	chr5:90680568-90680577
7	FOS	chr5:90679910-90680997	MCF10A-Er-Src	breast:	n/a	chr5:90680565-90680576 chr5:90680569-90680578 chr5:90680567-90680578
8	MYC	chr5:90680678-90681005	K562	blood:	n/a	n/a
9	CTCF	chr5:90680800-90680950	Caco-2	colon:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
10	JUN	chr5:90680588-90681094	K562	blood:	n/a	n/a
11	GATA1	chr5:90675347-90681151	PBDE	blood:	n/a	chr5:90680794-90680801 chr5:90680794-90680803 chr5:90680794-90680801 chr5:90675376-90675387 chr5:90680567-90680576 chr5:90680794-90680801
12	CTCF	chr5:90680800-90680950	HRE	kidney:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
13	CTCF	chr5:90680533-90681104	T-47D	breast:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
14	REST	chr5:90680384-90681074	A549	lung:	n/a	n/a
15	CTCF	chr5:90680800-90680950	SK-N-SH_RA	brain:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
16	CTCF	chr5:90680800-90680950	GM12868	blood:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
17	ARID3A	chr5:90680236-90681148	HepG2	liver:	n/a	n/a
18	CTCF	chr5:90680473-90681134	MCF-7	breast:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
19	CTCF	chr5:90680800-90680950	AG04449	skin:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
20	CTCF	chr5:90680800-90680950	GM12866	blood:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
21	FOS	chr5:90680385-90680998	MCF10A-Er-Src	breast:	n/a	chr5:90680565-90680576 chr5:90680569-90680578 chr5:90680567-90680578
22	CTCF	chr5:90680707-90681026	K562	blood:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
23	CTCF	chr5:90680820-90680970	GM12878	blood:	n/a	chr5:90680894-90680912 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
24	RAD21	chr5:90680544-90681190	MCF-7	breast:	n/a	chr5:90680823-90680832 chr5:90680814-90680833 chr5:90680901-90680910 chr5:90680892-90680911
25	JUND	chr5:90680351-90681036	K562	blood:	n/a	chr5:90680565-90680576 chr5:90680569-90680578
26	POLR2A	chr5:90678204-90681091	PANC-1	pancreas:	n/a	n/a
27	RAD21	chr5:90680651-90681061	A549	lung:	n/a	chr5:90680823-90680832 chr5:90680814-90680833 chr5:90680901-90680910 chr5:90680892-90680911
28	IRF1	chr5:90678324-90681092	K562	blood:	n/a	chr5:90678566-90678576 chr5:90680223-90680240 chr5:90678566-90678580 chr5:90678565-90678577 chr5:90680301-90680311 chr5:90680568-90680577
29	POLR2A	chr5:90674512-90681010	IMR90	lung:	n/a	n/a
30	RAD21	chr5:90680616-90681093	H1-hESC	embryonic stem cell:	n/a	chr5:90680823-90680832 chr5:90680814-90680833 chr5:90680901-90680910 chr5:90680892-90680911
31	CTCF	chr5:90680800-90680950	NHEK	skin:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
32	MAFK	chr5:90680517-90681071	Hela-S3	cervix:	n/a	n/a
33	MYBL2	chr5:90680482-90681075	HepG2	liver:	n/a	n/a
34	CTCF	chr5:90680820-90680970	HUVEC	blood vessel:	n/a	chr5:90680894-90680912 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
35	SMC3	chr5:90678305-90681090	Hela-S3	cervix:	n/a	chr5:90680818-90680832 chr5:90680896-90680910
36	POU2F2	chr5:90680457-90681007	GM12878	blood:	n/a	chr5:90680766-90680777 chr5:90680765-90680775 chr5:90680764-90680776 chr5:90680694-90680708 chr5:90680763-90680778 chr5:90680768-90680781 chr5:90680766-90680776 chr5:90680692-90680706 chr5:90680768-90680781 chr5:90680695-90680706 chr5:90680760-90680782 chr5:90680690-90680712 chr5:90680762-90680775 chr5:90680691-90680704 chr5:90680766-90680775 chr5:90680761-90680782 chr5:90680691-90680704 chr5:90680765-90680775 chr5:90680768-90680781 chr5:90680691-90680704 chr5:90680762-90680780 chr5:90680767-90680774 chr5:90680767-90680775 chr5:90680766-90680777
37	MYC	chr5:90680593-90680979	MCF10A-Er-Src	breast:	n/a	n/a
38	CTCF	chr5:90680595-90681064	H1-hESC	embryonic stem cell:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
39	NFYA	chr5:90680433-90681008	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:90662204-90681025	K562	blood:	n/a	n/a
41	CTCF	chr5:90680820-90680970	HA-sp	spinal cord:	n/a	chr5:90680894-90680912 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
42	CHD1	chr5:90675198-90681229	IMR90	lung:	n/a	chr5:90676000-90676010 chr5:90676134-90676144
