Variant report

Variant	rs7197717
Chromosome Location	chr16:31083075-31083076
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr16:31082939-31086437	SK-N-SH	brain:	n/a	chr16:31085077-31085086 chr16:31084994-31085004 chr16:31083087-31083096 chr16:31084994-31085004 chr16:31084844-31084853
2	JUND	chr16:31082750-31085035	GM12878	blood:	n/a	chr16:31084994-31085004 chr16:31083087-31083096 chr16:31084994-31085004 chr16:31084844-31084853
3	MAZ	chr16:31082958-31086517	IMR90	lung:	n/a	chr16:31084485-31084493
4	RCOR1	chr16:31082910-31086712	IMR90	lung:	n/a	n/a
5	MXI1	chr16:31082840-31086626	IMR90	lung:	n/a	n/a
6	BATF	chr16:31083063-31083380	GM12878	blood:	n/a	chr16:31083212-31083223
7	POLR2A	chr16:31083021-31083584	GM12878	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30993751..31000588-chr16:31082470..31087271,14	MCF-7	breast:
2	chr16:31083053..31086141-chr16:31468278..31470995,4	MCF-7	breast:
3	chr16:31083053..31084601-chr16:31201158..31202703,2	MCF-7	breast:
4	chr16:31083048..31086004-chr16:31194000..31195518,2	K562	blood:
5	chr16:31082536..31087626-chr16:31189682..31193300,10	K562	blood:
6	chr16:31082772..31088721-chr16:31466605..31471958,8	MCF-7	breast:
7	chr16:30967179..30972282-chr16:31082507..31088894,13	MCF-7	breast:
8	chr16:30967328..30969546-chr16:31080736..31083156,2	K562	blood:
9	chr16:31082869..31088846-chr16:31189629..31192848,9	MCF-7	breast:
10	chr16:31082745..31087235-chr16:31149717..31155170,6	K562	blood:
11	chr16:31006807..31011358-chr16:31082999..31086095,12	MCF-7	breast:
12	chr16:31072499..31076258-chr16:31082404..31085688,4	K562	blood:
13	chr16:31043013..31046253-chr16:31082389..31087326,7	K562	blood:
14	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
15	chr16:31076302..31081402-chr16:31082512..31087316,9	K562	blood:
16	chr16:31043013..31047219-chr16:31082783..31087326,13	K562	blood:
17	chr16:31082041..31086874-chr16:31152182..31155388,6	MCF-7	breast:
18	chr16:31083069..31087057-chr16:31126898..31130730,7	K562	blood:
19	chr16:31082242..31083772-chr16:31127468..31130387,2	MCF-7	breast:
20	chr16:31043007..31053782-chr16:31072765..31087431,40	MCF-7	breast:
21	chr16:31082583..31087626-chr16:31190328..31193369,8	K562	blood:
22	chr16:30991043..31010547-chr16:31082350..31088728,42	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF646	TF binding region
ENSG00000103496	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000260304	Chromatin interaction
ENSG00000232748	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000103510	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000262766	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000261124	Chromatin interaction
ENSG00000052344	Chromatin interaction
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 157 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs1046276	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs1060506	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[ASN][1000 genomes]
rs10782001	0.89[JPT][hapmap]
rs10782002	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs10871454	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11076	0.88[JPT][hapmap]
rs1108431	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11150599	0.88[JPT][hapmap]
rs11150600	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs11150601	0.83[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs11150604	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11640534	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs11640767	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11640957	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11640961	0.89[JPT][hapmap]
rs11642003	0.82[ASN][1000 genomes]
rs11642192	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11647284	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11647442	0.95[ASN][1000 genomes]
rs11649653	1.00[JPT][hapmap]
rs11862744	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11864806	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11864839	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11865038	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][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]
rs11865499	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[ASN][1000 genomes]
rs12102776	0.82[CHB][hapmap];0.92[CHD][hapmap]
rs12445568	0.83[CEU][hapmap];0.88[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs12445650	0.92[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12448321	0.89[ASN][1000 genomes]
rs12597511	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12716981	0.95[ASN][1000 genomes]
rs12716982	0.95[ASN][1000 genomes]
rs12924903	0.88[GIH][hapmap];1.00[JPT][hapmap]
rs12926295	0.88[JPT][hapmap]
rs12928852	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs12930545	0.88[GIH][hapmap]
rs12931046	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs12934418	0.89[ASN][1000 genomes]
rs13708	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs14235	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1458201	0.89[JPT][hapmap]
