Variant report

Variant	rs12444137
Chromosome Location	chr16:81110351-81110352
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:293)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr16:81110003-81111334	MCF-7	breast:	n/a	n/a
2	ZNF143	chr16:81110137-81111196	K562	blood:	n/a	n/a
3	MAX	chr16:81110108-81111241	A549	lung:	n/a	chr16:81110826-81110835
4	SIX5	chr16:81110283-81111020	A549	lung:	n/a	n/a
5	MXI1	chr16:81110201-81111168	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr16:81109970-81111207	ECC-1	luminal epithelium:	n/a	chr16:81110826-81110835
7	POLR2A	chr16:81110051-81111492	Hela-S3	cervix:	n/a	n/a
8	MAX	chr16:81110012-81111238	SK-N-SH	brain:	n/a	chr16:81110826-81110835
9	MAX	chr16:81110103-81111261	HepG2	liver:	n/a	chr16:81110826-81110835
10	TAF1	chr16:81110150-81111422	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr16:81110289-81111049	GM12878	blood:	n/a	chr16:81110870-81110881
12	ELF1	chr16:81110152-81111312	K562	blood:	n/a	n/a
13	MAX	chr16:81110063-81111091	H1-hESC	embryonic stem cell:	n/a	chr16:81110826-81110835
14	RCOR1	chr16:81110032-81111089	K562	blood:	n/a	n/a
15	POLR2A	chr16:81110236-81111530	ProgFib	skin:	n/a	n/a
16	GABPA	chr16:81110212-81111390	A549	lung:	n/a	n/a
17	SREBP1	chr16:81110281-81111147	HepG2	liver:	n/a	n/a
18	GABPA	chr16:81110151-81111300	K562	blood:	n/a	n/a
19	MYC	chr16:81109878-81110397	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr16:81110219-81111167	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr16:81110124-81111815	IMR90	lung:	n/a	n/a
22	SMC3	chr16:81110117-81110538	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:81110158-81111425	GM12878	blood:	n/a	n/a
24	NRF1	chr16:81110144-81110454	GM12878	blood:	n/a	n/a
25	RELA	chr16:81110063-81111175	GM15510	blood:	n/a	n/a
26	GABPA	chr16:81110331-81111142	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3AK20	chr16:81110107-81111076	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:81110178-81111387	GM19099	blood:	n/a	n/a
29	MAZ	chr16:81110103-81111286	K562	blood:	n/a	chr16:81110826-81110835
30	POLR2A	chr16:81110063-81111352	HCT-116	colon:	n/a	n/a
31	ATF2	chr16:81110173-81111048	GM12878	blood:	n/a	chr16:81110870-81110881
32	MXI1	chr16:81110117-81111280	GM12878	blood:	n/a	n/a
33	POLR2A	chr16:81110157-81111586	K562	blood:	n/a	n/a
34	POLR2A	chr16:81110064-81111496	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr16:81109971-81111422	SK-N-MC	brain:	n/a	n/a
36	CREB1	chr16:81110120-81111289	H1-hESC	embryonic stem cell:	n/a	n/a
37	RELA	chr16:81110142-81111078	GM18951	blood:	n/a	n/a
38	MYC	chr16:81110019-81111263	K562	blood:	n/a	chr16:81110826-81110835
39	ZMIZ1	chr16:81110306-81111296	K562	blood:	n/a	n/a
40	E2F6	chr16:81109998-81110585	H1-hESC	embryonic stem cell:	n/a	n/a
41	USF2	chr16:81110178-81110947	GM12878	blood:	n/a	chr16:81110852-81110868
42	REST	chr16:81110335-81110577	A549	lung:	n/a	n/a
43	SP4	chr16:81110165-81110707	H1-hESC	embryonic stem cell:	n/a	chr16:81110324-81110340 chr16:81110326-81110342 chr16:81110343-81110359
44	FOSL2	chr16:81110244-81110766	A549	lung:	n/a	n/a
45	POLR2A	chr16:81110149-81110377	HepG2	liver:	n/a	n/a
46	MAFK	chr16:81110149-81110893	HepG2	liver:	n/a	n/a
47	GABPA	chr16:81110176-81111345	K562	blood:	n/a	n/a
48	ELF1	chr16:81110103-81111245	GM12878	blood:	n/a	n/a
49	KAP1	chr16:81110056-81111275	HEK293	kidney:	n/a	n/a
50	POLR2A	chr16:81110336-81111385	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:81109459..81113813-chr16:81119137..81125158,9	MCF-7	breast:
2	chr16:81067728..81071580-chr16:81109086..81113987,13	K562	blood:
3	chr16:81109242..81112738-chr16:81125910..81131139,12	MCF-7	breast:
4	chr16:81096522..81104265-chr16:81107324..81112531,10	MCF-7	breast:
5	chr16:81039722..81044457-chr16:81106699..81112118,5	MCF-7	breast:
6	chr16:81102378..81105736-chr16:81109275..81112562,6	K562	blood:
7	chr16:81109518..81111024-chr16:81347327..81349963,2	K562	blood:
8	chr16:81110094..81110965-chr7:95063901..95064577,2	Hela-S3	cervix:
9	chr16:81038376..81043277-chr16:81108432..81112403,6	K562	blood:
10	chr16:81038376..81042418-chr16:81108432..81111584,4	K562	blood:
11	chr16:81109109..81111856-chr16:81126620..81130593,5	MCF-7	breast:
12	chr16:81110316..81112473-chr16:81346981..81348533,2	MCF-7	breast:
13	chr16:81068163..81070898-chr16:81108747..81112001,7	MCF-7	breast:
14	chr16:81067878..81071089-chr16:81109086..81112093,6	K562	blood:
15	chr16:81109214..81111850-chr16:81221258..81223565,2	MCF-7	breast:
16	chr16:81102378..81105736-chr16:81109334..81111887,5	K562	blood:
17	chr16:81039624..81041255-chr16:81107979..81110813,2	MCF-7	breast:
18	chr16:81068891..81069786-chr16:81109296..81110385,4	MCF-7	breast:
19	chr16:81109389..81113385-chr16:81129533..81131576,3	K562	blood:
20	chr16:81104152..81107798-chr16:81108570..81111013,4	MCF-7	breast:
21	chr16:81108969..81114076-chr16:81128464..81132360,7	K562	blood:
22	chr16:81067084..81072191-chr16:81106033..81112629,21	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245059	TF binding region
ENSG00000166454	Chromatin interaction
ENSG00000260495	Chromatin interaction
ENSG00000260643	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000166473	Chromatin interaction
ENSG00000261609	Chromatin interaction
ENSG00000105854	Chromatin interaction
