Variant report

Variant	rs448028
Chromosome Location	chr3:50673928-50673929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50658918..50663131-chr3:50672291..50676051,5	K562	blood:
2	chr3:50658169..50660186-chr3:50671108..50673991,2	MCF-7	breast:
3	chr3:50668689..50672125-chr3:50673046..50675636,3	K562	blood:
4	chr3:50668689..50671062-chr3:50673046..50675259,2	K562	blood:
5	chr3:50665770..50667653-chr3:50672418..50674764,2	MCF-7	breast:

Extended variants
information (count: 243 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:237)

rs_ID	r²[population]
rs1013233	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1034405	0.89[YRI][hapmap]
rs10510754	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11130255	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11710858	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11712367	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[ASN][1000 genomes]
rs11716398	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11917538	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11921011	1.00[CEU][hapmap]
rs12491425	0.80[AMR][1000 genomes]
rs12639126	1.00[CEU][hapmap]
rs129310	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13065995	1.00[CEU][hapmap]
rs13072085	0.83[EUR][1000 genomes]
rs13075344	0.85[EUR][1000 genomes]
rs13075377	1.00[CEU][hapmap]
rs13084771	0.91[EUR][1000 genomes]
rs13085096	0.85[EUR][1000 genomes]
rs13089719	0.88[EUR][1000 genomes]
rs13094336	0.81[CEU][hapmap]
rs13094785	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs13095920	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs13096264	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs13096772	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs1379873	0.84[EUR][1000 genomes]
rs1379874	0.84[EUR][1000 genomes]
rs1379875	0.84[EUR][1000 genomes]
rs1385025	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1458386	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1458387	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1463496	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1463497	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1471177	1.00[CEU][hapmap]
rs1531271	0.84[EUR][1000 genomes]
rs1563683	0.82[EUR][1000 genomes]
rs1563684	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1598927	0.85[EUR][1000 genomes]
rs1598928	0.84[EUR][1000 genomes]
rs175634	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17660179	0.81[EUR][1000 genomes]
rs17660513	1.00[CEU][hapmap]
rs1824280	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1824281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1841067	0.84[EUR][1000 genomes]
rs1902960	0.82[EUR][1000 genomes]
rs1947607	1.00[CEU][hapmap]
rs1966920	1.00[CEU][hapmap]
rs1966921	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1971976	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs201193	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs201194	0.83[CEU][hapmap]
rs2045510	1.00[CEU][hapmap]
rs2045511	1.00[CEU][hapmap]
rs2061388	1.00[CEU][hapmap]
rs2085580	1.00[CEU][hapmap]
rs2085582	0.84[EUR][1000 genomes]
rs2085584	0.84[EUR][1000 genomes]
rs2085585	0.84[EUR][1000 genomes]
rs2085586	0.84[EUR][1000 genomes]
rs2086827	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2125366	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2125369	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2168863	1.00[CEU][hapmap]
rs2168865	0.84[EUR][1000 genomes]
rs2168866	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2170840	0.83[AFR][1000 genomes]
rs2199050	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2219431	0.84[EUR][1000 genomes]
rs2219432	0.84[EUR][1000 genomes]
rs2219433	0.85[EUR][1000 genomes]
rs2232248	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2262810	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2269505	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2355323	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2355341	0.86[EUR][1000 genomes]
rs2355702	0.85[EUR][1000 genomes]
rs2608988	1.00[CEU][hapmap]
rs2608989	0.80[EUR][1000 genomes]
rs2608990	0.84[EUR][1000 genomes]
rs2608999	0.80[EUR][1000 genomes]
rs2609001	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2609005	0.80[EUR][1000 genomes]
rs2609006	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2609016	0.84[EUR][1000 genomes]
rs2609018	0.84[EUR][1000 genomes]
rs2609019	0.84[EUR][1000 genomes]
rs2609020	1.00[CEU][hapmap]
rs2609022	1.00[CEU][hapmap]
rs2609024	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2609028	0.84[EUR][1000 genomes]
rs2609031	1.00[CEU][hapmap]
rs2609035	0.86[EUR][1000 genomes]
rs2609036	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2609037	1.00[CEU][hapmap]
rs2675769	0.80[EUR][1000 genomes]
rs2675771	0.80[EUR][1000 genomes]
rs2675772	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2675773	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2675774	0.80[EUR][1000 genomes]