rs1458202	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs1549293	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17839567	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17839568	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870293	0.83[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs1978485	0.95[ASN][1000 genomes]
rs1978487	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2032915	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2054213	0.83[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs2288004	0.89[ASN][1000 genomes]
rs2303222	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2303223	1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2305880	0.83[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs2305884	0.83[CEU][hapmap];0.85[GIH][hapmap];0.89[JPT][hapmap]
rs2359612	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2855475	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28725459	0.91[ASN][1000 genomes]
rs28814987	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884738	0.95[ASN][1000 genomes]
rs34649473	0.85[ASN][1000 genomes]
rs35351013	0.93[ASN][1000 genomes]
rs35468353	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35675346	1.00[JPT][hapmap]
rs35713203	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35961830	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3751855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813020	0.88[GIH][hapmap]
rs4468641	0.81[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];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527034	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4889525	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs4889526	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4889530	0.87[ASN][1000 genomes]
rs4889599	0.83[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs4889603	0.89[JPT][hapmap]
rs4889604	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs4889606	0.89[JPT][hapmap]
rs4889609	0.93[ASW][hapmap];0.92[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.86[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4889619	0.84[ASN][1000 genomes]
rs4889620	0.95[ASN][1000 genomes]
rs4889623	0.82[CHB][hapmap]
rs4889651	0.88[JPT][hapmap]
rs4889653	0.88[JPT][hapmap]
rs55766044	0.95[ASN][1000 genomes]
rs55979739	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56284083	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56314408	0.95[ASN][1000 genomes]
rs56813533	0.93[ASN][1000 genomes]
rs57434408	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57576577	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58726213	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59061704	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59735493	0.95[ASN][1000 genomes]
rs60996860	0.91[ASN][1000 genomes]
rs61162043	1.00[ASN][1000 genomes]
rs61320757	0.95[ASN][1000 genomes]
rs6565217	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950	0.83[CEU][hapmap];0.89[JPT][hapmap]
rs7184567	0.92[CEU][hapmap]
rs7187995	0.93[ASN][1000 genomes]
rs7190802	0.82[CHB][hapmap]
rs7196161	1.00[ASN][1000 genomes]
rs7196726	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7199949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs7200879	1.00[JPT][hapmap]
rs7203999	0.83[CEU][hapmap];0.82[CHD][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs7204459	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs7206511	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs7294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729482	0.83[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs732172	0.92[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs732173	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73530203	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs749670	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs749671	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs749767	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7500176	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs750952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8046707	0.89[JPT][hapmap]
rs8047803	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050588	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs8050894	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8056842	0.92[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8060857	0.88[GIH][hapmap];0.89[JPT][hapmap]
rs8061047	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8062719	0.83[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs8063565	0.88[JPT][hapmap]
rs881929	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs889548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs889555	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs897986	0.83[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap]
rs9673641	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9923231	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9925964	0.95[ASN][1000 genomes]
rs9926533	0.82[CHD][hapmap];0.89[JPT][hapmap]
rs9927295	0.82[YRI][hapmap]
rs9929899	0.86[ASN][1000 genomes]
rs9933843	0.88[JPT][hapmap]