ENSG00000261838	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1035541	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10459871	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10459872	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1048194	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs10492891	1.00[YRI][hapmap]
rs1050364	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10514512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10514513	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10514514	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10514515	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11150338	0.82[ASN][1000 genomes]
rs11537	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11863158	0.84[AMR][1000 genomes]
rs11866124	0.90[CEU][hapmap]
rs12443549	1.00[CEU][hapmap];0.92[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];0.98[ASN][1000 genomes]
rs12444747	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs12444969	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12444974	0.90[CEU][hapmap]
rs12445303	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12448806	0.87[EUR][1000 genomes]
rs12456	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs12598621	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12927239	0.89[CEU][hapmap]
rs13185	0.90[CEU][hapmap]
rs1410	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1412	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1414	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1563072	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs1563075	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1563077	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16954505	0.89[CEU][hapmap]
rs16954513	0.89[CEU][hapmap]
rs16954572	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16954582	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1814543	0.86[EUR][1000 genomes]
rs1965237	0.82[ASN][1000 genomes]
rs2278022	0.89[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278024	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2287995	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2316730	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs2316731	0.86[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2317085	0.95[EUR][1000 genomes]
rs2317086	0.94[EUR][1000 genomes]
rs2317087	0.87[EUR][1000 genomes]
rs2549891	1.00[CEU][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2549896	1.00[CEU][hapmap]
rs2549899	0.81[CEU][hapmap]
rs2602402	1.00[CEU][hapmap]
rs2602407	1.00[CEU][hapmap]
rs28391685	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28613188	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28672349	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2970076	1.00[CEU][hapmap]
rs2970077	0.89[CEU][hapmap]
rs35096487	0.92[AMR][1000 genomes]
rs4306521	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4324141	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4324142	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4324143	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4454990	0.89[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap];0.95[EUR][1000 genomes]
rs4889225	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4889227	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4889229	0.87[EUR][1000 genomes]
rs4889230	0.87[EUR][1000 genomes]
rs4889231	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4889233	0.90[CEU][hapmap]
rs55939311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56032321	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56119129	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56166222	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56198248	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56286107	0.91[EUR][1000 genomes]
rs56395947	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57606521	0.82[EUR][1000 genomes]
rs58144189	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59177227	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59685942	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60481447	0.80[ASN][1000 genomes]
rs61082942	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62054594	0.89[ASN][1000 genomes]
rs6420421	0.90[CEU][hapmap]
rs6564820	0.83[JPT][hapmap]
rs6564821	0.83[JPT][hapmap]
rs6564822	0.83[JPT][hapmap]
rs7185637	0.86[EUR][1000 genomes]
rs7188508	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7203546	0.87[EUR][1000 genomes]
rs7204040	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7206814	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73597252	0.89[EUR][1000 genomes]
rs754429	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8043855	1.00[CEU][hapmap]
rs804885	1.00[CEU][hapmap]
rs804889	0.82[ASN][1000 genomes]
rs804895	0.90[CEU][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs804897	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs804902	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs8049509	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs8052490	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8056972	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8059692	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs8177851	0.86[EUR][1000 genomes]
