Variant report

Variant	rs2442516
Chromosome Location	chr8:6291558-6291559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 180 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:159)

rs_ID	r²[population]
rs1054073	1.00[CEU][hapmap];0.89[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1054074	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11137029	0.82[JPT][hapmap]
rs11137033	0.89[JPT][hapmap]
rs1129703	1.00[CEU][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1129704	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1129706	1.00[CEU][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12545939	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12546890	0.89[JPT][hapmap]
rs12550299	0.89[JPT][hapmap]
rs12675930	0.89[JPT][hapmap]
rs12676907	0.89[JPT][hapmap]
rs12676922	0.83[JPT][hapmap]
rs12677501	0.89[JPT][hapmap]
rs12679619	0.83[JPT][hapmap]
rs13267816	0.83[JPT][hapmap]
rs13282577	0.83[JPT][hapmap]
rs1373306	0.89[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1373307	0.95[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1530408	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1530409	0.90[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17077056	0.89[JPT][hapmap]
rs17077067	0.83[JPT][hapmap]
rs17077083	0.83[JPT][hapmap]
rs17077109	0.89[JPT][hapmap]
rs17609194	0.84[CEU][hapmap]
rs17613024	0.83[JPT][hapmap]
rs1867385	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1867386	1.00[CEU][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1868551	1.00[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1966818	0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs1968585	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2034143	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2053618	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2166006	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2251956	1.00[CEU][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2254903	1.00[CEU][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2277136	0.83[JPT][hapmap]
rs2440392	0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2440396	0.94[JPT][hapmap]
rs2440397	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs2440399	0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs2440401	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs2440403	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2440408	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2440411	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2440412	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2440413	0.89[CEU][hapmap];0.94[CHB][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2440414	1.00[CEU][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2440415	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2440416	1.00[CEU][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2440419	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2440422	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]
rs2440423	1.00[CEU][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2440424	1.00[CEU][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2440427	0.94[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2440428	0.89[JPT][hapmap]
rs2440452	0.83[YRI][hapmap]
rs2442490	0.88[YRI][hapmap]
rs2442491	0.94[JPT][hapmap]
rs2442492	0.87[YRI][hapmap]
rs2442493	0.94[JPT][hapmap]
rs2442496	0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs2442497	0.89[JPT][hapmap]
rs2442499	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2442500	0.93[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2442502	1.00[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2442503	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2442505	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2442506	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2442507	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2442510	1.00[CEU][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2442511	1.00[CEU][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2442512	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2442514	0.94[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2442515	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2442517	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2442518	1.00[CEU][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2442519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2442520	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2442521	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442522	0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2442523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2442524	0.94[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2442527	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2442530	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2442533	0.89[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2442536	0.88[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap]
rs2442546	0.82[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.80[EUR][1000 genomes]
rs2515555	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2515564	0.92[CEU][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2515565	0.95[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap]
rs2515568	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515570	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2515571	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2515572	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515573	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515574	0.81[CHB][hapmap]
rs2515576	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2515582	0.80[YRI][hapmap];0.82[AFR][1000 genomes]
rs2515583	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs2515585	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2916740	0.89[JPT][hapmap]
rs2916741	0.89[JPT][hapmap]
rs2916742	0.89[JPT][hapmap]
rs2916743	0.89[JPT][hapmap]
rs2916746	0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2916749	0.89[CEU][hapmap]
rs2916750	1.00[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2920656	0.87[YRI][hapmap]
rs2920659	0.94[JPT][hapmap]
rs2920660	0.89[JPT][hapmap];0.80[EUR][1000 genomes]
rs2920665	0.95[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2920666	0.85[EUR][1000 genomes]
rs2920668	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2920669	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2920671	0.95[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2920677	0.88[JPT][hapmap];0.86[YRI][hapmap]
rs2920689	0.89[JPT][hapmap];0.87[YRI][hapmap]
rs2922811	0.83[JPT][hapmap]
rs2922813	0.83[JPT][hapmap];0.87[YRI][hapmap]
rs2922814	0.89[JPT][hapmap];0.83[YRI][hapmap]
rs2922815	0.83[JPT][hapmap];0.88[YRI][hapmap]
rs2922818	0.89[JPT][hapmap]
rs2922820	0.89[JPT][hapmap]
