Variant report

Variant	rs4517187
Chromosome Location	chr9:102850723-102850724
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:102848064..102853071-chr9:102854113..102861263,11	K562	blood:
2	chr9:102845337..102851064-chr9:102859939..102862983,5	MCF-7	breast:
3	chr9:102841762..102843858-chr9:102848711..102850723,2	MCF-7	breast:
4	chr9:102848437..102852539-chr9:102852964..102856114,6	MCF-7	breast:
5	chr9:102841884..102844099-chr9:102848697..102851610,2	K562	blood:
6	chr9:102848663..102851560-chr9:102857671..102859927,2	K562	blood:
7	chr9:102849726..102852110-chr9:102854113..102855931,2	K562	blood:

Variant related genes	Relation type
ENSG00000023318	Chromatin interaction
ENSG00000119509	Chromatin interaction

Extended variants
information (count: 216 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:211)

rs_ID	r²[population]
rs10116798	0.87[ASN][1000 genomes]
rs10117150	0.87[ASN][1000 genomes]
rs10117828	0.82[YRI][hapmap]
rs10120103	0.82[YRI][hapmap]
rs10121601	0.82[YRI][hapmap]
rs10121880	0.82[YRI][hapmap]
rs10123261	0.82[YRI][hapmap]
rs1014651	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1014652	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10156395	0.84[ASN][1000 genomes]
rs10217337	0.82[YRI][hapmap]
rs10217692	0.82[YRI][hapmap]
rs10512268	0.82[YRI][hapmap]
rs10739795	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs10739796	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs10760704	0.81[YRI][hapmap]
rs10760710	0.94[ASN][1000 genomes]
rs10760711	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10760712	0.94[ASN][1000 genomes]
rs10760720	0.87[ASN][1000 genomes]
rs10819714	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10819715	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10819716	0.94[ASN][1000 genomes]
rs10819717	0.94[ASN][1000 genomes]
rs10819719	0.93[ASN][1000 genomes]
rs10819737	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10819739	0.91[ASN][1000 genomes]
rs10988934	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10988945	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10988963	0.94[ASN][1000 genomes]
rs10988968	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988969	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988973	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10988974	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10989009	0.87[ASN][1000 genomes]
rs1099910	0.84[ASN][1000 genomes]
rs11555502	0.80[ASN][1000 genomes]
rs12336751	0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs12552646	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12685650	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13301295	0.87[ASN][1000 genomes]
rs1338119	0.84[ASN][1000 genomes]
rs1338121	0.84[CEU][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap]
rs1338123	0.82[JPT][hapmap]
rs1338124	0.82[JPT][hapmap]
rs1338125	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs1342147	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1361668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406613	0.94[ASN][1000 genomes]
rs1415926	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs1418267	0.94[ASN][1000 genomes]
rs1529191	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1529192	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs1529193	0.94[ASN][1000 genomes]
rs1534726	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1535667	0.96[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1539297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572607	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1578644	0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs1578645	0.94[ASN][1000 genomes]
rs1578646	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1830454	0.82[YRI][hapmap]
rs1852863	0.82[YRI][hapmap]
rs1852864	0.94[ASN][1000 genomes]
rs1852865	0.94[ASN][1000 genomes]
rs1891334	0.89[ASN][1000 genomes]
rs1997367	0.82[YRI][hapmap]
rs1997368	0.82[YRI][hapmap]
rs1999877	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2057476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2065997	0.84[CEU][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap]
rs2093696	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2096158	0.94[ASN][1000 genomes]
rs2104273	0.94[ASN][1000 genomes]
rs2181579	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2209082	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2245216	0.82[JPT][hapmap]
rs2416935	0.87[YRI][hapmap]
rs2416936	0.82[YRI][hapmap]
rs2416937	0.82[YRI][hapmap]
rs2416940	0.82[YRI][hapmap]
rs2476439	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2476441	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2476442	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2485745	0.84[CHD][hapmap]
rs2491095	0.84[ASN][1000 genomes]
rs2491096	0.84[ASN][1000 genomes]
rs2698999	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2761053	0.94[ASN][1000 genomes]
rs2761056	0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs2787361	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2787363	0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs2787364	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2787365	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.84[ASN][1000 genomes]
rs2787366	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2787368	0.84[CHD][hapmap]
rs2787372	0.82[CHD][hapmap]
rs2787379	0.84[CEU][hapmap]
rs2787380	0.82[JPT][hapmap]
rs2787382	0.84[CEU][hapmap]
rs2787384	0.84[CEU][hapmap]
rs2787390	0.83[CHD][hapmap]
rs2787391	1.00[JPT][hapmap]
rs2787393	0.85[ASN][1000 genomes]
rs2787394	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2787395	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap]
rs2787396	0.96[CEU][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs2787397	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap]
rs2791335	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2791336	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2791337	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2795575	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2806681	0.96[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.89[ASN][1000 genomes]
rs2806682	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2806683	0.85[ASN][1000 genomes]
rs2806684	0.95[CEU][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2806685	0.82[ASN][1000 genomes]
rs2806687	0.96[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.82[ASN][1000 genomes]
rs2806688	0.80[ASN][1000 genomes]
rs2806691	0.84[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.90[MEX][hapmap]
rs2806693	0.84[CHD][hapmap]
rs2806695	0.82[JPT][hapmap]
rs2806696	0.82[JPT][hapmap]
rs28448789	0.94[ASN][1000 genomes]
rs35493819	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3824510	0.84[ASN][1000 genomes]
rs41346545	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4282626	0.82[YRI][hapmap]
rs4452862	0.82[YRI][hapmap]
rs4495492	0.91[ASN][1000 genomes]
rs4503155	0.94[ASN][1000 genomes]
rs4585797	0.82[YRI][hapmap]
rs4742777	0.82[YRI][hapmap]
rs4742778	0.82[YRI][hapmap]
rs4742779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743370	0.82[YRI][hapmap]
rs4743375	0.94[ASN][1000 genomes]
rs4743376	0.94[ASN][1000 genomes]
rs4743378	0.84[ASN][1000 genomes]
