Variant report

Variant	rs9925943
Chromosome Location	chr16:81111007-81111008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:417)
CpG islands
(count:61)
Chromatin interactive
region (count:25)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr16:81110613-81111072	GM12878	blood:	n/a	n/a
2	ELF1	chr16:81110003-81111334	MCF-7	breast:	n/a	n/a
3	ZNF143	chr16:81110137-81111196	K562	blood:	n/a	n/a
4	CTCF	chr16:81110812-81111038	K562	blood:	n/a	n/a
5	REST	chr16:81110572-81111102	SK-N-SH	brain:	n/a	n/a
6	MAX	chr16:81110108-81111241	A549	lung:	n/a	chr16:81110826-81110835
7	SIX5	chr16:81110283-81111020	A549	lung:	n/a	n/a
8	MXI1	chr16:81110201-81111168	H1-hESC	embryonic stem cell:	n/a	n/a
9	POU2F2	chr16:81110878-81111075	GM12878	blood:	n/a	n/a
10	MAX	chr16:81109970-81111207	ECC-1	luminal epithelium:	n/a	chr16:81110826-81110835
11	CREB1	chr16:81110602-81111142	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr16:81110051-81111492	Hela-S3	cervix:	n/a	n/a
13	MAX	chr16:81110012-81111238	SK-N-SH	brain:	n/a	chr16:81110826-81110835
14	MAX	chr16:81110103-81111261	HepG2	liver:	n/a	chr16:81110826-81110835
15	TAF1	chr16:81110150-81111422	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr16:81110582-81111340	GM12891	blood:	n/a	n/a
17	ETS1	chr16:81110531-81111225	K562	blood:	n/a	chr16:81110865-81110875 chr16:81110864-81110873
18	ATF2	chr16:81110289-81111049	GM12878	blood:	n/a	chr16:81110870-81110881
19	FOXA1	chr16:81110582-81111306	HepG2	liver:	n/a	n/a
20	ELF1	chr16:81110152-81111312	K562	blood:	n/a	n/a
21	MAX	chr16:81110063-81111091	H1-hESC	embryonic stem cell:	n/a	chr16:81110826-81110835
22	FOXP2	chr16:81110611-81111036	PFSK-1	brain:	n/a	n/a
23	RCOR1	chr16:81110032-81111089	K562	blood:	n/a	n/a
24	POLR2A	chr16:81110236-81111530	ProgFib	skin:	n/a	n/a
25	ETS1	chr16:81110587-81111069	GM12878	blood:	n/a	chr16:81110865-81110875 chr16:81110864-81110873
26	GABPA	chr16:81110212-81111390	A549	lung:	n/a	n/a
27	SREBP1	chr16:81110281-81111147	HepG2	liver:	n/a	n/a
28	GABPA	chr16:81110151-81111300	K562	blood:	n/a	n/a
29	ELF1	chr16:81110677-81111117	A549	lung:	n/a	n/a
30	JUND	chr16:81110219-81111167	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr16:81110124-81111815	IMR90	lung:	n/a	n/a
32	MYC	chr16:81110615-81111254	MCF-7	breast:	n/a	chr16:81110826-81110835
33	POLR2A	chr16:81110158-81111425	GM12878	blood:	n/a	n/a
34	E2F4	chr16:81110943-81111173	GM12878	blood:	n/a	n/a
35	RELA	chr16:81110063-81111175	GM15510	blood:	n/a	n/a
36	SIN3AK20	chr16:81110524-81111062	PFSK-1	brain:	n/a	n/a
37	NFIC	chr16:81110699-81111192	HepG2	liver:	n/a	n/a
38	POLR2A	chr16:81110694-81111142	SK-N-MC	brain:	n/a	n/a
39	GABPA	chr16:81110331-81111142	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr16:81110960-81111110	GM12878	blood:	n/a	n/a
41	SIN3AK20	chr16:81110107-81111076	HepG2	liver:	n/a	n/a
42	SIN3AK20	chr16:81110409-81111199	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr16:81110178-81111387	GM19099	blood:	n/a	n/a
44	MAZ	chr16:81110103-81111286	K562	blood:	n/a	chr16:81110826-81110835
45	POLR2A	chr16:81110063-81111352	HCT-116	colon:	n/a	n/a
46	ZBTB7A	chr16:81110396-81111188	K562	blood:	n/a	n/a
47	FOXA1	chr16:81110752-81111054	T-47D	breast:	n/a	n/a
48	ATF2	chr16:81110173-81111048	GM12878	blood:	n/a	chr16:81110870-81110881
49	MXI1	chr16:81110117-81111280	GM12878	blood:	n/a	n/a
50	POLR2A	chr16:81110547-81111433	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81111003-81111053	SAEC	small airway:	n/a
2	chr16:81111003-81111053	BJ	skin:	n/a
3	chr16:81111003-81111053	T-47D	breast:	n/a
4	chr16:81111003-81111053	HepG2	liver:	n/a
5	chr16:81111003-81111053	NHDF-neo	bronchial:	n/a
6	chr16:81111003-81111053	Caco-2	colon:	n/a
7	chr16:81111003-81111053	AoSMC	blood vessel:	n/a
8	chr16:81111003-81111053	AG04450	lung:	fetal
9	chr16:81111003-81111053	GM12891	blood:	n/a
10	chr16:81111003-81111053	GM12892	blood:	n/a
11	chr16:81111003-81111053	ECC-1	luminal epithelium:	n/a
12	chr16:81111003-81111053	HUVEC	blood vessel:	n/a
13	chr16:81111003-81111053	U87	brain:	n/a
14	chr16:81111003-81111053	HCT-116	colon:	n/a
15	chr16:81111003-81111053	HEK293	kidney:	embryo
16	chr16:81111003-81111053	GM19239	blood:	n/a
17	chr16:81111003-81111053	PFSK-1	brain:	n/a
18	chr16:81111003-81111053	CMK	blood:	n/a
19	chr16:81111003-81111053	SK-N-SH_RA	brain:	n/a
20	chr16:81111003-81111053	HCPEpiC	choroid plexus:	n/a
21	chr16:81111003-81111053	MCF10A-Er-Src	breast:	n/a
22	chr16:81111003-81111053	HIPEpiC	eye:	n/a
23	chr16:81111003-81111053	AG10803	skin:	n/a
24	chr16:81111003-81111053	SK-N-MC	brain:	n/a
25	chr16:81111003-81111053	HEEpiC	esophagus:	n/a
26	chr16:81111003-81111053	GM06990	blood:	n/a
27	chr16:81111003-81111053	AG09309	skin:	n/a
28	chr16:81111003-81111053	NB4	blood:	n/a
29	chr16:81111003-81111053	LNCaP	prostate:	n/a
30	chr16:81111003-81111053	Jurkat	blood:	n/a
