Variant report

Variant	rs1230649
Chromosome Location	chr1:114244177-114244178
allele	A/C
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	YY1	chr1:114244132-114244390	H1-hESC	embryonic stem cell:	n/a	n/a
2	SPI1	chr1:114244087-114244318	K562	blood:	n/a	chr1:114244181-114244194 chr1:114244184-114244193
3	SPI1	chr1:114244084-114244341	GM12878	blood:	n/a	chr1:114244181-114244194 chr1:114244184-114244193
4	YY1	chr1:114244115-114244421	H1-hESC	embryonic stem cell:	n/a	n/a
5	SPI1	chr1:114244076-114244306	GM12891	blood:	n/a	chr1:114244181-114244194 chr1:114244184-114244193
6	SPI1	chr1:114243947-114244429	HL-60	blood:	n/a	chr1:114244181-114244194 chr1:114244184-114244193
7	SPI1	chr1:114244033-114244276	K562	blood:	n/a	chr1:114244181-114244194 chr1:114244184-114244193
8	SPI1	chr1:114244065-114244338	GM12891	blood:	n/a	chr1:114244181-114244194 chr1:114244184-114244193
9	JUND	chr1:114244139-114244474	H1-hESC	embryonic stem cell:	n/a	n/a
10	ELF1	chr1:114244044-114244412	K562	blood:	n/a	chr1:114244182-114244193 chr1:114244181-114244194
11	SPI1	chr1:114244016-114244418	HL-60	blood:	n/a	chr1:114244181-114244194 chr1:114244184-114244193

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114240356..114244592-chr1:114247076..114250656,5	K562	blood:
2	chr1:114242321..114244665-chr7:108476146..108478634,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232450	TF binding region
ENSG00000116793	Chromatin interaction

