Variant report

Variant	rs1311616
Chromosome Location	chr4:100012303-100012304
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:100012171-100012330	MCF10A-Er-Src	breast:	n/a	n/a
2	EBF1	chr4:100012290-100012799	GM12878	blood:	n/a	n/a
3	CUX1	chr4:100012064-100012373	K562	blood:	n/a	n/a
4	ELK1	chr4:100012086-100012433	K562	blood:	n/a	n/a
5	ZNF384	chr4:100012243-100012538	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:100010805..100012670-chr4:100870311..100872681,2	K562	blood:
2	chr4:100010072..100012637-chr4:100483853..100485997,3	K562	blood:
3	chr4:100008800..100012914-chr4:100866380..100869813,4	K562	blood:
4	chr4:99848192..99852255-chr4:100007586..100012546,7	K562	blood:
5	chr4:100008800..100013313-chr4:100866380..100869813,5	K562	blood:

No data

Variant related genes	Relation type
ADH5	TF binding region
ENSG00000138823	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000145331	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000164031	Chromatin interaction

Extended variants
information (count: 213 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:207)

rs_ID	r²[population]
rs10017466	0.84[CEU][hapmap];0.86[GIH][hapmap];0.85[TSI][hapmap]
rs1042364	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs1042365	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs1126670	0.84[CEU][hapmap];0.86[GIH][hapmap];0.85[TSI][hapmap]
rs1126671	0.84[CEU][hapmap];0.86[GIH][hapmap];0.85[TSI][hapmap]
rs1126672	0.92[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs1126673	0.84[CEU][hapmap];0.86[GIH][hapmap];0.85[TSI][hapmap]
rs1133485	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1154400	0.86[GIH][hapmap];0.84[MEX][hapmap];0.81[TSI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1154405	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][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];0.84[EUR][1000 genomes]
rs1154410	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1154411	0.85[AFR][1000 genomes]
rs1230154	0.83[CEU][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs1230164	0.86[GIH][hapmap];0.84[MEX][hapmap]
rs12502237	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12506256	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13102874	0.83[AMR][1000 genomes]
rs13110176	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13110764	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13112176	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13112733	0.83[AMR][1000 genomes]
rs13113166	0.83[CEU][hapmap];0.83[AMR][1000 genomes]
rs1311615	0.96[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1311617	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1311618	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1311619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1311620	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13125919	0.88[LWK][hapmap];0.82[YRI][hapmap]
rs13127153	0.83[AMR][1000 genomes]
rs13127582	0.83[AMR][1000 genomes]
rs13129488	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13132999	0.82[AMR][1000 genomes]
rs13133633	0.83[AMR][1000 genomes]
rs13133647	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13138294	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13140423	0.83[AMR][1000 genomes]
rs13143133	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs13145727	0.82[YRI][hapmap]
rs13146416	0.81[AFR][1000 genomes]
rs1377689	0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1453872	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1453873	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1453874	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17217949	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17218003	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs17218073	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17218108	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs17218141	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17218162	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17218239	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17218288	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs17218560	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes]
rs17218602	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs17817359	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17817868	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs17817958	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs1803037	0.88[LWK][hapmap];0.82[YRI][hapmap]
rs1840228	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1840229	0.83[AMR][1000 genomes]
rs1840230	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1840231	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1901922	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1984362	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs1984364	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs2034696	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2213035	0.83[AMR][1000 genomes]
rs2602837	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2602840	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2602842	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2602845	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602846	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602847	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602851	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602853	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602854	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602855	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602857	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602858	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602859	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602865	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2602866	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2602870	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2602872	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602873	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2602876	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2602877	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602878	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2602881	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2602882	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2602883	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2602888	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2602891	0.86[AMR][1000 genomes]
rs2602893	0.83[AMR][1000 genomes]
rs2602894	0.83[AMR][1000 genomes]
rs2602895	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs2602896	0.91[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes]
rs2602897	0.82[AMR][1000 genomes]
rs2851246	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes]
rs2851247	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes]
rs2851248	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[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];0.82[EUR][1000 genomes]
rs2851256	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2851257	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2851260	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2851261	0.85[EUR][1000 genomes]