rs2675784	0.84[EUR][1000 genomes]
rs2675792	1.00[CEU][hapmap]
rs2675806	1.00[CEU][hapmap]
rs2675810	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs2675812	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs2675813	0.80[EUR][1000 genomes]
rs2675816	1.00[CEU][hapmap]
rs2675819	0.84[EUR][1000 genomes]
rs2675821	0.84[EUR][1000 genomes]
rs2675822	0.84[EUR][1000 genomes]
rs2675825	0.84[EUR][1000 genomes]
rs2675827	0.80[EUR][1000 genomes]
rs2675830	1.00[CEU][hapmap]
rs2675832	1.00[CEU][hapmap]
rs2675834	1.00[CEU][hapmap]
rs2675835	1.00[CEU][hapmap]
rs2675836	1.00[CEU][hapmap]
rs2675837	1.00[CEU][hapmap]
rs2883652	1.00[CEU][hapmap]
rs34048522	0.80[EUR][1000 genomes]
rs34266990	0.85[EUR][1000 genomes]
rs34390947	0.85[EUR][1000 genomes]
rs34492910	0.88[EUR][1000 genomes]
rs34632971	0.91[EUR][1000 genomes]
rs34773360	0.86[EUR][1000 genomes]
rs34846525	0.91[EUR][1000 genomes]
rs34848480	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34866096	0.88[EUR][1000 genomes]
rs35140911	0.80[EUR][1000 genomes]
rs35170043	0.86[EUR][1000 genomes]
rs35193996	0.84[EUR][1000 genomes]
rs35429015	0.88[EUR][1000 genomes]
rs35531616	0.88[EUR][1000 genomes]
rs35566897	0.88[EUR][1000 genomes]
rs36011798	0.88[EUR][1000 genomes]
rs36057916	0.84[EUR][1000 genomes]
rs375544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3792325	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3792328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3804627	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3804628	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs3804632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs388483	0.86[YRI][hapmap]
rs3943212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs396302	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs399971	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs414171	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs417592	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs441516	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4429624	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs443030	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs443436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4476497	0.83[AFR][1000 genomes]
rs4482663	1.00[CEU][hapmap]
rs4485709	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4530518	0.85[EUR][1000 genomes]
rs453570	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4688702	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4688703	0.82[EUR][1000 genomes]
rs4688705	0.83[AFR][1000 genomes]
rs490634	0.84[CEU][hapmap]
rs5000953	0.82[EUR][1000 genomes]
rs61549968	0.88[EUR][1000 genomes]
rs616589	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs616689	0.88[AFR][1000 genomes]
rs622502	0.80[EUR][1000 genomes]
rs628081	0.83[JPT][hapmap]
rs6446208	0.83[AFR][1000 genomes]
rs6446210	0.89[EUR][1000 genomes]
rs6446212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6446213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6446214	0.94[CEU][hapmap]
rs6446215	0.82[EUR][1000 genomes]
rs6446220	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs6446222	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs650655	0.81[AFR][1000 genomes]
rs66472954	0.84[EUR][1000 genomes]
rs66684483	0.84[EUR][1000 genomes]
rs66867590	0.91[EUR][1000 genomes]
rs67211895	0.84[EUR][1000 genomes]
rs67410403	0.80[EUR][1000 genomes]
rs6763990	0.81[EUR][1000 genomes]
rs67672341	0.84[EUR][1000 genomes]
rs6770954	0.83[EUR][1000 genomes]
rs6771348	0.83[AFR][1000 genomes]
rs6775012	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6776224	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6778680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6779819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6783922	0.83[AFR][1000 genomes]
rs6791880	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6794155	0.82[AFR][1000 genomes]
rs6796769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68191286	0.88[EUR][1000 genomes]
rs695170	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71326944	0.88[EUR][1000 genomes]
rs71326945	0.85[EUR][1000 genomes]
rs71329007	0.80[EUR][1000 genomes]
rs71329014	0.81[EUR][1000 genomes]
rs71329017	0.84[EUR][1000 genomes]
rs728901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73072418	0.88[EUR][1000 genomes]
rs73072438	0.86[EUR][1000 genomes]
rs73072442	0.88[EUR][1000 genomes]
rs745356	0.83[AFR][1000 genomes]
rs751851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs754298	0.82[CEU][hapmap]
rs7611428	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7615703	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7629253	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7635666	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7642158	0.85[EUR][1000 genomes]