rs8177876	1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs8177939	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8177940	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8177942	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8177943	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8177945	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8177948	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8177950	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8177957	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs8177959	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs874437	0.89[EUR][1000 genomes]
rs935942	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9806918	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9921348	1.00[YRI][hapmap]
rs9923732	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9925940	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9925943	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9926174	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9929586	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9931063	1.00[YRI][hapmap]
rs9933184	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9938965	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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 target site	56 gene(s)	inside rSNPs	diseases
6	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv1062724	chr16:81052312-81137007	Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv2422360	chr16:81066033-81180727	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	esv2751615	chr16:81093099-81307599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12444137	C16orf46	Cis_1M	lymphoblastoid	RTeQTL
rs12444137	GCSH///LOC730107	Cis_1M	lymphoblastoid	RTeQTL
rs12444137	CENPN	Cis_1M	lymphoblastoid	RTeQTL
rs12444137	ATMIN	cis	Muscle Skeletal	GTEx
rs12444137	GCSH///LOC654085///LOC730107	Cis_1M	lymphoblastoid	RTeQTL
rs12444137	GCSH	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81109600-81110400	Flanking Active TSS	Dnd41	blood
2	chr16:81109800-81110400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr16:81109800-81110400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:81109800-81110400	Flanking Active TSS	K562	blood
5	chr16:81109800-81110400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr16:81109800-81110400	Flanking Active TSS	NHEK	skin
7	chr16:81109800-81111000	Active TSS	Stomach Smooth Muscle	stomach
8	chr16:81109800-81111200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:81109800-81111200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr16:81109800-81111200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:81109800-81111200	Active TSS	Brain Anterior Caudate	brain
12	chr16:81109800-81111200	Active TSS	Colon Smooth Muscle	Colon
13	chr16:81109800-81111400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr16:81109800-81111400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr16:81109800-81111400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr16:81109800-81111400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:81109800-81111400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr16:81109800-81111400	Active TSS	Fetal Brain Female	brain
19	chr16:81109800-81111400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr16:81109800-81111600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr16:81109800-81111600	Active TSS	Brain Angular Gyrus	brain
22	chr16:81109800-81111800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr16:81109800-81112000	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr16:81110000-81110400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr16:81110000-81110400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr16:81110000-81110400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:81110000-81110400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:81110000-81110400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:81110000-81110400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr16:81110000-81110400	Flanking Active TSS	Fetal Kidney	kidney
31	chr16:81110000-81110400	Flanking Active TSS	Placenta	Placenta
32	chr16:81110000-81110400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr16:81110000-81110400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr16:81110000-81110400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr16:81110000-81110400	Enhancers	Stomach Mucosa	stomach
36	chr16:81110000-81110400	Flanking Active TSS	HUVEC	blood vessel
37	chr16:81110000-81110800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:81110000-81111000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:81110000-81111000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr16:81110000-81111000	Active TSS	Fetal Muscle Trunk	muscle
41	chr16:81110000-81111000	Active TSS	HSMMtube	muscle
42	chr16:81110000-81111200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:81110000-81111200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:81110000-81111200	Active TSS	Liver	Liver
45	chr16:81110000-81111200	Active TSS	Brain Substantia Nigra	brain
46	chr16:81110000-81111200	Active TSS	Duodenum Mucosa	Duodenum
47	chr16:81110000-81111200	Active TSS	Fetal Brain Male	brain
48	chr16:81110000-81111200	Active TSS	Fetal Lung	lung
49	chr16:81110000-81111200	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr16:81110000-81111200	Active TSS	NHLF	lung

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