Variant report

Variant	rs3018048
Chromosome Location	chr4:100005538-100005539
allele	C/T
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	POLR2A	chr4:100005336-100005726	HepG2	liver:	n/a	n/a
2	POLR2A	chr4:100004731-100006168	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:100005035-100006268	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:100004956-100005712	K562	blood:	n/a	n/a
5	POLR2A	chr4:100005190-100005641	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:100005493-100005625	K562	blood:	n/a	n/a
7	HEY1	chr4:100005178-100005927	HepG2	liver:	n/a	chr4:100005187-100005196
8	POLR2A	chr4:100005444-100005594	HepG2	liver:	n/a	n/a
9	STAT3	chr4:100005502-100005829	MCF10A-Er-Src	breast:	n/a	chr4:100005648-100005659 chr4:100005669-100005680
10	POLR2A	chr4:100005332-100005559	H1-hESC	embryonic stem cell:	n/a	n/a
11	STAT3	chr4:100005502-100005700	MCF10A-Er-Src	breast:	n/a	chr4:100005648-100005659 chr4:100005669-100005680
12	POLR2A	chr4:100005368-100005602	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr4:100005068-100005609	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr4:100005207-100005693	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr4:100005089-100005653	GM12878	blood:	n/a	n/a
16	STAT3	chr4:100005500-100005702	MCF10A-Er-Src	breast:	n/a	chr4:100005648-100005659 chr4:100005669-100005680
17	POLR2A	chr4:100004049-100006136	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99916814..99918708-chr4:100004523..100006516,2	MCF-7	breast:

Variant related genes	Relation type
ADH5	TF binding region
ENSG00000246090	TF binding region
ENSG00000265213	Chromatin interaction
ENSG00000164024	Chromatin interaction

Extended variants
information (count: 258 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:253)