Extended variants
information (count: 155 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10745339	0.82[ASW][hapmap];0.82[CEU][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs10858000	0.82[ASW][hapmap];0.82[CEU][hapmap];0.91[GIH][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs10858005	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs10858007	0.82[ASW][hapmap];0.82[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs10858008	0.82[ASW][hapmap];0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs10858011	0.82[ASW][hapmap];0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs10858017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10858018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10858019	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10858021	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11102648	0.81[EUR][1000 genomes]
rs11102652	0.82[ASW][hapmap];0.82[CEU][hapmap];0.94[GIH][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs11102653	0.84[EUR][1000 genomes]
rs11102654	0.81[CHB][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs11102657	0.83[EUR][1000 genomes]
rs11102661	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11102669	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11102691	0.82[ASW][hapmap];0.95[CEU][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs1113523	0.82[CEU][hapmap];0.86[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs1146182	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1146187	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12035317	0.82[ASW][hapmap];0.82[CEU][hapmap];0.94[GIH][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs12037873	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs12041547	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12044534	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12060836	1.00[YRI][hapmap]
rs12061482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12063216	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12069381	1.00[YRI][hapmap]
rs12071676	1.00[YRI][hapmap]
rs12074958	0.82[ASW][hapmap];0.82[CEU][hapmap];0.94[GIH][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs12077419	0.84[EUR][1000 genomes]
rs12094790	1.00[YRI][hapmap]
rs1217192	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1217193	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1217199	0.81[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs1217200	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1217201	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs1217203	0.85[EUR][1000 genomes]
rs1217204	0.85[EUR][1000 genomes]
rs1217208	0.84[EUR][1000 genomes]
rs1217210	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1217211	0.82[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs1217214	0.84[EUR][1000 genomes]
rs1217215	0.84[EUR][1000 genomes]
rs1217223	0.85[EUR][1000 genomes]
rs1217226	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs1217227	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs1217228	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs1217230	0.84[EUR][1000 genomes]
rs1217232	0.85[EUR][1000 genomes]
rs1217233	0.85[EUR][1000 genomes]
rs1217234	0.82[CEU][hapmap];0.81[CHB][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs1217235	0.82[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs1217236	0.82[CEU][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs1217237	0.85[EUR][1000 genomes]
rs1217376	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217377	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217380	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217386	0.86[ASN][1000 genomes]
rs1217388	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217389	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217395	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217396	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217407	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217410	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1217412	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1217413	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1217415	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap]
rs1217416	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1217421	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1228280	0.81[EUR][1000 genomes]
rs1230637	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230638	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1230639	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1230640	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230642	0.91[ASN][1000 genomes]
rs1230645	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230646	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230647	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230655	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1230656	0.89[EUR][1000 genomes]
rs1230658	0.84[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1230659	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1230661	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs1230663	0.93[EUR][1000 genomes]
rs1230671	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1230674	0.91[EUR][1000 genomes]
rs1230678	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1230679	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1230683	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1230685	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230687	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1235687	0.85[EUR][1000 genomes]
rs1235688	0.85[EUR][1000 genomes]
rs1237289	0.82[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs1237682	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12565589	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12566340	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs12760067	0.85[ASN][1000 genomes]
rs1343125	0.82[ASW][hapmap];0.82[CEU][hapmap];0.97[GIH][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs1343128	0.82[ASW][hapmap];0.85[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.86[LWK][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs1418958	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs1599971	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17013326	0.82[ASW][hapmap];0.81[CEU][hapmap];0.91[GIH][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs17031716	0.86[CHB][hapmap]
rs1743605	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1746853	0.81[CHB][hapmap]
rs1775754	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1777234	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1777237	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1777238	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1777241	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1935838	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1936398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981319	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093436	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2243471	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2295853	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359167	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2488457	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs2488458	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2636002	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2636013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2636014	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797408	0.93[EUR][1000 genomes]
rs2797409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2797412	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2798135	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2798138	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2884703	0.83[EUR][1000 genomes]
rs4145859	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4423005	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4456089	0.82[ASW][hapmap];0.82[CEU][hapmap];0.91[GIH][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs4565712	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4600045	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838997	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4838998	0.87[ASN][1000 genomes]
rs4839335	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61817589	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61820160	0.82[EUR][1000 genomes]
rs6537792	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6537795	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6663679	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689879	0.81[CHB][hapmap]
rs6698586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704188	0.81[CHB][hapmap];0.83[MEX][hapmap]
rs72687980	0.84[EUR][1000 genomes]
rs7526209	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7529353	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs7536360	0.82[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs7553188	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9429730	1.00[CEU][hapmap];0.85[YRI][hapmap];0.86[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	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1230649	CAPZA1	cis	parietal	SCAN
rs1230649	PHTF1	cis	parietal	SCAN
rs1230649	MAGI3	cis	cerebellum	SCAN
rs1230649	PHTF1	cis	cerebellum	SCAN
rs1230649	BCL2L15	cis	cerebellum	SCAN
rs1230649	MAGI3	cis	parietal	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
2	chr1:114216000-114247000	Weak transcription	HMEC	breast
3	chr1:114216200-114279800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:114216400-114250400	Weak transcription	Placenta	Placenta
5	chr1:114220400-114263800	Weak transcription	Fetal Kidney	kidney
6	chr1:114227000-114268200	Weak transcription	NHLF	lung
7	chr1:114227400-114252000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:114228000-114287800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:114228400-114249800	Weak transcription	Hela-S3	cervix
10	chr1:114231000-114251200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:114233200-114245000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:114236400-114300000	Weak transcription	Small Intestine	intestine
13	chr1:114237400-114256600	Weak transcription	Colonic Mucosa	Colon
14	chr1:114238000-114251400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:114238000-114252800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:114238000-114258200	Weak transcription	Fetal Heart	heart
17	chr1:114238200-114250200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:114238200-114252200	Weak transcription	Fetal Brain Female	brain
19	chr1:114238200-114256000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:114238200-114264400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:114238400-114244400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:114238400-114266800	Weak transcription	NHEK	skin
23	chr1:114238800-114251000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:114238800-114252400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:114238800-114252800	Weak transcription	Fetal Intestine Large	intestine
26	chr1:114238800-114252800	Weak transcription	K562	blood
27	chr1:114239000-114244200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:114239000-114260400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:114239200-114279800	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:114239400-114258600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:114239600-114244200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:114239600-114244400	Strong transcription	GM12878-XiMat	blood
33	chr1:114239600-114245400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:114239600-114249800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:114239800-114244200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:114239800-114244200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:114239800-114250800	Weak transcription	HepG2	liver
38	chr1:114240200-114260800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:114240200-114279400	Weak transcription	Psoas Muscle	Psoas
40	chr1:114242000-114244200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:114242000-114244800	Weak transcription	Primary B cells from cord blood	blood
42	chr1:114242000-114247000	Weak transcription	NH-A	brain
43	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:114242200-114245000	Weak transcription	Osteobl	bone
45	chr1:114242200-114246600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:114242200-114246600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:114242200-114246800	Weak transcription	Adipose Nuclei	Adipose
48	chr1:114242200-114246800	Weak transcription	Liver	Liver
49	chr1:114242200-114247200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:114242200-114247600	Weak transcription	Fetal Stomach	stomach

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