Variant report

Variant	rs7193508
Chromosome Location	chr16:74628630-74628631
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74620530..74622263-chr16:74628480..74629989,2	K562	blood:

Extended variants
information (count: 158 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs1019572	0.80[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs1019573	0.83[CEU][hapmap];0.92[JPT][hapmap]
rs10400930	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10500587	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs11149722	0.84[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap]
rs1138860	0.86[ASN][1000 genomes]
rs11639812	0.92[CEU][hapmap];0.82[CHB][hapmap];0.80[CHD][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap]
rs11644298	0.82[CHB][hapmap];0.90[CHD][hapmap];0.92[JPT][hapmap]
rs11648868	0.85[CHD][hapmap];0.92[JPT][hapmap]
rs12325017	0.80[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.92[JPT][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap]
rs12445991	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs12446054	0.85[CHD][hapmap];0.92[JPT][hapmap]
rs12448026	0.92[ASW][hapmap];0.84[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap]
rs12598701	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs12921903	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12935075	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13339156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339161	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs13359	0.96[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap]
rs1469140	0.84[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.88[TSI][hapmap]
rs1820262	0.96[CEU][hapmap]
rs2098754	0.92[ASW][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap]
rs2288053	0.85[CHD][hapmap];0.92[JPT][hapmap]
rs2303275	0.80[CHD][hapmap];0.92[JPT][hapmap]
rs2303278	0.92[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs2303281	0.80[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.88[TSI][hapmap]
rs28377859	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28502731	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3785312	0.92[CEU][hapmap];0.92[JPT][hapmap]
rs3826239	0.80[CEU][hapmap];0.92[JPT][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap]
rs3851729	0.85[JPT][hapmap];0.87[MKK][hapmap]
rs4072222	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4072450	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4243108	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4271617	0.90[ASN][1000 genomes]
rs4286131	0.90[ASN][1000 genomes]
rs4287593	0.90[ASN][1000 genomes]
rs4302071	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4316784	0.89[ASN][1000 genomes]
rs4344772	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4438331	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4462623	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4544266	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4548905	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4564599	0.94[ASN][1000 genomes]
rs4588013	0.83[EUR][1000 genomes]
rs4600490	1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[JPT][hapmap]
rs4887772	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs4887776	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[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];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4887777	1.00[ASW][hapmap];0.92[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4887779	1.00[ASW][hapmap];0.92[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];0.95[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4888238	0.84[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap]
rs4888240	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs4888242	0.82[CHB][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap]
rs4888253	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs4888256	0.92[ASW][hapmap];0.84[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap]
rs4888257	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4888258	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4888259	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4888262	0.85[JPT][hapmap]
rs4888266	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888267	0.81[JPT][hapmap]
rs4888270	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888274	0.85[JPT][hapmap]
rs57488599	0.84[ASN][1000 genomes]
rs58136167	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6564117	0.92[CEU][hapmap];0.92[CHB][hapmap];0.80[CHD][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs6564141	0.81[ASN][1000 genomes]
rs6564142	0.84[EUR][1000 genomes]
rs6564145	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564146	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6564147	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6564148	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6564149	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6564152	0.95[ASN][1000 genomes]
rs6564153	0.95[ASN][1000 genomes]
rs6564154	0.84[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[YRI][hapmap];0.90[ASN][1000 genomes]
rs6564155	0.87[ASN][1000 genomes]
rs6564157	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6564159	0.85[JPT][hapmap]
rs71392603	0.81[ASN][1000 genomes]
rs7184754	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7185026	0.92[ASW][hapmap];0.84[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs7185722	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7189123	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap]
rs7190631	0.85[ASN][1000 genomes]
rs7191665	0.85[JPT][hapmap]
rs7191754	0.82[ASN][1000 genomes]
rs7193423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193583	0.92[CEU][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7193959	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7194143	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7194687	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7195135	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7195499	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7196369	0.85[JPT][hapmap]
rs7196627	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7201105	0.84[EUR][1000 genomes]
rs7203452	0.92[ASW][hapmap];0.84[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap]
rs7204382	0.84[ASW][hapmap];0.90[CHB][hapmap];0.80[CHD][hapmap];0.85[GIH][hapmap];0.90[MEX][hapmap];0.83[YRI][hapmap]
rs7204804	0.84[ASW][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7205258	1.00[ASW][hapmap];0.96[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];0.93[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7205813	0.80[ASN][1000 genomes]
rs7342732	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7978	0.85[JPT][hapmap]