rs_ID	r²[population]
rs10017466	0.88[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap]
rs1042364	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs1042365	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs1126670	0.88[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap]
rs1126671	0.88[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap]
rs1126672	0.96[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs1126673	0.88[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap]
rs1133485	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1154400	0.81[CEU][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1154405	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1154406	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1154407	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1154410	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1154411	0.85[AFR][1000 genomes]
rs1154412	1.00[ASN][1000 genomes]
rs11722494	1.00[ASN][1000 genomes]
rs11727079	1.00[ASN][1000 genomes]
rs11727086	1.00[ASN][1000 genomes]
rs11731092	1.00[ASN][1000 genomes]
rs11735758	1.00[ASN][1000 genomes]
rs11736580	1.00[ASN][1000 genomes]
rs1230154	0.87[CEU][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap]
rs1230164	0.86[GIH][hapmap];0.84[MEX][hapmap]
rs12502237	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12506256	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13102874	0.83[AMR][1000 genomes]
rs13107184	1.00[ASN][1000 genomes]
rs13107892	1.00[ASN][1000 genomes]
rs13110176	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13110764	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13110878	1.00[ASN][1000 genomes]
rs13112176	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13112733	0.83[AMR][1000 genomes]
rs13113166	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs13115072	1.00[ASN][1000 genomes]
rs13115688	1.00[ASN][1000 genomes]
rs1311615	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1311616	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1311617	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1311618	0.86[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1311619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1311620	0.80[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13119035	0.82[LWK][hapmap]
rs13124855	1.00[ASN][1000 genomes]
rs13125919	0.94[LWK][hapmap];0.82[YRI][hapmap]
rs13127153	0.83[AMR][1000 genomes]
rs13127259	1.00[ASN][1000 genomes]
rs13127582	0.83[AMR][1000 genomes]
rs13129488	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13130454	1.00[ASN][1000 genomes]
rs13132999	0.82[AMR][1000 genomes]
rs13133633	0.83[AMR][1000 genomes]
rs13133647	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13133934	1.00[ASN][1000 genomes]
rs13138294	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13140423	0.83[AMR][1000 genomes]
rs13143133	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13145727	0.82[YRI][hapmap]
rs13146416	0.82[LWK][hapmap];0.81[AFR][1000 genomes]
rs1377689	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13832	1.00[ASN][1000 genomes]
rs1453872	0.84[AMR][1000 genomes]
rs1453873	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1453874	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17217949	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17218003	0.96[CEU][hapmap];0.83[AMR][1000 genomes]
rs17218073	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17218108	0.96[CEU][hapmap];0.83[AMR][1000 genomes]
rs17218141	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17218162	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17218239	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17218288	0.96[CEU][hapmap];0.83[AMR][1000 genomes]
rs17218560	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes]
rs17218602	0.95[CEU][hapmap];0.83[AMR][1000 genomes]
rs17511498	1.00[ASN][1000 genomes]
rs17570252	1.00[ASN][1000 genomes]
rs17583053	1.00[ASN][1000 genomes]
rs17595424	0.82[LWK][hapmap]
rs17817359	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17817868	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17817958	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs1803037	0.94[LWK][hapmap];0.82[YRI][hapmap]
rs1840228	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1840229	0.83[AMR][1000 genomes]
rs1840230	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1840231	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1901922	0.83[AMR][1000 genomes]
rs1984362	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs1984364	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs1992569	1.00[ASN][1000 genomes]
rs2004994	1.00[ASN][1000 genomes]
rs2034696	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2213035	0.83[AMR][1000 genomes]
rs2230574	1.00[ASN][1000 genomes]
rs2602837	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2602840	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602842	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2602845	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2602846	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2602847	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2602851	0.83[AMR][1000 genomes]
rs2602853	0.83[AMR][1000 genomes]
rs2602854	0.83[AMR][1000 genomes]
rs2602855	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2602857	0.83[AMR][1000 genomes]
rs2602858	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2602859	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2602865	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602866	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602870	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2602872	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2602873	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2602876	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2602877	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2602878	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2602881	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602882	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2602883	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602888	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602891	0.86[AMR][1000 genomes]
rs2602893	0.83[AMR][1000 genomes]
rs2602894	0.83[AMR][1000 genomes]
rs2602895	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs2602896	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes]
rs2602897	0.82[AMR][1000 genomes]
rs2851246	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes]
rs2851247	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes]
rs2851248	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs2851249	0.83[AMR][1000 genomes]
rs2851252	0.85[AMR][1000 genomes]
rs2851253	0.86[AMR][1000 genomes]
rs2851255	0.86[AMR][1000 genomes]
rs2851256	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2851257	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2851260	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2851261	0.83[EUR][1000 genomes]
rs2851263	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2851265	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2851266	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2851267	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2851268	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2851269	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2851272	0.88[EUR][1000 genomes]
rs2851277	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2851278	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2851279	0.83[AMR][1000 genomes]
rs2851282	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2851283	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2851284	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2851286	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28730592	0.81[AFR][1000 genomes]
rs28730595	0.81[AFR][1000 genomes]
rs28730605	0.81[AFR][1000 genomes]
rs28987088	0.83[AMR][1000 genomes]