31	chr16:81111003-81111053	Hepatocyte	liver:	n/a
32	chr16:81111003-81111053	NHBE	bronchial:	n/a
33	chr16:81111003-81111053	GM12878	blood:	n/a
34	chr16:81111003-81111053	NH-A	brain:	n/a
35	chr16:81111003-81111053	ProgFib	skin:	n/a
36	chr16:81111003-81111053	HRCEpiC	kidney:	n/a
37	chr16:81111003-81111053	PANC-1	pancreas:	n/a
38	chr16:81111003-81111053	NT2-D1	testis:	n/a
39	chr16:81111003-81111053	HCF	heart:	n/a
40	chr16:81111003-81111053	RPTEC	kidney:	n/a
41	chr16:81111003-81111053	ovcar-3	ovarian:	n/a
42	chr16:81111003-81111053	HNPCEpiC	eye:	n/a
43	chr16:81111003-81111053	BE2_C	brain:	n/a
44	chr16:81111003-81111053	MCF-7	breast:	n/a
45	chr16:81111003-81111053	HAEpiC	amniotic membrane:	n/a
46	chr16:81111003-81111053	HRPEpiC	eye:	n/a
47	chr16:81111003-81111053	HL-60	blood:	n/a
48	chr16:81111003-81111053	A549	lung:	n/a
49	chr16:81111003-81111053	HRE	kidney:	n/a
50	chr16:81111003-81111053	SKMC	muscle:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81110521..81111395-chr17:48943331..48943869,2	Hela-S3	cervix:
2	chr16:81073990..81076535-chr16:81110612..81112776,2	MCF-7	breast:
3	chr16:81109459..81113813-chr16:81119137..81125158,9	MCF-7	breast:
4	chr16:81067728..81071580-chr16:81109086..81113987,13	K562	blood:
5	chr16:81109242..81112738-chr16:81125910..81131139,12	MCF-7	breast:
6	chr16:81096522..81104265-chr16:81107324..81112531,10	MCF-7	breast:
7	chr16:81039722..81044457-chr16:81106699..81112118,5	MCF-7	breast:
8	chr16:81102378..81105736-chr16:81109275..81112562,6	K562	blood:
9	chr16:81109518..81111024-chr16:81347327..81349963,2	K562	blood:
10	chr16:81038376..81043277-chr16:81108432..81112403,6	K562	blood:
11	chr16:81110380..81111256-chr16:88717091..88717642,2	Hela-S3	cervix:
12	chr16:81038376..81042418-chr16:81108432..81111584,4	K562	blood:
13	chr16:81109109..81111856-chr16:81126620..81130593,5	MCF-7	breast:
14	chr16:81110316..81112473-chr16:81346981..81348533,2	MCF-7	breast:
15	chr1:32109933..32110803-chr16:81110625..81111213,2	Hela-S3	cervix:
16	chr16:81068163..81070898-chr16:81108747..81112001,7	MCF-7	breast:
17	chr16:81067878..81071089-chr16:81109086..81112093,6	K562	blood:
18	chr16:81109214..81111850-chr16:81221258..81223565,2	MCF-7	breast:
19	chr16:81102378..81105736-chr16:81109334..81111887,5	K562	blood:
20	chr16:81110779..81112641-chr16:81230562..81234042,3	MCF-7	breast:
21	chr16:81109389..81113385-chr16:81129533..81131576,3	K562	blood:
22	chr1:249151906..249152570-chr16:81110792..81111379,2	Hela-S3	cervix:
23	chr16:81104152..81107798-chr16:81108570..81111013,4	MCF-7	breast:
24	chr16:81108969..81114076-chr16:81128464..81132360,7	K562	blood:
25	chr16:81067084..81072191-chr16:81106033..81112629,21	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATMIN-4	chr16:81110924-81111481	ENSG00000245059
2	lnc-ATMIN-4	chr16:81110924-81111481	ENSG00000245059.2

No data

Variant related genes	Relation type
C16orf46	TF binding region
C16orf46	CpG island
ENSG00000166451	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000166473	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000171163	Chromatin interaction
ENSG00000051523	Chromatin interaction
ENSG00000260643	Chromatin interaction
ENSG00000140905	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000235790	Chromatin interaction
ENSG00000162517	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000260495	Chromatin interaction
ENSG00000261838	Chromatin interaction
ENSG00000264078	Chromatin interaction
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1035541	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10459871	1.00[CEU][hapmap];0.86[CHD][hapmap];0.94[MEX][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10459872	1.00[CEU][hapmap];0.86[CHD][hapmap];0.94[MEX][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1048194	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs1050364	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10514512	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10514513	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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10514514	0.90[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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10514515	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11150341	0.80[JPT][hapmap]
rs11537	1.00[CEU][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11639681	0.81[JPT][hapmap]
rs11863158	0.84[AMR][1000 genomes]
rs11866124	0.90[CEU][hapmap]
rs12443549	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12444137	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12444747	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs12444969	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12444974	0.90[CEU][hapmap]
rs12445303	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];0.86[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12448806	0.86[EUR][1000 genomes]