rs2851263	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851265	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2851266	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2851267	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2851268	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851269	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851272	0.90[EUR][1000 genomes]
rs2851277	0.95[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851278	0.96[CEU][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851279	0.83[AMR][1000 genomes]
rs2851280	0.81[EUR][1000 genomes]
rs2851282	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2851283	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2851284	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2851286	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.92[CEU][hapmap];0.92[GIH][hapmap];0.94[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];0.96[EUR][1000 genomes]
rs2924583	0.83[AMR][1000 genomes]
rs2924586	0.81[EUR][1000 genomes]
rs3018046	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3018047	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3018048	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]
rs3100629	0.92[AMR][1000 genomes]
rs3100630	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3133152	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3133153	0.84[EUR][1000 genomes]
rs34071486	0.83[AMR][1000 genomes]
rs34360292	0.83[AMR][1000 genomes]
rs34634551	0.83[AMR][1000 genomes]
rs34805407	0.83[AMR][1000 genomes]
rs34876213	0.83[AMR][1000 genomes]
rs34936974	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs35073321	0.83[AMR][1000 genomes]
rs35361391	0.83[AMR][1000 genomes]
rs35491981	0.83[AMR][1000 genomes]
rs35662508	0.83[AMR][1000 genomes]
rs35784540	0.83[AMR][1000 genomes]
rs35988291	0.83[AMR][1000 genomes]
rs36034266	0.83[AMR][1000 genomes]
rs3919370	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs4235436	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4699701	0.81[AFR][1000 genomes]
rs4699712	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs4699713	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs4699714	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs4699716	0.83[CEU][hapmap];0.82[LWK][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes]
rs4699717	0.87[CEU][hapmap];1.00[GIH][hapmap];0.94[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]
rs6532779	0.87[EUR][1000 genomes]
rs6532780	0.82[EUR][1000 genomes]
rs6532798	0.84[CEU][hapmap];0.86[GIH][hapmap];0.85[TSI][hapmap]
rs67311928	0.83[AMR][1000 genomes]
rs6813415	0.83[AMR][1000 genomes]
rs6822830	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6831225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6837685	0.84[CEU][hapmap];0.86[GIH][hapmap];0.85[TSI][hapmap]
rs7434491	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs7669636	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs7670060	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs7670241	0.92[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes]
rs7670638	0.86[CEU][hapmap];0.83[AMR][1000 genomes]
rs7672728	0.83[AMR][1000 genomes]
rs7683802	0.81[AFR][1000 genomes]
rs7684986	0.88[LWK][hapmap];0.82[YRI][hapmap]
rs7689753	0.81[CEU][hapmap];0.83[AMR][1000 genomes]
rs7694646	0.95[CEU][hapmap];0.83[AMR][1000 genomes]
rs9761048	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	esv1849572	chr4:100007243-100024396	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1311616	ADH5	cis	Whole Blood	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100006600-100012400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:100006800-100012400	Active TSS	NHLF	lung
3	chr4:100007400-100012400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr4:100007400-100012600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr4:100007800-100013400	Active TSS	K562	blood
6	chr4:100008000-100012400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:100008400-100012400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:100008400-100012400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:100008600-100012800	Active TSS	Ovary	ovary
10	chr4:100009400-100012800	Active TSS	Stomach Smooth Muscle	stomach
11	chr4:100010000-100012400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:100010000-100012400	Active TSS	Aorta	Aorta
13	chr4:100011000-100012600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:100011000-100012800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:100011200-100012400	Weak transcription	Small Intestine	intestine
16	chr4:100011200-100012600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr4:100011200-100012600	Active TSS	Fetal Brain Male	brain
18	chr4:100011200-100012600	Flanking Active TSS	NH-A	brain
19	chr4:100011200-100012800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:100011200-100012800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr4:100011200-100012800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:100011200-100012800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:100011200-100013600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr4:100011400-100012400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:100011400-100012600	Enhancers	Fetal Muscle Leg	muscle
26	chr4:100011400-100012800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr4:100011400-100012800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr4:100011400-100012800	Enhancers	Adipose Nuclei	Adipose
29	chr4:100011400-100012800	Enhancers	Fetal Intestine Large	intestine
30	chr4:100011400-100012800	Enhancers	Fetal Stomach	stomach
31	chr4:100011400-100012800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:100011400-100013600	Enhancers	Colon Smooth Muscle	Colon
33	chr4:100011400-100025800	Weak transcription	Esophagus	oesophagus
34	chr4:100011600-100012600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:100011600-100012800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:100011600-100012800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:100011600-100025600	Weak transcription	Primary T cells from cord blood	blood
38	chr4:100011800-100012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:100011800-100012600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:100011800-100012800	Flanking Active TSS	Fetal Lung	lung
41	chr4:100011800-100020600	Weak transcription	Fetal Intestine Small	intestine
42	chr4:100012000-100012400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr4:100012000-100012400	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr4:100012000-100012400	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr4:100012000-100012400	Enhancers	Fetal Thymus	thymus
46	chr4:100012000-100012600	Enhancers	NHDF-Ad	bronchial
47	chr4:100012000-100012800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:100012000-100012800	Enhancers	Thymus	Thymus
49	chr4:100012000-100012800	Flanking Active TSS	HepG2	liver
50	chr4:100012000-100012800	Flanking Active TSS	HMEC	breast

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