rs9934438	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9936329	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9938550	0.83[CEU][hapmap];0.88[GIH][hapmap]
rs9939417	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9939558	0.89[ASN][1000 genomes]
rs9972727	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	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
9	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
10	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
11	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
12	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
13	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs7197717	ZNF48	cis	cerebellum	SCAN
rs7197717	MYST1	cis	lymphoblastoid	seeQTL
rs7197717	RP11-196G11.2	cis	Esophagus Muscularis	GTEx
rs7197717	ZNF747	cis	parietal	SCAN
rs7197717	STX4	cis	lymphoblastoid	seeQTL
rs7197717	HSD3B7	cis	Esophagus Mucosa	GTEx
rs7197717	ZNF785	cis	lymphoblastoid	seeQTL
rs7197717	KAT8	cis	Artery Tibial	GTEx
rs7197717	TAOK2	cis	parietal	SCAN
rs7197717	MYST1	cis	cerebellum	SCAN
rs7197717	MYST1	cis	parietal	SCAN
rs7197717	HSD3B7	cis	Skin Sun Exposed Lower leg	GTEx
rs7197717	RP11-196G11.2	cis	Muscle Skeletal	GTEx
rs7197717	RABEP2	cis	cerebellum	SCAN
rs7197717	NCRNA00095	cis	cerebellum	SCAN
rs7197717	VKORC1	cis	cerebellum	SCAN
rs7197717	SEPHS2	cis	lymphoblastoid	seeQTL
rs7197717	HSD3B7	cis	Muscle Skeletal	GTEx
rs7197717	STX1B	cis	Thyroid	GTEx
rs7197717	YPEL3	cis	parietal	SCAN
rs7197717	STX4	Cis_1M	lymphoblastoid	RTeQTL
rs7197717	KAT8	cis	Skin Sun Exposed Lower leg	GTEx
rs7197717	MYST1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31046000-31083200	Weak transcription	Right Atrium	heart
2	chr16:31052000-31083400	Weak transcription	Primary B cells from cord blood	blood
3	chr16:31054000-31083200	Weak transcription	Fetal Kidney	kidney
4	chr16:31073600-31083200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr16:31073600-31083200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:31073600-31083200	Weak transcription	Brain Substantia Nigra	brain
7	chr16:31073800-31083400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr16:31075400-31084000	Weak transcription	Ovary	ovary
9	chr16:31075600-31083200	Weak transcription	Liver	Liver
10	chr16:31075600-31083400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:31075600-31083600	Weak transcription	Gastric	stomach
12	chr16:31075600-31083800	Weak transcription	Aorta	Aorta
13	chr16:31075800-31083200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:31075800-31083400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr16:31075800-31083400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:31075800-31083400	Weak transcription	Fetal Intestine Large	intestine
17	chr16:31076400-31083200	Weak transcription	Fetal Intestine Small	intestine
18	chr16:31076600-31083200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:31076800-31083200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:31076800-31083200	Weak transcription	Primary T cells from cord blood	blood
21	chr16:31076800-31083200	Weak transcription	Fetal Thymus	thymus
22	chr16:31076800-31083400	Weak transcription	Left Ventricle	heart
23	chr16:31077000-31083200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:31077400-31083600	Weak transcription	Lung	lung
25	chr16:31077600-31083200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr16:31077800-31083200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr16:31077800-31083200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:31077800-31083400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:31078000-31083200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr16:31080800-31083400	Weak transcription	Pancreas	Pancrea
31	chr16:31082000-31083600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr16:31082200-31083400	Enhancers	Fetal Muscle Trunk	muscle
33	chr16:31082400-31083400	Enhancers	Fetal Muscle Leg	muscle
34	chr16:31082600-31083400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr16:31082600-31083600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:31082800-31083200	Enhancers	Adipose Nuclei	Adipose
37	chr16:31082800-31083200	Enhancers	Brain Cingulate Gyrus	brain
38	chr16:31082800-31083200	Enhancers	Thymus	Thymus
39	chr16:31082800-31083400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr16:31082800-31083400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:31082800-31083400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr16:31082800-31083400	Enhancers	Psoas Muscle	Psoas
43	chr16:31082800-31083400	Enhancers	HUVEC	blood vessel
44	chr16:31082800-31083600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr16:31082800-31083800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr16:31082800-31083800	Flanking Active TSS	NHLF	lung
47	chr16:31082800-31084000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:31082800-31084000	Flanking Active TSS	Fetal Brain Female	brain
49	chr16:31083000-31083200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr16:31083000-31083200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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