43	CTCF	chr5:90680800-90680950	GM12873	blood:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
44	GATA2	chr5:90680728-90680994	SH-SY5Y	brain:	n/a	chr5:90680794-90680801 chr5:90680794-90680803 chr5:90680794-90680801 chr5:90680794-90680801
45	CTCF	chr5:90680800-90680950	GM12872	blood:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
46	CTCF	chr5:90680747-90680999	HepG2	liver:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
47	CTCF	chr5:90680535-90681138	IMR90	lung:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
48	CTCF	chr5:90680662-90681012	H1-hESC	embryonic stem cell:	n/a	chr5:90680894-90680912 chr5:90680811-90680832 chr5:90680816-90680834 chr5:90680901-90680908 chr5:90680895-90680911 chr5:90680889-90680910 chr5:90680822-90680831
49	MAZ	chr5:90680636-90681010	K562	blood:	n/a	n/a
50	RAD21	chr5:90680717-90681031	K562	blood:	n/a	chr5:90680823-90680832 chr5:90680814-90680833 chr5:90680901-90680910 chr5:90680892-90680911

No.	Distal block	Cell Line	Cell type
1	chr5:90397411..90398246-chr5:90680631..90681302,2	MCF-7	breast:
2	chr5:90574103..90582351-chr5:90673173..90681609,28	K562	blood:
3	chr5:90605667..90612137-chr5:90676262..90681561,13	K562	blood:
4	chr5:90397349..90398324-chr5:90680411..90681271,7	MCF-7	breast:
5	chr5:90680462..90681382-chr5:90715128..90715985,2	K562	blood:
6	chr5:90541796..90542359-chr5:90680035..90680971,3	K562	blood:
7	chr5:90161808..90162821-chr5:90680412..90681352,6	K562	blood:
8	chr5:90160809..90161588-chr5:90680384..90681060,3	MCF-7	breast:
9	chr5:90184781..90186579-chr5:90679255..90681231,2	MCF-7	breast:
10	chr5:90574805..90578594-chr5:90673900..90681432,13	MCF-7	breast:
11	chr5:90512455..90524285-chr5:90673793..90683360,52	MCF-7	breast:
12	chr5:90607284..90611861-chr5:90674569..90683045,11	K562	blood:
13	chr5:90521677..90522591-chr5:90680450..90681318,6	MCF-7	breast:
14	chr5:90521115..90522384-chr5:90680284..90681436,9	K562	blood:
15	chr5:90520446..90522907-chr5:90680193..90681317,25	MCF-7	breast:
16	chr5:90607483..90611926-chr5:90672625..90681906,20	MCF-7	breast:
17	chr5:90397347..90398313-chr5:90679537..90681364,7	K562	blood:
18	chr5:90099269..90102186-chr5:90679396..90681079,2	MCF-7	breast:
19	chr5:90228093..90228615-chr5:90680787..90681318,2	MCF-7	breast:
20	chr5:90513004..90513698-chr5:90680513..90681369,2	K562	blood:
21	chr5:90227784..90228309-chr5:90680384..90681178,2	MCF-7	breast:
22	chr5:90512732..90524610-chr5:90674652..90682171,24	K562	blood:
23	chr5:90161908..90162738-chr5:90680698..90681301,5	MCF-7	breast:
24	chr5:90513015..90523645-chr5:90674785..90682171,21	K562	blood:
25	chr5:90515350..90516235-chr5:90680436..90681312,5	MCF-7	breast:
26	chr5:90510244..90526030-chr5:90672528..90682389,53	MCF-7	breast:

Variant related genes	Relation type
ARRDC3	TF binding region
ENSG00000234292	Chromatin interaction
ENSG00000164199	Chromatin interaction
ENSG00000212930	Chromatin interaction
ENSG00000248323	Chromatin interaction
ENSG00000271762	Chromatin interaction
ENSG00000251093	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10041402	0.94[EUR][1000 genomes]
rs10045280	0.91[EUR][1000 genomes]
rs10052492	0.89[EUR][1000 genomes]
rs10054820	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10058025	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10059163	0.94[EUR][1000 genomes]
rs10063683	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10073657	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10073935	0.94[EUR][1000 genomes]
rs1035476	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1035477	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10474352	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10474353	0.94[EUR][1000 genomes]
rs10942634	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11948056	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11948075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950530	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11955120	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11959525	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12110065	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12110303	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12188467	0.86[EUR][1000 genomes]
