Variant report

Variant	rs3748385
Chromosome Location	chr16:70016416-70016417
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 43 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12919312	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12920000	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12925670	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12929383	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12929387	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12930433	0.85[JPT][hapmap]
rs17303895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1862664	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2270843	1.00[CEU][hapmap]
rs2549084	0.96[CEU][hapmap]
rs3206834	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs34168275	0.82[AFR][1000 genomes]
rs34298117	0.84[EUR][1000 genomes]
rs34729113	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34731335	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34895708	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34921671	0.82[AFR][1000 genomes]
rs35223604	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3928415	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4985384	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4985479	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4985480	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55656207	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55832879	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55964871	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55983210	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62050620	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62050641	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62050642	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62050645	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62051303	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62051304	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62051305	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62051311	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62051315	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62051316	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62051322	0.84[AMR][1000 genomes]
rs62051324	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62051325	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62051327	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62051328	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62051331	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62051790	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6499292	0.82[JPT][hapmap]
rs71399905	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71399925	0.82[AFR][1000 genomes]
rs7203885	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72785089	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs889387	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs929840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs929842	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9939092	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
5	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv1801278	chr16:69951043-70050770	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	esv1829103	chr16:69951043-70050770	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv1853	chr16:69962296-70268856	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
10	esv1824931	chr16:69968850-70230516	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	esv1829372	chr16:69968850-70230516	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	esv1830874	chr16:69968850-70298988	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS 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 miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
13	esv15512	chr16:69970836-70032614	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
14	esv2754644	chr16:69971965-70191118	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	esv1823631	chr16:69975086-70103765	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1058789	chr16:69976021-70180213	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
17	esv2762188	chr16:69976033-70281778	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
18	nsv906824	chr16:69976479-70191333	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
19	nsv906825	chr16:69976479-70242125	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
20	nsv827716	chr16:69976588-70237575	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
21	esv1821617	chr16:69976907-70103765	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1056685	chr16:69977397-70198384	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
23	esv1819878	chr16:69977698-70107795	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
24	esv1820498	chr16:69977698-70110468	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
25	nsv428328	chr16:69986563-70313222	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
26	esv1842931	chr16:69988100-70104711	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
27	esv1804280	chr16:69988100-70230516	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
28	esv1802826	chr16:69988100-70287669	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
29	nsv1057982	chr16:69988374-70110034	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
30	nsv1056602	chr16:69988374-70119741	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
31	nsv1060404	chr16:69988374-70125162	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
32	nsv1056988	chr16:69988374-70139542	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
33	nsv1059337	chr16:69988374-70180213	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
34	nsv1060556	chr16:69988374-70186126	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
35	nsv1065878	chr16:69988374-70187182	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
36	nsv1057434	chr16:69988374-70198384	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS 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	18 gene(s)	inside rSNPs	diseases
37	nsv1063690	chr16:69988374-70213032	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
38	nsv906826	chr16:69990319-70126765	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
39	nsv906827	chr16:69990319-70141487	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS 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	9 gene(s)	inside rSNPs	diseases
40	nsv906828	chr16:69990319-70157568	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
41	nsv906829	chr16:69990319-70170186	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
42	nsv906830	chr16:69990319-70182025	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
43	nsv906831	chr16:69990319-70196312	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
44	nsv906832	chr16:69990319-70207808	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
45	nsv906833	chr16:69990319-70218367	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
46	nsv906834	chr16:69990319-70242125	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
47	esv1794068	chr16:69993611-70048808	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
48	esv1821001	chr16:69999932-70237077	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
49	esv1833444	chr16:70000061-70103765	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
50	esv3492398	chr16:70000171-70223061	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:43)