rs12456	0.89[CEU][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs12598621	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12927239	0.89[CEU][hapmap];0.94[MEX][hapmap]
rs13185	0.90[CEU][hapmap]
rs1410	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1412	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1414	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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1563072	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs1563075	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1563077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16954505	0.89[CEU][hapmap]
rs16954513	0.89[CEU][hapmap]
rs16954572	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16954582	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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1814543	0.85[EUR][1000 genomes]
rs1965237	0.92[ASN][1000 genomes]
rs2257378	0.82[MEX][hapmap]
rs2278022	0.89[CEU][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2278024	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2287995	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2316730	0.89[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2316731	0.86[CEU][hapmap];0.91[EUR][1000 genomes]
rs2317085	0.94[EUR][1000 genomes]
rs2317086	0.92[EUR][1000 genomes]
rs2317087	0.86[EUR][1000 genomes]
rs2549891	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2549896	1.00[CEU][hapmap]
rs2549899	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs2602401	0.80[MEX][hapmap]
rs2602402	1.00[CEU][hapmap]
rs2602407	1.00[CEU][hapmap]
rs28391685	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28613188	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28672349	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2970076	1.00[CEU][hapmap];0.94[MEX][hapmap]
rs2970077	0.89[CEU][hapmap]
rs35096487	0.86[AMR][1000 genomes]
rs4306521	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4324141	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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4324142	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4324143	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4454990	0.89[CEU][hapmap];0.85[CHB][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.94[EUR][1000 genomes]
rs4888124	0.83[CHB][hapmap]
rs4889225	1.00[CEU][hapmap];0.94[GIH][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs4889227	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889229	0.89[EUR][1000 genomes]
rs4889230	0.89[EUR][1000 genomes]
rs4889231	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4889233	0.90[CEU][hapmap]
rs4889235	0.81[EUR][1000 genomes]
rs55939311	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56032321	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56119129	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56166222	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56198248	0.91[EUR][1000 genomes]
rs56286107	0.89[EUR][1000 genomes]
rs56395947	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57606521	0.80[EUR][1000 genomes]
rs58144189	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59177227	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59685942	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61082942	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6420421	0.90[CEU][hapmap]
rs7185637	0.87[EUR][1000 genomes]
rs7188508	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7194342	0.80[JPT][hapmap]
rs7203546	0.89[EUR][1000 genomes]
rs7204040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7206814	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73597252	0.88[EUR][1000 genomes]
rs754429	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8043828	0.81[JPT][hapmap]
rs8043855	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs804885	1.00[CEU][hapmap];0.88[MEX][hapmap]
rs804889	0.86[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs804895	0.90[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs804897	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs804902	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8049509	0.80[MEX][hapmap]
rs8052415	0.81[EUR][1000 genomes]
rs8052490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8053975	0.80[MEX][hapmap]
rs8056972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8059692	0.90[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs8062357	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs8062432	0.91[YRI][hapmap]
rs8177851	0.85[EUR][1000 genomes]
rs8177876	0.88[EUR][1000 genomes]
rs8177905	0.91[YRI][hapmap]
rs8177917	0.90[YRI][hapmap]