rs2922821	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2922822	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2922823	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2922824	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2922833	0.95[CEU][hapmap];0.87[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2979647	0.90[EUR][1000 genomes]
rs2979648	0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2979649	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2979650	0.88[EUR][1000 genomes]
rs2979652	0.89[JPT][hapmap]
rs2979656	0.88[YRI][hapmap]
rs3020270	0.94[CEU][hapmap];0.89[JPT][hapmap]
rs3020275	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3020278	0.88[EUR][1000 genomes]
rs3816402	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6559160	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs6559161	0.95[CEU][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes]
rs6559162	1.00[CEU][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6989935	0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs6993448	0.80[CEU][hapmap]
rs6994734	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs7001056	0.83[ASN][1000 genomes]
rs7002187	0.94[CEU][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs7002495	0.88[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs7002509	0.81[JPT][hapmap]
rs7008037	0.84[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs7008227	0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs7009134	0.88[CHB][hapmap];0.84[JPT][hapmap];0.80[EUR][1000 genomes]
rs7824209	0.89[JPT][hapmap]
rs7833481	0.86[JPT][hapmap]
rs894888	0.93[CHB][hapmap];0.89[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs894895	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs930557	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs963754	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890034	chr8:5926632-6427868	Enhancers Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv949501	chr8:6081704-6303511	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats 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	11 gene(s)	inside rSNPs	diseases
6	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats 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 miRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1024103	chr8:6124125-6303511	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1026950	chr8:6127991-6303511	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1025734	chr8:6128828-6303511	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1022940	chr8:6128828-6304814	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1028552	chr8:6129221-6303511	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1026004	chr8:6144798-6307692	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv539431	chr8:6144798-6307692	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv933107	chr8:6173244-6312807	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv482828	chr8:6182711-6355710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv890055	chr8:6237397-6351252	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv531468	chr8:6248682-6309194	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv933282	chr8:6261036-6440592	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
19	nsv523681	chr8:6279511-6296550	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS 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	17 gene(s)	inside rSNPs	diseases
21	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2442516	MCPH1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6265000-6339200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:6265200-6302200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:6265400-6303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:6267600-6302400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:6268800-6291600	Weak transcription	HSMMtube	muscle
6	chr8:6270200-6295000	Weak transcription	Fetal Brain Female	brain
7	chr8:6273200-6291600	Weak transcription	Esophagus	oesophagus
8	chr8:6273600-6302800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:6274400-6300200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:6278600-6305400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:6279000-6291800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:6279400-6291600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr8:6281800-6302200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:6282000-6300600	Weak transcription	Fetal Heart	heart
15	chr8:6282200-6292800	Weak transcription	Right Ventricle	heart
16	chr8:6282800-6313400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:6283400-6295000	Weak transcription	NHLF	lung
18	chr8:6283400-6299400	Weak transcription	NHDF-Ad	bronchial
19	chr8:6283600-6295000	Weak transcription	Placenta	Placenta
20	chr8:6283800-6300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:6286400-6299000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr8:6287000-6291600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:6287000-6301600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:6287200-6309200	Weak transcription	Fetal Brain Male	brain
25	chr8:6287400-6292400	Weak transcription	HUVEC	blood vessel
26	chr8:6287600-6295000	Weak transcription	Colonic Mucosa	Colon
27	chr8:6287600-6306600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr8:6287600-6307600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:6287600-6344400	Weak transcription	Small Intestine	intestine
30	chr8:6287800-6292600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:6287800-6300400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:6287800-6304800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:6288000-6292400	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:6288000-6292600	Weak transcription	Brain Angular Gyrus	brain
35	chr8:6288000-6295000	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:6288000-6300200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:6288000-6300600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:6288000-6301000	Weak transcription	Psoas Muscle	Psoas
39	chr8:6288400-6304400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:6288600-6291600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr8:6288600-6295000	Weak transcription	Pancreas	Pancrea
42	chr8:6288600-6295200	Weak transcription	Brain Substantia Nigra	brain
43	chr8:6289000-6293000	Strong transcription	K562	blood
44	chr8:6289000-6293200	Strong transcription	Hela-S3	cervix
45	chr8:6289000-6308000	Strong transcription	Dnd41	blood
46	chr8:6289200-6293000	Strong transcription	Primary B cells from peripheral blood	blood
47	chr8:6289200-6293000	Strong transcription	Fetal Muscle Trunk	muscle
48	chr8:6289200-6293800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:6289200-6293800	Strong transcription	Fetal Intestine Large	intestine
50	chr8:6289200-6294000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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