SNP	Gene	Cis/trans	Tissue	Source
rs3748385	RP11-419C5.2	cis	Artery Tibial	GTEx
rs3748385	RP11-419C5.2	cis	Esophagus Mucosa	GTEx
rs3748385	PDXDC2P	cis	Artery Tibial	GTEx
rs3748385	PDXDC2P	cis	Muscle Skeletal	GTEx
rs3748385	RP11-419C5.2	cis	Thyroid	GTEx
rs3748385	RP11-296I10.6	cis	Artery Tibial	GTEx
rs3748385	RP11-419C5.2	cis	Nerve Tibial	GTEx
rs3748385	PDXDC2P	cis	Thyroid	GTEx
rs3748385	RP11-296I10.6	cis	lung	GTEx
rs3748385	RP11-419C5.2	cis	Adipose Subcutaneous	GTEx
rs3748385	RP11-296I10.6	cis	Skin Sun Exposed Lower leg	GTEx
rs3748385	CLEC18A	cis	Esophagus Muscularis	GTEx
rs3748385	CLEC18C	cis	Thyroid	GTEx
rs3748385	CLEC18A	cis	Skin Sun Exposed Lower leg	GTEx
rs3748385	PDXDC2P	cis	lung	GTEx
rs3748385	CLEC18A	cis	Artery Tibial	GTEx
rs3748385	EXOSC6	Cis_1M	lymphoblastoid	RTeQTL
rs3748385	CLEC18A	cis	lung	GTEx
rs3748385	PDXDC2P	cis	Esophagus Mucosa	GTEx
rs3748385	PDXDC2P	cis	Nerve Tibial	GTEx
rs3748385	CLEC18A	cis	Artery Aorta	GTEx
rs3748385	RP11-419C5.2	cis	Artery Aorta	GTEx
rs3748385	EXOSC6	cis	Muscle Skeletal	GTEx
rs3748385	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs3748385	RP11-419C5.2	cis	lung	GTEx
rs3748385	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs3748385	PDXDC2P	cis	Artery Aorta	GTEx
rs3748385	PDXDC2P	cis	Adipose Subcutaneous	GTEx
rs3748385	CLEC18A	cis	Adipose Subcutaneous	GTEx
rs3748385	CLEC18C	cis	Whole Blood	GTEx
rs3748385	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx
rs3748385	EXOSC6	cis	Artery Tibial	GTEx
rs3748385	CLEC18A	cis	Whole Blood	GTEx
rs3748385	CLEC18A	cis	Thyroid	GTEx
rs3748385	CLEC18C	cis	lung	GTEx
rs3748385	RP11-296I10.6	cis	Muscle Skeletal	GTEx
rs3748385	CLEC18A	cis	Stomach	GTEx
rs3748385	RP11-419C5.2	cis	Esophagus Muscularis	GTEx
rs3748385	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs3748385	CLEC18A	cis	Muscle Skeletal	GTEx
rs3748385	PDXDC2P	cis	Esophagus Muscularis	GTEx
rs3748385	LOC283970	cis	multi-tissue	Pritchard
rs3748385	CLEC18A	cis	Esophagus Mucosa	GTEx

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69999400-70051600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:70000000-70044600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr16:70004000-70044600	Weak transcription	HepG2	liver
4	chr16:70004400-70055000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr16:70005800-70028400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:70006400-70024200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:70006600-70024800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr16:70006600-70025200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr16:70006600-70028600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr16:70006600-70057800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:70006800-70031800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:70006800-70044600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr16:70007000-70021400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:70007000-70050000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr16:70007400-70044800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr16:70008800-70028800	Weak transcription	Right Ventricle	heart
17	chr16:70008800-70031200	Weak transcription	HUVEC	blood vessel
18	chr16:70008800-70046400	Weak transcription	Fetal Brain Female	brain
19	chr16:70009000-70047400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr16:70009000-70050200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:70009200-70025200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr16:70009200-70025200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:70009200-70026400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr16:70009200-70028200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:70009400-70026400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:70009400-70026400	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr16:70009400-70026400	Weak transcription	Brain Hippocampus Middle	brain
28	chr16:70009400-70044600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:70009800-70058000	Weak transcription	Brain Substantia Nigra	brain
30	chr16:70010800-70049600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr16:70011000-70016600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr16:70011000-70016600	Strong transcription	Fetal Intestine Large	intestine
33	chr16:70011000-70016600	Strong transcription	Fetal Muscle Leg	muscle
34	chr16:70011000-70025200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:70011000-70026400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr16:70011000-70026400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr16:70011400-70025200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr16:70011800-70071600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr16:70012000-70025200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:70012000-70026400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr16:70012000-70057600	Weak transcription	Brain Germinal Matrix	brain
42	chr16:70012200-70016800	Strong transcription	Fetal Stomach	stomach
43	chr16:70012400-70026400	Weak transcription	Primary B cells from cord blood	blood
44	chr16:70012800-70024800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr16:70012800-70025200	Weak transcription	Ovary	ovary
46	chr16:70012800-70031800	Weak transcription	Osteobl	bone
47	chr16:70013000-70031400	Weak transcription	Psoas Muscle	Psoas
48	chr16:70013200-70016600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:70013200-70016800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:70013200-70047400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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