Variant report

Variant	rs4274104
Chromosome Location	chr1:46217941-46217942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:46217927-46218437	K562	blood:	n/a	n/a
2	EP300	chr1:46217877-46219726	K562	blood:	n/a	n/a
3	TEAD4	chr1:46217882-46218793	HepG2	liver:	n/a	n/a
4	MAFK	chr1:46217712-46218326	HepG2	liver:	n/a	n/a
5	MYC	chr1:46217802-46218350	K562	blood:	n/a	n/a
6	MAFK	chr1:46217765-46218159	Hela-S3	cervix:	n/a	n/a
7	ARID3A	chr1:46217849-46218734	HepG2	liver:	n/a	n/a
8	IRF1	chr1:46217910-46218038	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46149977..46154848-chr1:46211592..46220262,26	K562	blood:
2	chr1:46162572..46164263-chr1:46216730..46218266,2	K562	blood:
3	chr1:46216677..46220436-chr1:46232703..46236378,4	K562	blood:
4	chr1:46213556..46220443-chr1:46266629..46271737,8	K562	blood:
5	chr1:46216147..46217963-chr1:46486997..46489050,2	MCF-7	breast:
6	chr1:46150194..46156123-chr1:46211510..46222859,25	K562	blood:
7	chr1:46215876..46219394-chr1:46266629..46270801,6	K562	blood:
8	chr1:46217664..46220133-chr1:46344829..46347460,2	K562	blood:
9	chr1:46216570..46222815-chr1:46224414..46229889,7	K562	blood:
10	chr1:46211470..46213214-chr1:46217609..46219595,2	K562	blood:
11	chr1:46211582..46213293-chr1:46216678..46219405,2	MCF-7	breast:
12	chr1:46216566..46218068-chr1:46223422..46225042,2	K562	blood:

No data

Variant related genes	Relation type
IPP	TF binding region
ENSG00000159596	Chromatin interaction
ENSG00000230896	Chromatin interaction
ENSG00000197429	Chromatin interaction
ENSG00000086015	Chromatin interaction
ENSG00000159592	Chromatin interaction

Extended variants
information (count: 270 )
Associated
traits (count: 30 )

rSNPs within LD-proxies of this variant (count:242)

