Variant report

Variant	rs13082859
Chromosome Location	chr3:48344675-48344676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:48341816-48344787	Raji	blood:	n/a	n/a
2	POLR2A	chr3:48344198-48345103	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:48344105-48344989	HCT-116	colon:	n/a	n/a
4	POLR2A	chr3:48344480-48344784	K562	blood:	n/a	n/a
5	POLR2A	chr3:48341346-48344772	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:48343915-48344797	HCT-116	colon:	n/a	n/a
7	MTA3	chr3:48341098-48344793	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:48343905-48345066	K562	blood:	n/a	n/a
9	POLR2A	chr3:48343835-48344895	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr3:48344150-48344756	HCT-116	colon:	n/a	n/a
11	POLR2A	chr3:48344527-48344760	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr3:48344563-48344695	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr3:48344133-48344794	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr3:48343796-48345018	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr3:48344101-48344727	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr3:48344331-48344766	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:48344169-48344798	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr3:48344295-48344723	SK-N-SH	brain:	n/a	n/a
19	GTF2F1	chr3:48344653-48344953	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr3:48344094-48344771	K562	blood:	n/a	n/a
21	POLR2A	chr3:48341295-48344884	GM12891	blood:	n/a	n/a
22	POLR2A	chr3:48344106-48344761	PANC-1	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:48343201..48345959-chr3:48358674..48361429,2	MCF-7	breast:
2	chr3:48342864..48345435-chr3:48356461..48358274,2	K562	blood:
3	chr3:48342750..48344803-chr3:48480393..48482278,2	MCF-7	breast:
4	chr3:48343538..48345224-chr3:48461566..48463266,2	MCF-7	breast:

No data

Variant related genes	Relation type
NME6	TF binding region
ENSG00000232112	Chromatin interaction
ENSG00000252466	Chromatin interaction
ENSG00000164051	Chromatin interaction

Extended variants
information (count: 155 )
Associated
traits (count: 39 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs1045482	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs11130162	0.83[EUR][1000 genomes]
rs11130163	0.83[EUR][1000 genomes]
rs11130164	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1134867	0.84[EUR][1000 genomes]
rs11706221	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11706277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707606	0.84[EUR][1000 genomes]
rs11707997	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11709691	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11710257	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710861	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes]
rs11713476	0.85[EUR][1000 genomes]
rs11714176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714944	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715776	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11715799	0.92[EUR][1000 genomes]
rs11715876	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11716371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11716848	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717716	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11718329	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes]
rs11718350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719365	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11928691	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12486935	1.00[JPT][hapmap]
rs12486944	0.91[JPT][hapmap]
rs13059037	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13060020	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13061269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066044	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13066758	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13067450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13068265	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13068288	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13069029	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13070210	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13071960	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13072018	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13079728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13081169	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13081633	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13082158	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13084616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13085251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13087050	0.92[JPT][hapmap];1.00[YRI][hapmap]
rs13087929	0.84[EUR][1000 genomes]
rs13090538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13094727	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13095983	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13097450	0.94[EUR][1000 genomes]
rs13100815	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17647717	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17786132	0.89[EUR][1000 genomes]
rs2125482	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2361685	0.84[EUR][1000 genomes]
rs2541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3197223	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34076262	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34225441	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34523942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34589064	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34630841	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34728236	0.93[EUR][1000 genomes]
rs34749846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34946886	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35190747	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35297395	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35297486	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35411187	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35414021	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35456569	0.89[EUR][1000 genomes]
rs35778847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35802497	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35944878	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36020562	0.92[EUR][1000 genomes]
rs36064160	0.84[EUR][1000 genomes]
rs36075665	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36092070	0.97[EUR][1000 genomes]
rs36121690	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3729577	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes]
rs3731487	0.84[EUR][1000 genomes]
rs3731489	0.84[EUR][1000 genomes]
rs3731497	0.84[EUR][1000 genomes]
rs3731513	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes]
rs3731515	0.84[EUR][1000 genomes]
rs3731534	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs3731550	0.83[EUR][1000 genomes]
rs3731555	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes]
rs3937	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4130522	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4130995	0.83[EUR][1000 genomes]
rs4131361	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4131362	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4371540	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4392440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4404473	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4420898	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4479622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4511915	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4511916	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4541431	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4619808	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4632568	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442110	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs6442111	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6775179	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6782166	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787500	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs6791930	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6793150	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793223	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793239	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6794644	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6796343	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6796490	0.84[CEU][hapmap]
rs6800492	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6801801	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6804986	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806112	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs71323391	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71323394	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71323395	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71323396	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71323397	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs745116	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[EUR][1000 genomes]
rs7614532	0.96[EUR][1000 genomes]
rs7619865	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs7621785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7624450	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632297	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636461	0.94[EUR][1000 genomes]
rs7644414	0.84[EUR][1000 genomes]
rs7645425	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7647817	0.84[EUR][1000 genomes]
rs7648720	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7652233	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653152	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653336	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9311421	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs936426	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes]
rs936427	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9818937	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9819094	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9825637	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9830016	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9831531	0.84[EUR][1000 genomes]
rs9833309	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9834095	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9837228	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9846818	0.81[EUR][1000 genomes]
rs9847953	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9850672	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[EUR][1000 genomes]
rs9853804	0.97[EUR][1000 genomes];0.88[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	nsv834683	chr3:48301504-48493261	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:39)