rs8177939	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8177940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8177942	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8177943	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8177945	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8177948	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8177950	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8177957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8177959	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];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs874437	0.88[EUR][1000 genomes]
rs935942	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs9806918	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9923732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9925940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9926174	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];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9929586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9933184	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9938965	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs9925943	ATMIN	cis	Muscle Skeletal	GTEx
rs9925943	CENPN	cis	lymphoblastoid	seeQTL
rs9925943	CENPN	Cis_1M	lymphoblastoid	RTeQTL
rs9925943	GCSH	cis	Muscle Skeletal	GTEx
rs9925943	C16orf46	Cis_1M	lymphoblastoid	RTeQTL
rs9925943	GCSH///LOC654085///LOC730107	Cis_1M	lymphoblastoid	RTeQTL
rs9925943	GCSH///LOC730107	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81109800-81111200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:81109800-81111200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:81109800-81111200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:81109800-81111200	Active TSS	Brain Anterior Caudate	brain
5	chr16:81109800-81111200	Active TSS	Colon Smooth Muscle	Colon
6	chr16:81109800-81111400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr16:81109800-81111400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr16:81109800-81111400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr16:81109800-81111400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:81109800-81111400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr16:81109800-81111400	Active TSS	Fetal Brain Female	brain
12	chr16:81109800-81111400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr16:81109800-81111600	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr16:81109800-81111600	Active TSS	Brain Angular Gyrus	brain
15	chr16:81109800-81111800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr16:81109800-81112000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr16:81110000-81111200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:81110000-81111200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:81110000-81111200	Active TSS	Liver	Liver
20	chr16:81110000-81111200	Active TSS	Brain Substantia Nigra	brain
21	chr16:81110000-81111200	Active TSS	Duodenum Mucosa	Duodenum
22	chr16:81110000-81111200	Active TSS	Fetal Brain Male	brain
23	chr16:81110000-81111200	Active TSS	Fetal Lung	lung
24	chr16:81110000-81111200	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr16:81110000-81111200	Active TSS	NHLF	lung
26	chr16:81110000-81111200	Active TSS	Osteobl	bone
27	chr16:81110000-81111400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:81110000-81111400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:81110000-81111400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:81110000-81111400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr16:81110000-81111400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:81110000-81111400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:81110000-81111400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr16:81110000-81111400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:81110000-81111400	Active TSS	Aorta	Aorta
36	chr16:81110000-81111400	Active TSS	Brain Germinal Matrix	brain
37	chr16:81110000-81111400	Active TSS	Fetal Intestine Small	intestine
38	chr16:81110000-81111400	Active TSS	Psoas Muscle	Psoas
39	chr16:81110000-81111400	Active TSS	Rectal Smooth Muscle	rectum
40	chr16:81110000-81111400	Active TSS	Right Ventricle	heart
41	chr16:81110000-81111400	Active TSS	NHDF-Ad	bronchial
42	chr16:81110000-81111600	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr16:81110000-81111600	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr16:81110000-81111600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr16:81110000-81111600	Active TSS	Colonic Mucosa	Colon
46	chr16:81110000-81111600	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr16:81110000-81111600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr16:81110000-81111600	Active TSS	Right Atrium	heart
49	chr16:81110000-81111600	Active TSS	A549	lung
50	chr16:81110000-81111600	Active TSS	NH-A	brain

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Variant report

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