rs_ID	r²[population]
rs10157795	0.96[ASN][1000 genomes]
rs10430105	0.97[CHD][hapmap]
rs10430123	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10430124	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10749856	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10749860	0.82[AMR][1000 genomes]
rs10789467	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10789468	0.90[ASN][1000 genomes]
rs10789470	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10789471	0.92[CHD][hapmap]
rs10789481	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs1084086	0.90[CHD][hapmap]
rs10890333	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10890336	0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10890337	0.90[ASN][1000 genomes]
rs10890343	0.90[ASN][1000 genomes]
rs10890344	0.93[ASN][1000 genomes]
rs10890346	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10890347	0.82[CHD][hapmap]
rs10890352	0.84[AMR][1000 genomes]
rs10890354	0.84[CEU][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs10890361	0.94[ASW][hapmap];0.81[CEU][hapmap];0.82[CHD][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs10890363	0.94[ASW][hapmap];0.84[CEU][hapmap];0.82[CHD][hapmap];0.83[LWK][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap]
rs11211145	0.92[CHD][hapmap]
rs11211149	0.80[CHB][hapmap]
rs11211151	0.88[ASN][1000 genomes]
rs11211152	0.92[CHD][hapmap]
rs11211157	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11211158	0.90[ASN][1000 genomes]
rs11211159	0.90[ASN][1000 genomes]
rs11211161	0.97[CHD][hapmap]
rs11211163	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11211165	0.90[ASN][1000 genomes]
rs11211166	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11211168	0.92[CHD][hapmap]
rs11211169	0.82[CHB][hapmap];0.97[CHD][hapmap]
rs11211171	0.92[CHD][hapmap]
rs11211173	0.92[CHD][hapmap]
rs11211174	0.97[ASN][1000 genomes]
rs11211175	0.97[ASN][1000 genomes]
rs11211176	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11211177	0.92[CHD][hapmap]
rs11211178	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs11211179	0.96[ASN][1000 genomes]
rs11211181	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs11211188	0.85[AMR][1000 genomes]
rs11211189	0.86[AMR][1000 genomes]
rs11211197	0.82[AMR][1000 genomes]
rs11211198	0.84[AMR][1000 genomes]
rs11211199	0.83[CEU][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes]
rs11211203	0.82[AMR][1000 genomes]
rs11211208	0.84[CEU][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs11211213	0.84[CEU][hapmap];0.82[AMR][1000 genomes]
rs11211230	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs11587650	0.81[EUR][1000 genomes]
rs12022141	0.87[ASN][1000 genomes]
rs12024590	0.92[CHD][hapmap]
rs12025621	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12027345	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12031182	0.97[ASN][1000 genomes]
rs12032115	0.82[AMR][1000 genomes]
rs12037803	0.90[ASN][1000 genomes]
rs12043945	0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12045096	0.88[ASN][1000 genomes]
rs12045165	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12049027	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12069121	0.91[ASN][1000 genomes]
rs12091503	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12139630	0.83[CEU][hapmap];0.81[YRI][hapmap]
rs12144263	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs12404197	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12409773	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs12411269	0.86[AMR][1000 genomes]
rs1250	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12561806	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs12564201	0.96[ASN][1000 genomes]
rs12564541	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs12565042	0.81[AMR][1000 genomes]
rs12739439	0.82[AMR][1000 genomes]
rs1541131	0.84[ASN][1000 genomes]
rs1547924	0.86[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1547925	0.97[CHD][hapmap]
rs1972410	0.92[CHD][hapmap]
rs2050376	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2088102	0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap]
rs2152078	0.92[CHD][hapmap]
rs2230657	0.92[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs2230658	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2230659	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2253862	0.97[CHD][hapmap]
rs2275085	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2275086	0.97[CHD][hapmap]
rs28361459	0.91[ASN][1000 genomes]
rs28370457	0.92[CHD][hapmap]
rs28375469	0.82[CHB][hapmap];0.97[CHD][hapmap];0.81[ASN][1000 genomes]
rs28376548	0.87[ASN][1000 genomes]
rs28378621	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28396194	0.81[ASN][1000 genomes]
rs28406914	0.97[ASN][1000 genomes]
rs28432365	0.97[ASN][1000 genomes]
rs28438704	0.93[ASN][1000 genomes]
rs28442079	0.93[ASN][1000 genomes]
rs28456069	0.90[ASN][1000 genomes]
rs28474773	0.97[ASN][1000 genomes]
rs28490344	0.97[ASN][1000 genomes]
rs28495425	0.97[ASN][1000 genomes]
rs28498557	0.95[ASN][1000 genomes]
rs28501477	0.96[ASN][1000 genomes]
rs28507722	0.81[ASN][1000 genomes]
rs28508523	0.83[ASN][1000 genomes]
rs28513660	0.81[ASN][1000 genomes]
rs28528139	0.90[ASN][1000 genomes]
rs28545085	0.81[ASN][1000 genomes]
rs28550303	0.82[CHB][hapmap];0.97[CHD][hapmap];0.81[ASN][1000 genomes]
rs28564319	0.97[ASN][1000 genomes]
rs28617418	0.91[ASN][1000 genomes]
rs28635845	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28641748	0.97[ASN][1000 genomes]
rs28647556	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28683093	0.90[ASN][1000 genomes]
rs28719889	0.92[CHD][hapmap]
rs28752166	0.81[ASN][1000 genomes]
rs28789495	0.97[ASN][1000 genomes]
rs28817701	0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs28844317	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28890893	0.92[CHD][hapmap]
rs2934857	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs2991975	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs2991979	0.92[CHD][hapmap]
rs2991985	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2991986	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2991987	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2991988	0.97[CHD][hapmap]
rs2993263	0.82[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap]
rs3013594	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3013595	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3013596	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3013597	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3014210	0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs3014216	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap]
rs3014218	0.88[ASW][hapmap];0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap]
rs3014236	0.85[ASN][1000 genomes]
rs3014237	0.92[CHD][hapmap]
rs3014238	0.89[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3014239	0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3014241	0.92[CHD][hapmap]
rs3014242	0.86[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap]