SNP	Gene	Cis/trans	Tissue	Source
rs13082859	ZNF589	cis	Skin Sun Exposed Lower leg	GTEx
rs13082859	MRPS18AP1	cis	Thyroid	GTEx
rs13082859	SPINK8	cis	Whole Blood	GTEx
rs13082859	NME6	cis	Muscle Skeletal	GTEx
rs13082859	ZNF589	cis	Thyroid	GTEx
rs13082859	NME6	cis	Nerve Tibial	GTEx
rs13082859	MRPS18AP1	cis	Artery Tibial	GTEx
rs13082859	MRPS18AP1	cis	Esophagus Mucosa	GTEx
rs13082859	MRPS18AP1	cis	Esophagus Muscularis	GTEx
rs13082859	NME6	cis	Artery Tibial	GTEx
rs13082859	NME6	Cis_1M	lymphoblastoid	RTeQTL
rs13082859	ZNF589	cis	Stomach	GTEx
rs13082859	MRPS18AP1	cis	Stomach	GTEx
rs13082859	ZNF589	cis	Brain Pons	GTEx
rs13082859	ZNF589	cis	Adipose Subcutaneous	GTEx
rs13082859	ZNF589	cis	Artery Aorta	GTEx
rs13082859	FCF1P2	cis	Artery Tibial	GTEx
rs13082859	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs13082859	MRPS18AP1	cis	Artery Aorta	GTEx
rs13082859	ZNF589	cis	lung	GTEx
rs13082859	NME6	cis	Esophagus Muscularis	GTEx
rs13082859	MRPS18AP1	cis	lung	GTEx
rs13082859	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs13082859	CDC25A	cis	Muscle Skeletal	GTEx
rs13082859	NME6	cis	multi-tissue	Pritchard
rs13082859	CDC25A	cis	Adipose Subcutaneous	GTEx
rs13082859	MRPS18AP1	cis	Heart Left Ventricle	GTEx
rs13082859	ZNF589	cis	Nerve Tibial	GTEx
rs13082859	ZNF589	cis	Esophagus Muscularis	GTEx
rs13082859	CDC25A	cis	Artery Tibial	GTEx
rs13082859	CDC25A	cis	Thyroid	GTEx
rs13082859	ZNF589	cis	Artery Tibial	GTEx
rs13082859	MRPS18AP1	cis	Adipose Subcutaneous	GTEx
rs13082859	NME6	cis	Skin Sun Exposed Lower leg	GTEx
rs13082859	ZNF589	Cis_1M	lymphoblastoid	RTeQTL
rs13082859	MRPS18AP1	cis	Skin Sun Exposed Lower leg	GTEx
rs13082859	ZNF589	cis	Cerebellum	GTEx
rs13082859	ZNF589	cis	Esophagus Mucosa	GTEx
rs13082859	MRPS18AP1	cis	Nerve Tibial	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48343600-48344800	Enhancers	Fetal Heart	heart
2	chr3:48343600-48344800	Enhancers	Placenta	Placenta
3	chr3:48343800-48344800	Weak transcription	Fetal Lung	lung
4	chr3:48343800-48345600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:48343800-48345800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:48343800-48346400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:48343800-48346800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:48343800-48346800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:48344000-48344800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr3:48344000-48345400	Weak transcription	NH-A	brain
11	chr3:48344000-48345800	Weak transcription	Fetal Intestine Small	intestine
12	chr3:48344000-48346000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:48344000-48346600	Weak transcription	Fetal Brain Female	brain
14	chr3:48344000-48347600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr3:48344000-48347800	Weak transcription	Primary B cells from cord blood	blood
16	chr3:48344000-48348000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr3:48344000-48348000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:48344000-48348200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:48344000-48348200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr3:48344200-48347000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:48344200-48348000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:48344200-48348000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr3:48344400-48344800	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr3:48344600-48344800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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