rs7645212	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7646236	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7650574	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7652715	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs808148	0.83[AFR][1000 genomes]
rs808149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs809451	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs809454	0.86[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs813243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs876103	0.83[AFR][1000 genomes]
rs876104	0.83[AFR][1000 genomes]
rs876105	0.83[AFR][1000 genomes]
rs900735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs936405	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs936406	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9682401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820606	0.82[ASN][1000 genomes]
rs9824522	0.84[ASN][1000 genomes]
rs9825535	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs9826757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9838283	1.00[CEU][hapmap]
rs9839684	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs9867489	0.84[ASN][1000 genomes]
rs9868889	0.88[AFR][1000 genomes]
rs9869945	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs9879397	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs448028	HEMK1	cis	Lymphoblastoid	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50655400-50677800	Weak transcription	Aorta	Aorta
2	chr3:50655600-50681200	Weak transcription	Fetal Brain Female	brain
3	chr3:50656000-50675600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:50656000-50677800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:50657600-50678200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:50660200-50677000	Weak transcription	Liver	Liver
7	chr3:50661600-50674400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:50661600-50675800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr3:50661600-50688200	Weak transcription	Small Intestine	intestine
10	chr3:50662400-50678200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:50662600-50675800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr3:50663200-50677600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:50663400-50690000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr3:50665200-50674400	Weak transcription	Colonic Mucosa	Colon
15	chr3:50665400-50679000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:50665400-50686800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:50665600-50675600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:50665600-50686200	Weak transcription	Stomach Mucosa	stomach
19	chr3:50665800-50674000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:50665800-50675400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:50665800-50675600	Weak transcription	Brain Substantia Nigra	brain
22	chr3:50665800-50675800	Weak transcription	NHLF	lung
23	chr3:50666600-50675400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:50667000-50674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr3:50667200-50680400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:50668600-50678800	Weak transcription	Pancreas	Pancrea
27	chr3:50668600-50679200	Weak transcription	HepG2	liver
28	chr3:50669000-50675800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:50669000-50684800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr3:50669200-50675800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:50670200-50674200	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:50670200-50675800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:50670200-50689000	Weak transcription	K562	blood
34	chr3:50670400-50674000	Weak transcription	Fetal Lung	lung
35	chr3:50670400-50675600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:50670400-50675800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:50670400-50678000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr3:50670400-50699800	Weak transcription	Hela-S3	cervix
39	chr3:50670600-50674200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:50670800-50679800	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:50671000-50674200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr3:50671000-50674400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:50671200-50676600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr3:50671200-50677600	Weak transcription	Gastric	stomach
45	chr3:50671200-50679000	Weak transcription	Ovary	ovary
46	chr3:50671200-50680600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr3:50671400-50674000	Weak transcription	Brain Hippocampus Middle	brain
48	chr3:50671400-50674200	Weak transcription	Esophagus	oesophagus
49	chr3:50671400-50676000	Weak transcription	Placenta	Placenta
50	chr3:50671800-50674600	Weak transcription	Psoas Muscle	Psoas

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