rs3014243	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3014245	0.97[CHD][hapmap]
rs3014247	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3014251	0.81[ASN][1000 genomes]
rs34895634	0.94[ASN][1000 genomes]
rs3811435	0.90[ASN][1000 genomes]
rs3811436	0.97[CHD][hapmap]
rs3935296	0.97[ASN][1000 genomes]
rs4330955	0.94[ASN][1000 genomes]
rs4353138	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4376778	0.84[CEU][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes]
rs4391704	0.92[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes]
rs4423054	0.97[ASN][1000 genomes]
rs4431884	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4439382	0.97[CHD][hapmap]
rs4457512	0.81[AMR][1000 genomes]
rs4468203	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4545281	0.89[ASW][hapmap];0.84[CEU][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap]
rs4559551	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4564187	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4579700	0.82[AMR][1000 genomes]
rs4609469	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4626927	0.88[ASW][hapmap];0.92[CEU][hapmap];0.82[CHD][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.87[TSI][hapmap]
rs4660312	1.00[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4660313	0.92[CHD][hapmap]
rs4660314	0.96[ASN][1000 genomes]
rs4660317	0.82[AMR][1000 genomes]
rs4660319	0.83[ASW][hapmap];0.84[CEU][hapmap];0.82[CHD][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs4660321	0.82[YRI][hapmap]
rs4660322	0.84[CEU][hapmap];0.81[YRI][hapmap]
rs4660879	0.82[ASN][1000 genomes]
rs4660880	0.92[CHD][hapmap]
rs4660882	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4660883	0.91[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs4660885	0.88[CEU][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5021934	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs518216	0.90[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs56177313	0.96[ASN][1000 genomes]
rs56255771	0.96[ASN][1000 genomes]
rs59916372	0.96[ASN][1000 genomes]
rs61062981	0.81[ASN][1000 genomes]
rs61783200	0.82[AMR][1000 genomes]
rs61783220	0.82[AMR][1000 genomes]
rs61784796	0.91[ASN][1000 genomes]
rs61784800	0.96[ASN][1000 genomes]
rs61784803	0.97[ASN][1000 genomes]
rs61784824	0.89[ASN][1000 genomes]
rs61784833	0.94[ASN][1000 genomes]
rs6429574	0.90[ASN][1000 genomes]
rs6429575	0.90[ASN][1000 genomes]
rs6429576	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6429582	0.83[ASW][hapmap];0.84[CEU][hapmap];0.82[CHD][hapmap];0.82[LWK][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs6656279	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6656992	0.84[CEU][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs6658700	0.97[CHD][hapmap]
rs6661163	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6661910	0.84[AMR][1000 genomes]
rs6665808	0.91[ASN][1000 genomes]
rs6666743	0.80[CEU][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes]
rs6669522	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs6671802	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6672898	0.84[AMR][1000 genomes]
rs6675946	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs6677007	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs6680211	0.81[AMR][1000 genomes]
rs6680380	0.84[CEU][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes]
rs6683500	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6686134	0.94[ASW][hapmap];0.84[CEU][hapmap];0.83[LWK][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap]
rs6686944	0.86[ASN][1000 genomes]
rs6688365	0.84[CEU][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs6690926	0.90[ASN][1000 genomes]
rs6694340	0.80[CEU][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes]
rs6695809	0.84[AMR][1000 genomes]
rs6697557	0.82[AMR][1000 genomes]
rs6697821	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6698247	0.84[CEU][hapmap];0.81[YRI][hapmap]
rs6699418	0.85[ASN][1000 genomes]
rs6700597	0.80[YRI][hapmap];0.84[AMR][1000 genomes]
rs6701614	0.84[CEU][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes]
rs6703960	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72688483	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7519900	0.96[ASN][1000 genomes]
rs7520123	0.96[ASN][1000 genomes]
rs7524495	0.94[ASW][hapmap];0.84[CEU][hapmap];0.82[CHD][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes]
rs7526532	0.81[AMR][1000 genomes]
rs7526678	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs7539932	0.84[AMR][1000 genomes]
rs7540325	0.81[AMR][1000 genomes]
rs7540578	0.82[CHD][hapmap]
rs7540699	0.82[AMR][1000 genomes]
rs7556436	0.94[ASW][hapmap];0.84[CEU][hapmap];0.82[CHD][hapmap];0.83[LWK][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap]
rs8179296	0.90[ASN][1000 genomes]
rs8179402	0.90[ASN][1000 genomes]
rs9787208	0.81[AMR][1000 genomes]
rs9793568	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
2	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv1010054	chr1:46144479-46320493	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv1006861	chr1:46144479-46417621	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
9	nsv1003049	chr1:46144479-46476149	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	nsv870511	chr1:46148138-46245423	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
11	nsv871233	chr1:46153203-46311275	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	nsv1008219	chr1:46160098-46493958	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	nsv534943	chr1:46160098-46493958	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
14	nsv1000498	chr1:46171836-46438252	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
15	nsv870791	chr1:46182916-46398415	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv871023	chr1:46184300-46301182	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
17	nsv998925	chr1:46184925-46353041	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
18	nsv1003986	chr1:46184925-46417621	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
19	nsv1007501	chr1:46184925-46439533	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
20	nsv534944	chr1:46184925-46439533	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
21	nsv871763	chr1:46186576-46236098	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
22	nsv1006891	chr1:46189258-46408032	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
23	nsv1009355	chr1:46189258-46463012	Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
24	nsv870626	chr1:46196813-46314170	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
25	nsv871312	chr1:46196813-46353332	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
26	esv2830426	chr1:46202361-46347367	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
27	nsv546158	chr1:46216575-46495434	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
28	nsv870911	chr1:46216575-46498375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:30)

