Variant report

Variant	rs7594838
Chromosome Location	chr2:100067554-100067555
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 148 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs1000409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1011633	0.86[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10170425	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10172752	1.00[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];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173466	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10186340	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10187843	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10205985	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10207981	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs1053544	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs10865031	0.88[ASN][1000 genomes]
rs11123775	0.84[JPT][hapmap]
rs11123782	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs11123786	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11674219	0.83[EUR][1000 genomes]
rs11676581	0.85[ASW][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap]
rs11679115	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11683651	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11686535	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs11687870	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[EUR][1000 genomes]
rs11884686	0.84[JPT][hapmap]
rs11887109	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11887574	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11892441	0.84[JPT][hapmap]
rs11899745	0.86[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs11902994	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12464535	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12464785	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs12465846	0.88[ASN][1000 genomes]
rs12478488	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12618779	0.84[EUR][1000 genomes]
rs12621141	0.89[AMR][1000 genomes]
rs12623540	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13014360	0.82[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.89[TSI][hapmap];0.91[YRI][hapmap]
rs13017871	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes]
rs13018274	0.93[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];0.88[EUR][1000 genomes]
rs13026997	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs13028869	0.84[EUR][1000 genomes]
rs13384883	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13389623	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13392042	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13394688	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13427780	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1376443	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1451243	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1451246	0.88[ASN][1000 genomes]
rs1584647	0.84[JPT][hapmap]
rs1584648	0.84[JPT][hapmap]
rs17022433	0.82[CHD][hapmap];0.84[JPT][hapmap]
rs17022629	0.84[JPT][hapmap]
rs1807985	0.87[EUR][1000 genomes]
rs1839666	0.85[ASN][1000 genomes]
rs1839667	0.87[ASN][1000 genomes]
rs1901283	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973011	0.85[ASN][1000 genomes]
rs2053917	0.88[ASN][1000 genomes]
rs2122748	0.88[ASN][1000 genomes]
rs2242037	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2290255	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs2290256	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2290257	0.84[JPT][hapmap]
rs2290261	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs2305354	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2309585	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309586	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2309604	0.84[ASN][1000 genomes]
rs2309617	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs28369943	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382954	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3087386	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3749087	0.84[JPT][hapmap]
rs3791212	0.84[JPT][hapmap]
rs3792134	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792137	0.85[CHB][hapmap];0.87[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs3792142	0.84[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs3792144	0.88[ASN][1000 genomes]
rs3792146	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3792149	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792152	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3811555	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3828316	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4143760	0.86[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs4476396	0.88[ASN][1000 genomes]
rs4535093	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4850901	0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[EUR][1000 genomes]
rs4850903	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4851200	0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs4851205	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4851206	0.86[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs4851208	0.85[ASN][1000 genomes]
rs55867742	0.84[AMR][1000 genomes]
rs57977991	0.86[ASN][1000 genomes]
rs60257640	0.88[ASN][1000 genomes]
rs60335031	0.81[ASN][1000 genomes]
rs62155809	0.87[ASN][1000 genomes]
rs6542879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542881	0.82[ASN][1000 genomes]
rs6542882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6706607	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6708861	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6709240	0.85[EUR][1000 genomes]
rs6711977	0.85[ASW][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap]
rs6713792	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6714244	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6715321	0.80[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap]
rs6717515	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6721297	0.92[CEU][hapmap];0.95[CHB][hapmap];0.87[YRI][hapmap]
rs6722617	0.90[JPT][hapmap]
rs6734290	0.93[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6737560	0.84[ASN][1000 genomes]
rs71413827	0.82[AMR][1000 genomes]
rs717454	0.85[CHD][hapmap];0.84[JPT][hapmap]
rs7558074	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7560795	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7561079	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7561616	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7563455	0.88[ASN][1000 genomes]
rs7563462	0.85[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs7564587	0.83[ASN][1000 genomes]
rs7567674	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571202	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7572779	0.87[ASN][1000 genomes]
rs7574135	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7579403	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7580448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7585019	0.86[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs7585721	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7586892	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7587419	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7591212	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7593274	0.84[JPT][hapmap]
rs7597141	0.84[JPT][hapmap]
rs7598629	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601470	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7601730	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7609108	0.84[EUR][1000 genomes]
rs769105	0.86[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs896248	0.83[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs896249	0.86[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs959929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv874700	chr2:100062163-100099989	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1792220	chr2:100063440-100077327	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7594838	LIPT1	cis	cerebellum	SCAN
rs7594838	LIPT1	cis	multi-tissue	Pritchard
rs7594838	LIPT1	cis	parietal	SCAN
rs7594838	LYG1	cis	Skin Sun Exposed Lower leg	GTEx
rs7594838	TSGA10	cis	multi-tissue	Pritchard
rs7594838	TSGA10	cis	cerebellum	SCAN
rs7594838	REV1L	cis	multi-tissue	Pritchard
rs7594838	FAHD2A	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:100021200-100077800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:100032600-100078000	Weak transcription	Psoas Muscle	Psoas
4	chr2:100034200-100088800	Weak transcription	Small Intestine	intestine
5	chr2:100036800-100074800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:100038200-100073800	Weak transcription	Esophagus	oesophagus
7	chr2:100041400-100077800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:100041600-100083400	Weak transcription	Brain Substantia Nigra	brain
9	chr2:100045400-100068200	Weak transcription	Ovary	ovary
10	chr2:100048200-100090600	Weak transcription	Stomach Mucosa	stomach
11	chr2:100048400-100067800	Weak transcription	Fetal Heart	heart
12	chr2:100048600-100068200	Weak transcription	Spleen	Spleen
13	chr2:100048800-100070400	Weak transcription	Fetal Brain Female	brain
14	chr2:100053800-100075800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:100055400-100083200	Weak transcription	Right Ventricle	heart
16	chr2:100055600-100068600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:100055600-100071200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:100055600-100078200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:100055600-100079800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:100055800-100067800	Weak transcription	Fetal Lung	lung
21	chr2:100055800-100072200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:100055800-100072800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:100055800-100076200	Weak transcription	Aorta	Aorta
24	chr2:100055800-100076400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:100055800-100089000	Weak transcription	Pancreas	Pancrea
26	chr2:100055800-100092600	Weak transcription	Gastric	stomach
27	chr2:100056600-100091000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:100057000-100071600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:100057200-100073000	Weak transcription	NHLF	lung
30	chr2:100057200-100076000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:100057400-100068200	Weak transcription	Hela-S3	cervix
32	chr2:100057400-100071600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:100057400-100077800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:100057400-100078000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:100058200-100077800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:100059000-100068600	Weak transcription	Brain Anterior Caudate	brain
37	chr2:100059200-100067600	Weak transcription	HSMM	muscle
38	chr2:100059200-100067800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr2:100059600-100071400	Weak transcription	K562	blood
40	chr2:100060400-100079200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:100061800-100079200	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr2:100061800-100079400	Strong transcription	Liver	Liver
43	chr2:100062200-100070600	Strong transcription	Primary T cells from cord blood	blood
44	chr2:100062200-100074400	Strong transcription	Fetal Thymus	thymus
45	chr2:100062200-100079000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:100062200-100080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:100062200-100080600	Strong transcription	HepG2	liver
48	chr2:100062400-100079200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:100062600-100079200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr2:100063400-100069600	Strong transcription	Dnd41	blood

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