rs28987097	0.83[AMR][1000 genomes]
rs28987098	0.83[AMR][1000 genomes]
rs28987100	0.83[AMR][1000 genomes]
rs28987101	0.83[AMR][1000 genomes]
rs28987102	0.83[AMR][1000 genomes]
rs29001183	0.83[AMR][1000 genomes]
rs29001194	0.83[AMR][1000 genomes]
rs29001195	0.83[AMR][1000 genomes]
rs29001199	0.82[AMR][1000 genomes]
rs29001201	0.82[AMR][1000 genomes]
rs29001202	0.83[AMR][1000 genomes]
rs29001203	0.96[CEU][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs29001208	0.83[AMR][1000 genomes]
rs29001209	0.83[AMR][1000 genomes]
rs29001211	0.83[AMR][1000 genomes]
rs29001212	0.83[AMR][1000 genomes]
rs29001214	0.83[AMR][1000 genomes]
rs29001215	0.83[AMR][1000 genomes]
rs29001216	0.83[AMR][1000 genomes]
rs29001223	0.83[AMR][1000 genomes]
rs29001224	0.83[AMR][1000 genomes]
rs29001229	0.83[AMR][1000 genomes]
rs29001231	0.82[AMR][1000 genomes]
rs29001232	0.82[AMR][1000 genomes]
rs2924580	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2924583	0.83[AMR][1000 genomes]
rs3018046	0.83[AMR][1000 genomes]
rs3018047	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3100629	0.92[AMR][1000 genomes]
rs3100630	0.83[AMR][1000 genomes]
rs3133152	0.83[AMR][1000 genomes]
rs3133153	0.83[EUR][1000 genomes]
rs34071486	0.83[AMR][1000 genomes]
rs34116542	1.00[ASN][1000 genomes]
rs34164768	1.00[ASN][1000 genomes]
rs34360292	0.83[AMR][1000 genomes]
rs34445885	1.00[ASN][1000 genomes]
rs34552530	1.00[ASN][1000 genomes]
rs34634551	0.83[AMR][1000 genomes]
rs34805407	0.83[AMR][1000 genomes]
rs34849916	1.00[ASN][1000 genomes]
rs34876213	0.83[AMR][1000 genomes]
rs34936974	0.96[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs35019647	1.00[ASN][1000 genomes]
rs35073321	0.83[AMR][1000 genomes]
rs35360485	1.00[ASN][1000 genomes]
rs35361391	0.83[AMR][1000 genomes]
rs35491981	0.83[AMR][1000 genomes]
rs35619083	1.00[ASN][1000 genomes]
rs35662508	0.83[AMR][1000 genomes]
rs35784540	0.83[AMR][1000 genomes]
rs35885444	1.00[ASN][1000 genomes]
rs35988291	0.83[AMR][1000 genomes]
rs36034266	0.83[AMR][1000 genomes]
rs36061550	1.00[ASN][1000 genomes]
rs3919370	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs4235436	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4699369	1.00[ASN][1000 genomes]
rs4699689	1.00[ASN][1000 genomes]
rs4699692	1.00[ASN][1000 genomes]
rs4699701	0.81[AFR][1000 genomes]
rs4699712	0.96[CEU][hapmap];0.82[AMR][1000 genomes]
rs4699713	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs4699714	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs4699716	0.87[CEU][hapmap];0.88[LWK][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes]
rs4699717	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes]
rs4699718	0.83[AMR][1000 genomes]
rs56222233	0.83[AMR][1000 genomes]
rs56272995	0.82[AMR][1000 genomes]
rs56295995	0.82[AMR][1000 genomes]
rs62323189	1.00[ASN][1000 genomes]
rs62323190	1.00[ASN][1000 genomes]
rs62323206	1.00[ASN][1000 genomes]
rs6532779	0.85[EUR][1000 genomes]
rs6532780	0.81[EUR][1000 genomes]
rs6532798	0.88[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap]
rs67311928	0.83[AMR][1000 genomes]
rs67650226	1.00[ASN][1000 genomes]
rs6813415	0.83[AMR][1000 genomes]
rs6822830	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6831225	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6837685	0.88[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap]
rs6852848	0.82[LWK][hapmap]
rs72692635	1.00[ASN][1000 genomes]
rs7434491	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs7662987	0.82[LWK][hapmap]
rs7669636	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs7670060	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs7670241	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs7670638	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs7672728	0.83[AMR][1000 genomes]
rs7683802	0.82[LWK][hapmap];0.81[AFR][1000 genomes]
rs7684986	0.94[LWK][hapmap];0.82[YRI][hapmap]
rs7688221	1.00[ASN][1000 genomes]
rs7688461	1.00[ASN][1000 genomes]
rs7689753	0.86[CEU][hapmap];0.83[AMR][1000 genomes]
rs7694646	0.95[CEU][hapmap];0.83[AMR][1000 genomes]
rs896992	1.00[ASN][1000 genomes]
rs9761048	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3018048	ADH5	cis	parietal	SCAN
rs3018048	ADH5	cis	cerebellum	SCAN
rs3018048	ADH5	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99977600-100008400	Weak transcription	Stomach Mucosa	stomach
2	chr4:99977800-100009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:99978000-100007800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:99983200-100008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:99985600-100006600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr4:99987200-100006600	Strong transcription	HSMM	muscle
7	chr4:99987200-100008000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:99987400-100007600	Strong transcription	Fetal Thymus	thymus
9	chr4:99987600-100006000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:99987600-100006600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:99987800-100006800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:99987800-100007000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:99988000-100006800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:99988000-100007000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:99988200-100006400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:99988400-100007000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:99989000-100006600	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr4:99989000-100006800	Strong transcription	Primary T cells from cord blood	blood
19	chr4:99989400-100007400	Strong transcription	HMEC	breast
20	chr4:99989600-100007000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:99990400-100005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:99990400-100006400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr4:99990600-100007200	Strong transcription	Osteobl	bone
24	chr4:99990600-100007400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:99990800-100007000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:99991000-100006200	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr4:99991200-100006000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:99991200-100006800	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr4:99991200-100007000	Strong transcription	Primary B cells from cord blood	blood
30	chr4:99991200-100007400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:99991200-100007400	Strong transcription	NHDF-Ad	bronchial
32	chr4:99991400-100006600	Strong transcription	Fetal Intestine Large	intestine
33	chr4:99991400-100006800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr4:99991400-100006800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr4:99991400-100007000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:99991400-100007000	Strong transcription	Thymus	Thymus
37	chr4:99991400-100007000	Strong transcription	HUVEC	blood vessel
38	chr4:99991400-100007400	Strong transcription	Fetal Lung	lung
39	chr4:99991600-100006600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:99991600-100006800	Strong transcription	K562	blood
41	chr4:99991600-100007000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:99992400-100006400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:99992400-100007200	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr4:99992400-100007200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:99992400-100007200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:99992600-100007000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr4:99992800-100006800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:99994200-100006200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr4:99994600-100007400	Strong transcription	Fetal Muscle Leg	muscle
50	chr4:99994800-100005800	Strong transcription	Fetal Brain Female	brain

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Variant report

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