SNP	Gene	Cis/trans	Tissue	Source
rs4274104	CMPK1	cis	cerebellum	SCAN
rs4274104	CYP4Z2P	cis	cerebellum	SCAN
rs4274104	MAST2	cis	Artery Aorta	GTEx
rs4274104	CYP4Z2P	cis	parietal	SCAN
rs4274104	TESK2	cis	cerebellum	SCAN
rs4274104	GPBP1L1	cis	Lymphoblastoid	GTEx
rs4274104	CCDC163P	cis	lung	GTEx
rs4274104	MAST2	cis	Artery Tibial	GTEx
rs4274104	Hs.396207	cis	multi-tissue	Pritchard
rs4274104	CCDC163P	cis	Nerve Tibial	GTEx
rs4274104	GPBP1L1	cis	Whole Blood	GTEx
rs4274104	BEND5	cis	cerebellum	SCAN
rs4274104	IPP	cis	parietal	SCAN
rs4274104	CCDC163P	cis	Stomach	GTEx
rs4274104	IPP	Cis_1M	lymphoblastoid	RTeQTL
rs4274104	CCDC163P	cis	Whole Blood	GTEx
rs4274104	CCDC163P	cis	Adipose Subcutaneous	GTEx
rs4274104	SNORD38A	cis	cerebellum	SCAN
rs4274104	CCDC163P	cis	Skin Sun Exposed Lower leg	GTEx
rs4274104	CCDC163P	cis	Artery Tibial	GTEx
rs4274104	CCDC163P	cis	Esophagus Muscularis	GTEx
rs4274104	CCDC163P	cis	Muscle Skeletal	GTEx
rs4274104	CCDC163P	cis	Esophagus Mucosa	GTEx
rs4274104	CCDC24	cis	cerebellum	SCAN
rs4274104	NSUN4	cis	cerebellum	SCAN
rs4274104	CCDC163P	cis	Thyroid	GTEx
rs4274104	IPP	cis	lymphoblastoid	seeQTL
rs4274104	LOC126661	Cis_1M	lymphoblastoid	RTeQTL
rs4274104	CCDC163P	cis	Artery Aorta	GTEx
rs4274104	CCDC163P	cis	Heart Left Ventricle	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46217000-46218000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:46217000-46218000	Enhancers	K562	blood
3	chr1:46217000-46218000	Weak transcription	NHEK	skin
4	chr1:46217000-46218200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:46217000-46218200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:46217000-46218200	Weak transcription	Psoas Muscle	Psoas
7	chr1:46217000-46218200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:46217000-46218200	Enhancers	GM12878-XiMat	blood
9	chr1:46217000-46218200	Weak transcription	HSMMtube	muscle
10	chr1:46217000-46218400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr1:46217000-46218400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:46217000-46218400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:46217000-46218600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:46217000-46218600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:46217000-46218800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:46217000-46218800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:46217000-46218800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:46217000-46219000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:46217200-46219200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:46217200-46221000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:46217400-46218000	Enhancers	Hela-S3	cervix
22	chr1:46217400-46218200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:46217400-46218400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:46217600-46218400	Enhancers	Osteobl	bone
25	chr1:46217600-46218600	Flanking Active TSS	HepG2	liver
26	chr1:46217800-46218200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:46217800-46218600	Enhancers	HUES6 Cell Line	embryonic stem cell

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