rs8045848	0.82[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs8047243	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8047523	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8048133	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8048239	0.81[ASN][1000 genomes]
rs8048596	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8049056	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8050615	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8050624	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[YRI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8050850	0.82[ASN][1000 genomes]
rs8051990	0.80[ASN][1000 genomes]
rs8052923	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8053084	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8053369	0.80[ASN][1000 genomes]
rs8054836	0.81[ASN][1000 genomes]
rs8055784	0.84[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[YRI][hapmap];0.87[ASN][1000 genomes]
rs8055803	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8056718	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8056788	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8057279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8058034	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8058133	0.85[JPT][hapmap]
rs8058437	0.95[ASN][1000 genomes]
rs8058692	0.92[ASW][hapmap];0.84[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs8058922	0.84[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.90[MEX][hapmap];0.91[YRI][hapmap];0.86[ASN][1000 genomes]
rs8059869	0.85[JPT][hapmap]
rs8061156	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8061338	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8062404	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8062959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs918782	0.85[ASW][hapmap];0.84[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.92[YRI][hapmap]
rs9888976	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs9921672	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9923145	0.85[JPT][hapmap]
rs9923616	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs9923644	0.81[ASN][1000 genomes]
rs9924716	0.85[ASN][1000 genomes]
rs9925807	0.82[ASN][1000 genomes]
rs9927073	1.00[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9928181	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9929483	0.84[ASW][hapmap];0.80[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[YRI][hapmap];0.84[ASN][1000 genomes]
rs9930003	0.82[ASN][1000 genomes]
rs9931225	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9932831	0.81[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9938833	0.84[ASW][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[YRI][hapmap];0.88[ASN][1000 genomes]
rs9939178	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1060629	chr16:74483574-74660669	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1062517	chr16:74483574-74710623	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv833279	chr16:74490746-74663073	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats 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
7	nsv906905	chr16:74527618-74679244	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7193508	RFWD3	Cis_1M	lymphoblastoid	RTeQTL
rs7193508	RFWD3	cis	Esophagus Mucosa	GTEx
rs7193508	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs7193508	RFWD3	cis	Skin Sun Exposed Lower leg	GTEx
rs7193508	RFWD3	cis	Thyroid	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74605200-74630600	Weak transcription	Fetal Lung	lung
2	chr16:74605200-74639800	Weak transcription	Esophagus	oesophagus
3	chr16:74605600-74630200	Weak transcription	Fetal Intestine Large	intestine
4	chr16:74606800-74636800	Weak transcription	Lung	lung
5	chr16:74608400-74638200	Weak transcription	Fetal Brain Female	brain
6	chr16:74610200-74630400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:74612000-74638600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:74612600-74630200	Weak transcription	NHLF	lung
9	chr16:74615000-74630400	Weak transcription	Thymus	Thymus
10	chr16:74615000-74636800	Weak transcription	Psoas Muscle	Psoas
11	chr16:74615400-74635000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr16:74615400-74637800	Weak transcription	HSMM	muscle
13	chr16:74615600-74630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:74615600-74634000	Weak transcription	Fetal Thymus	thymus
15	chr16:74615800-74637800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr16:74617400-74630400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr16:74617400-74634600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr16:74617600-74631800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr16:74618000-74638400	Weak transcription	Brain Substantia Nigra	brain
20	chr16:74618200-74630200	Weak transcription	Fetal Muscle Leg	muscle
21	chr16:74618200-74630600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr16:74618600-74629000	Weak transcription	Ovary	ovary
23	chr16:74618600-74630200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:74618600-74630600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr16:74618600-74634200	Weak transcription	Dnd41	blood
26	chr16:74618600-74634400	Weak transcription	Small Intestine	intestine
27	chr16:74618600-74634800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:74618800-74630200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr16:74621200-74635400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:74621200-74635600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr16:74623600-74630400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:74623600-74635800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr16:74623800-74629800	Weak transcription	HepG2	liver
34	chr16:74623800-74630000	Weak transcription	Fetal Stomach	stomach
35	chr16:74623800-74630200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:74623800-74630400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr16:74623800-74630600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr16:74623800-74636800	Weak transcription	Adipose Nuclei	Adipose
39	chr16:74624200-74630200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:74624200-74630400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr16:74624200-74633200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:74624200-74634200	Weak transcription	Spleen	Spleen
43	chr16:74624200-74634200	Weak transcription	GM12878-XiMat	blood
44	chr16:74624200-74638600	Weak transcription	Placenta	Placenta
45	chr16:74624200-74639200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr16:74624600-74630400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr16:74624600-74634400	Weak transcription	Primary B cells from cord blood	blood
48	chr16:74624800-74630400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr16:74624800-74630400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr16:74625200-74628800	Enhancers	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links