Variant report

Variant	rs61703239
Chromosome Location	chr6:28694814-28694815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr6:28694633-28695062	A549	lung:	n/a	n/a
2	TBP	chr6:28694738-28695103	K562	blood:	n/a	n/a
3	EP300	chr6:28694752-28695131	GM12878	blood:	n/a	n/a
4	ATF3	chr6:28694596-28695147	K562	blood:	n/a	n/a
5	ARID3A	chr6:28693225-28696326	K562	blood:	n/a	chr6:28693710-28693726
6	CEBPB	chr6:28694618-28694906	HepG2	liver:	n/a	chr6:28694764-28694775
7	CUX1	chr6:28694803-28695126	K562	blood:	n/a	n/a
8	TEAD4	chr6:28694604-28696040	K562	blood:	n/a	n/a
9	RPC155	chr6:28694711-28695069	K562	blood:	n/a	n/a
10	GTF3C2	chr6:28694678-28695057	K562	blood:	n/a	n/a
11	BACH1	chr6:28694812-28694820	K562	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28693617..28695446-chr6:28910054..28912139,2	K562	blood:
2	chr6:28692707..28694832-chr6:28724756..28727492,3	K562	blood:
3	chr6:28691994..28695396-chr6:28761030..28763739,3	K562	blood:
4	chr6:28694596..28696864-chr6:28727942..28730829,2	K562	blood:
5	chr6:28693274..28695982-chr6:28860211..28863205,2	K562	blood:
6	chr6:28694465..28699409-chr6:28701823..28706376,12	K562	blood:
7	chr6:28694415..28696951-chr6:28906885..28909854,2	K562	blood:
8	chr6:28582658..28585156-chr6:28692576..28695191,2	K562	blood:
9	chr6:28649222..28651616-chr6:28694274..28696265,2	MCF-7	breast:
10	chr6:28694600..28696603-chr6:28717973..28720482,2	K562	blood:
11	chr6:28694799..28697435-chr6:28950609..28952532,2	K562	blood:
12	chr6:28693769..28696400-chr6:28804513..28806706,3	K562	blood:
13	chr6:27859745..27862203-chr6:28694070..28696885,3	K562	blood:
14	chr6:28693500..28696718-chr6:28743195..28744760,3	K562	blood:
15	chr6:28692512..28694882-chr6:28831386..28833136,2	K562	blood:
16	chr6:28690825..28693776-chr6:28694018..28695886,2	MCF-7	breast:
17	chr6:28693622..28696352-chr6:28828631..28830226,2	K562	blood:
18	chr6:28693863..28696096-chr6:28729329..28732311,2	K562	blood:

No data

Variant related genes	Relation type
RPSAP2	TF binding region
ENSG00000196331	Chromatin interaction
ENSG00000232040	Chromatin interaction
ENSG00000225595	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000213916	Chromatin interaction
ENSG00000204709	Chromatin interaction
ENSG00000221191	Chromatin interaction
ENSG00000233224	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10498733	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1107160	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1233582	0.81[ASN][1000 genomes]
rs17280797	1.00[AFR][1000 genomes]
rs17280818	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17281186	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17346574	0.82[AFR][1000 genomes]
rs17398081	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1891757	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1936180	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3999045	0.84[AMR][1000 genomes]
rs55641015	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55659253	0.90[AMR][1000 genomes]
rs55764335	0.90[AMR][1000 genomes]
rs55891766	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs56003969	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56098960	0.90[AMR][1000 genomes]
rs56165011	0.90[AMR][1000 genomes]
rs56296645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56384403	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57170714	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57693980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57748269	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57791058	0.90[AMR][1000 genomes]
rs57965355	0.90[AMR][1000 genomes]
rs58104924	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs58238888	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58258185	0.90[AMR][1000 genomes]
rs58288624	0.90[EUR][1000 genomes]
rs59233561	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59475656	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59959723	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs60252686	0.90[AMR][1000 genomes]
rs60311527	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61094745	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs61208746	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61657599	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6901325	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6905871	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6906105	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6906506	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6909960	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6916286	0.86[AMR][1000 genomes]
rs6923795	0.90[AMR][1000 genomes]
rs7738101	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7742889	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7748319	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7751451	0.90[AMR][1000 genomes]
rs7751884	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7754365	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7755641	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7758798	0.90[AMR][1000 genomes]
rs7760656	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7765829	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7766599	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7772111	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7772373	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7772482	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7772682	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9688414	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9767343	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9767359	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28693600-28696200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:28693800-28696200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:28694200-28697800	Active TSS	K562	blood
4	chr6:28694400-28695400	Weak transcription	A549	lung

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