rs12651840	0.95[EUR][1000 genomes]
rs12654787	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12655973	0.94[EUR][1000 genomes]
rs12656350	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1363839	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1477348	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1477349	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs186717	0.84[EUR][1000 genomes]
rs1895448	0.93[EUR][1000 genomes]
rs1895449	0.92[EUR][1000 genomes]
rs1964292	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1966494	0.92[EUR][1000 genomes]
rs2004483	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2052553	0.95[EUR][1000 genomes]
rs2059207	0.92[EUR][1000 genomes]
rs2059208	0.93[EUR][1000 genomes]
rs2367353	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2367526	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2839728	0.93[EUR][1000 genomes]
rs2887007	0.90[EUR][1000 genomes]
rs332544	0.84[EUR][1000 genomes]
rs35712350	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4382199	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60513756	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6452951	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6452953	0.91[EUR][1000 genomes]
rs6452954	0.92[EUR][1000 genomes]
rs66759971	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6860948	0.97[EUR][1000 genomes]
rs6865495	0.93[EUR][1000 genomes]
rs6866191	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6866923	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6867091	0.92[EUR][1000 genomes]
rs6869048	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6869717	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6882269	0.93[EUR][1000 genomes]
rs746637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7708782	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7715402	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7718871	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7720132	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7720235	0.86[EUR][1000 genomes]
rs889213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9293568	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9686361	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs985434	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90675000-90681000	Active TSS	Thymus	Thymus
2	chr5:90677400-90681000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:90680000-90681000	Active TSS	HepG2	liver
4	chr5:90680000-90682200	Weak transcription	Left Ventricle	heart
5	chr5:90680000-90692800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:90680600-90681000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:90680600-90681400	Weak transcription	HSMMtube	muscle
8	chr5:90680600-90682000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:90680800-90681000	Enhancers	Primary T cells from cord blood	blood
10	chr5:90680800-90681000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:90680800-90681200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:90680800-90681200	Enhancers	Dnd41	blood
13	chr5:90680800-90681800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:90680800-90681800	Weak transcription	Fetal Kidney	kidney
15	chr5:90680800-90681800	Weak transcription	A549	lung
16	chr5:90680800-90681800	Weak transcription	K562	blood
17	chr5:90680800-90681800	Weak transcription	Osteobl	bone
18	chr5:90680800-90682000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:90680800-90682000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:90680800-90682000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:90680800-90682000	Weak transcription	Fetal Heart	heart
22	chr5:90680800-90686000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:90680800-90688200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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