rs4743379	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4743380	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4743381	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4743382	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743384	0.86[ASN][1000 genomes]
rs4743386	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6478991	0.94[ASN][1000 genomes]
rs6478994	0.94[ASN][1000 genomes]
rs6478995	0.94[ASN][1000 genomes]
rs6478996	0.94[ASN][1000 genomes]
rs6478997	0.94[ASN][1000 genomes]
rs6478998	0.94[ASN][1000 genomes]
rs6479000	0.94[ASN][1000 genomes]
rs6479001	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs6479002	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs7018981	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7022493	0.94[ASN][1000 genomes]
rs7024016	0.94[ASN][1000 genomes]
rs7025300	0.94[ASN][1000 genomes]
rs7026532	0.94[ASN][1000 genomes]
rs7027414	0.91[CHD][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs7027619	0.82[YRI][hapmap]
rs7029020	0.94[ASN][1000 genomes]
rs7029048	0.94[ASN][1000 genomes]
rs7032333	0.94[ASN][1000 genomes]
rs7033091	1.00[CHD][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs7036518	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7037362	0.94[ASN][1000 genomes]
rs7039716	0.87[YRI][hapmap]
rs7041338	0.94[ASN][1000 genomes]
rs7042194	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7042912	0.94[ASN][1000 genomes]
rs7043057	0.94[ASN][1000 genomes]
rs7044219	0.94[ASN][1000 genomes]
rs7045612	0.84[ASN][1000 genomes]
rs7047092	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7846794	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs7847213	0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs7853485	0.93[ASN][1000 genomes]
rs7856844	0.91[ASN][1000 genomes]
rs7857530	0.94[ASN][1000 genomes]
rs7858606	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7859492	0.89[ASN][1000 genomes]
rs7861003	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs7862460	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7870585	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7873746	1.00[CHD][hapmap]
rs7874449	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs846752	0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs846753	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs846754	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs846755	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846756	1.00[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.94[ASN][1000 genomes]
rs846758	0.94[ASN][1000 genomes]
rs846759	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs846761	0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs846762	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs846763	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs846766	0.87[ASW][hapmap];0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.98[TSI][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs846768	0.87[ASN][1000 genomes]
rs846769	0.87[ASN][1000 genomes]
rs846770	0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs860171	0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs863668	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9299335	0.82[YRI][hapmap]
rs9408993	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9408995	0.85[ASN][1000 genomes]
rs942163	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs946054	0.82[JPT][hapmap]
rs9556	0.87[YRI][hapmap]
rs9695692	0.87[ASN][1000 genomes]
rs9886877	1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][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	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4517187	CTSL2	cis	cerebellum	SCAN
rs4517187	STX17	cis	Esophagus Mucosa	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102800000-102860200	Weak transcription	Esophagus	oesophagus
2	chr9:102825800-102858200	Weak transcription	Fetal Intestine Small	intestine
3	chr9:102836000-102859000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:102837000-102859600	Weak transcription	Brain Anterior Caudate	brain
5	chr9:102837200-102860200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr9:102838800-102852200	Weak transcription	Adipose Nuclei	Adipose
7	chr9:102839600-102860000	Weak transcription	Fetal Stomach	stomach
8	chr9:102839800-102860200	Weak transcription	Right Atrium	heart
9	chr9:102840600-102855600	Weak transcription	Lung	lung
10	chr9:102842200-102855600	Weak transcription	Gastric	stomach
11	chr9:102842400-102851600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr9:102842600-102851400	Weak transcription	Psoas Muscle	Psoas
13	chr9:102843200-102851800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr9:102844000-102851200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr9:102844000-102851400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr9:102844800-102851600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr9:102846000-102858400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:102846000-102860000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:102846200-102852400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:102846200-102855600	Weak transcription	Right Ventricle	heart
21	chr9:102846400-102856000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr9:102846400-102859600	Weak transcription	NHLF	lung
23	chr9:102846400-102860000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:102846600-102860000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:102846600-102860200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:102847200-102859800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:102847200-102860000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr9:102847400-102850800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr9:102847400-102850800	Enhancers	Primary B cells from cord blood	blood
30	chr9:102847400-102856800	Weak transcription	Small Intestine	intestine
31	chr9:102847600-102851000	Enhancers	Primary B cells from peripheral blood	blood
32	chr9:102848600-102850800	Enhancers	HMEC	breast
33	chr9:102848600-102851000	Enhancers	Primary T cells from cord blood	blood
34	chr9:102848800-102850800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr9:102848800-102851000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:102849000-102851000	Enhancers	Primary hematopoietic stem cells	blood
37	chr9:102849000-102858800	Weak transcription	Hela-S3	cervix
38	chr9:102849200-102858400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr9:102849400-102851600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:102849600-102851600	Enhancers	NHEK	skin
41	chr9:102849800-102850800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr9:102849800-102851400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr9:102849800-102851400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr9:102849800-102851600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:102849800-102851600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:102849800-102852200	Weak transcription	Fetal Lung	lung
47	chr9:102849800-102859200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr9:102850000-102851600	Weak transcription	Stomach Mucosa	stomach
49	chr9:102850000-102851600	Enhancers	GM12878-XiMat	blood
50	chr9:102850000-102852400	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links