Variant report

Variant	rs12928852
Chromosome Location	chr16:30943988-30943989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30710381..30712526-chr16:30942515..30945411,2	K562	blood:
2	chr16:30905526..30907392-chr16:30942851..30945082,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099385	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000262721	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs1046276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1060506	0.89[JPT][hapmap]
rs10782001	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];1.00[ASN][1000 genomes]
rs10782002	0.93[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];0.97[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10871454	0.89[JPT][hapmap]
rs11076	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11150596	0.82[CEU][hapmap]
rs11150599	0.91[CEU][hapmap];0.92[CHD][hapmap]
rs11150600	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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11150601	1.00[ASW][hapmap];0.83[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];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11150604	0.89[JPT][hapmap]
rs11640534	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.98[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];1.00[ASN][1000 genomes]
rs11640961	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11649653	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs11862744	0.88[GIH][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap]
rs11864839	0.82[JPT][hapmap]
rs11865038	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs11865499	0.89[JPT][hapmap]
rs12445568	0.83[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs12445650	0.88[JPT][hapmap]
rs12599631	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12716978	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12917722	1.00[ASN][1000 genomes]
rs12924903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12926295	0.91[CEU][hapmap];0.92[CHD][hapmap]
rs12930545	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12930657	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12931046	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12934900	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13336347	1.00[ASN][1000 genomes]
rs13708	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs14235	0.89[JPT][hapmap]
rs1458201	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap]
rs1458202	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];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1549293	0.89[JPT][hapmap]
rs1870293	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1978487	0.89[JPT][hapmap]
rs2032915	0.89[JPT][hapmap]
rs2054213	0.93[ASW][hapmap];0.83[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];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2199036	0.81[EUR][1000 genomes]
rs2303222	0.89[JPT][hapmap]
rs2303223	0.89[JPT][hapmap]
rs2305880	0.93[ASW][hapmap];0.83[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];0.97[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2305884	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2359612	0.89[JPT][hapmap]
rs28360557	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34873012	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35468353	0.88[GIH][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap]
rs35675346	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs35733741	1.00[ASN][1000 genomes]
rs3751855	0.89[JPT][hapmap]
rs3813020	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4468641	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs4502227	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4527034	0.89[JPT][hapmap]
rs4889514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889525	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889571	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889599	0.92[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889603	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4889604	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4889606	1.00[JPT][hapmap]
rs4889609	1.00[CHB][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.87[TSI][hapmap]
rs4889651	0.83[CHD][hapmap]
rs4889653	0.83[CHD][hapmap]
rs4889685	0.94[EUR][1000 genomes]
rs62055866	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6565217	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs6950	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7184567	1.00[CHB][hapmap]
rs7185007	0.84[ASN][1000 genomes]
rs7196726	0.89[JPT][hapmap]
rs7197717	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs7199949	0.89[JPT][hapmap]
rs7200879	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.90[ASN][1000 genomes]
rs7203999	0.83[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs7204459	1.00[ASW][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];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7206511	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];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72799341	0.90[ASN][1000 genomes]
rs7294	0.85[GIH][hapmap];0.89[JPT][hapmap]
rs729482	0.83[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.80[TSI][hapmap]
rs732172	0.85[GIH][hapmap];0.89[JPT][hapmap]
rs749670	0.88[JPT][hapmap]
rs749671	0.89[JPT][hapmap]
rs749767	0.89[JPT][hapmap]
rs750952	0.85[GIH][hapmap];0.89[JPT][hapmap]
rs8046707	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs8050588	0.80[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050894	0.89[JPT][hapmap]
rs8052245	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8056842	0.89[JPT][hapmap]
rs8060857	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8062719	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs881929	0.89[JPT][hapmap]
rs889548	0.89[JPT][hapmap]
rs889555	0.89[JPT][hapmap]
rs897986	0.93[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9319588	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9923231	0.89[JPT][hapmap]
rs9926533	1.00[JPT][hapmap]
rs9933843	0.91[CEU][hapmap];1.00[CHD][hapmap]
rs9934438	0.89[JPT][hapmap]
rs9936329	0.89[JPT][hapmap]
rs9938050	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9938550	0.93[ASW][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9939417	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
6	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
7	nsv905733	chr16:30796919-31004812	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
8	nsv869652	chr16:30799471-30951038	Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
9	nsv833189	chr16:30819708-30960795	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
10	nsv833190	chr16:30845051-31007863	Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
11	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
12	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
13	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
14	nsv905736	chr16:30900235-30995528	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
15	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
16	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
17	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
18	nsv905738	chr16:30906274-30973926	Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs12928852	HSD3B7	cis	Skin Sun Exposed Lower leg	GTEx
rs12928852	MYST1	cis	parietal	SCAN
rs12928852	RP11-196G11.2	cis	Muscle Skeletal	GTEx
rs12928852	MYST1	cis	cerebellum	SCAN
rs12928852	ZNF785	cis	lymphoblastoid	seeQTL
rs12928852	HSD3B7	cis	Muscle Skeletal	GTEx
rs12928852	HSD3B7	cis	Esophagus Mucosa	GTEx
rs12928852	FBRS	cis	cerebellum	SCAN
rs12928852	RABEP2	cis	cerebellum	SCAN
rs12928852	SETD1A	cis	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30936000-30953400	Weak transcription	Right Atrium	heart
2	chr16:30936400-30955200	Weak transcription	Fetal Kidney	kidney
3	chr16:30936400-30955800	Weak transcription	Small Intestine	intestine
4	chr16:30936600-30946400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:30936600-30952800	Weak transcription	Hela-S3	cervix
6	chr16:30936600-30953000	Weak transcription	Stomach Mucosa	stomach
7	chr16:30936800-30944000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr16:30936800-30946200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr16:30937000-30944200	Strong transcription	NHLF	lung
10	chr16:30937000-30946000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:30937200-30944000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr16:30937200-30944200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:30937400-30947600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:30937400-30949400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:30937600-30944000	Strong transcription	Brain Cingulate Gyrus	brain
16	chr16:30937600-30944400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:30937600-30951800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr16:30937600-30958600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:30937800-30944000	Strong transcription	Fetal Lung	lung
20	chr16:30937800-30953000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:30938000-30945800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:30938000-30947800	Strong transcription	Thymus	Thymus
23	chr16:30938200-30945600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:30938200-30953000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:30938600-30946000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr16:30938800-30944200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr16:30939200-30944000	Strong transcription	Gastric	stomach
28	chr16:30939200-30944400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr16:30939200-30944400	Strong transcription	Dnd41	blood
30	chr16:30939200-30949600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr16:30939200-30953000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:30939400-30945000	Strong transcription	Lung	lung
33	chr16:30939400-30949000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr16:30939400-30949000	Strong transcription	Fetal Muscle Leg	muscle
35	chr16:30939400-30949400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr16:30939400-30958800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:30939600-30944000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr16:30939600-30944200	Strong transcription	Fetal Thymus	thymus
39	chr16:30939600-30944400	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr16:30939600-30946000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:30939600-30946200	Strong transcription	Spleen	Spleen
42	chr16:30939600-30947200	Weak transcription	Pancreas	Pancrea
43	chr16:30939600-30948800	Strong transcription	Placenta	Placenta
44	chr16:30939600-30949400	Strong transcription	Fetal Stomach	stomach
45	chr16:30939600-30949800	Strong transcription	Fetal Brain Female	brain
46	chr16:30939600-30950400	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr16:30939600-30959000	Strong transcription	Brain Germinal Matrix	brain
48	chr16:30939800-30944200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr16:30939800-30944200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr16:30939800-30946200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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