Variant report

Variant	rs7187166
Chromosome Location	chr16:48278662-48278663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr16:48277955-48279114	IMR90	lung:	n/a	n/a
2	MXI1	chr16:48278016-48278852	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:48277880-48278732	MCF-7	breast:	n/a	n/a
4	MAX	chr16:48277887-48278771	SK-N-SH	brain:	n/a	chr16:48278237-48278247
5	ESRRA	chr16:48277349-48278672	GM12878	blood:	n/a	n/a
6	PAX5	chr16:48277912-48278665	GM12892	blood:	n/a	chr16:48278068-48278085
7	POLR2A	chr16:48277991-48278732	GM18951	blood:	n/a	n/a
8	POLR2A	chr16:48278000-48278673	A549	lung:	n/a	n/a
9	E2F6	chr16:48278049-48278677	K562	blood:	n/a	chr16:48278241-48278251
10	CTCF	chr16:48278540-48278690	GM12864	blood:	n/a	n/a
11	SIN3AK20	chr16:48277967-48278723	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr16:48278558-48278801	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:48277934-48278678	K562	blood:	n/a	n/a
14	SIN3A	chr16:48277978-48279077	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr16:48277985-48278915	MCF10A-Er-Src	breast:	n/a	chr16:48278237-48278247
16	POLR2A	chr16:48277994-48278762	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr16:48277933-48278766	Hela-S3	cervix:	n/a	n/a
18	MYC	chr16:48277915-48278981	K562	blood:	n/a	chr16:48278237-48278247
19	TAF1	chr16:48277994-48278773	HepG2	liver:	n/a	n/a
20	CCNT2	chr16:48278038-48278769	K562	blood:	n/a	n/a
21	POLR2A	chr16:48277958-48278739	NB4	blood:	n/a	n/a
22	POLR2A	chr16:48277901-48278801	K562	blood:	n/a	n/a
23	SP1	chr16:48277818-48278740	HCT-116	colon:	n/a	n/a
24	ZNF263	chr16:48278005-48278796	HEK293-T-REx	kidney:	n/a	n/a
25	POLR2A	chr16:48277985-48278780	GM12878	blood:	n/a	n/a
26	MXI1	chr16:48277989-48278816	HepG2	liver:	n/a	n/a
27	YY1	chr16:48278006-48278673	K562	blood:	n/a	chr16:48278233-48278244
28	SMARCB1	chr16:48278026-48278775	Hela-S3	cervix:	n/a	n/a
29	SIN3AK20	chr16:48277992-48278673	K562	blood:	n/a	n/a
30	POLR2A	chr16:48277977-48278801	GM12891	blood:	n/a	n/a
31	YY1	chr16:48277986-48278729	GM12878	blood:	n/a	chr16:48278233-48278244 chr16:48278673-48278689
32	ELF1	chr16:48277924-48278690	K562	blood:	n/a	chr16:48278184-48278197 chr16:48278188-48278197 chr16:48278187-48278196
33	MAX	chr16:48277914-48278712	MCF-7	breast:	n/a	chr16:48278237-48278247
34	HCFC1	chr16:48277850-48279210	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr16:48277876-48278826	A549	lung:	n/a	n/a
36	ZMIZ1	chr16:48278003-48278751	K562	blood:	n/a	n/a
37	POLR2A	chr16:48277958-48278902	GM18505	blood:	n/a	n/a
38	SPI1	chr16:48278632-48278879	GM12891	blood:	n/a	n/a
39	CREB1	chr16:48277968-48278847	GM12878	blood:	n/a	n/a
40	POLR2A	chr16:48277969-48278837	GM19193	blood:	n/a	n/a
41	UBTF	chr16:48277969-48278850	K562	blood:	n/a	n/a
42	MAX	chr16:48278023-48278949	GM12878	blood:	n/a	chr16:48278237-48278247
43	HDAC2	chr16:48278020-48278708	HepG2	liver:	n/a	n/a
44	POLR2A	chr16:48277887-48279438	MCF10A-Er-Src	breast:	n/a	n/a
45	TBP	chr16:48277995-48278785	K562	blood:	n/a	n/a
46	YY1	chr16:48278461-48278818	GM12878	blood:	n/a	chr16:48278673-48278689
47	SIN3AK20	chr16:48277986-48278740	HepG2	liver:	n/a	n/a
48	RCOR1	chr16:48277985-48278790	HepG2	liver:	n/a	n/a
49	MAX	chr16:48277979-48279022	K562	blood:	n/a	chr16:48278237-48278247
50	POLR2A	chr16:48277953-48278794	GM12892	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:48278654-48278704	HCF	heart:	n/a
2	chr16:48278654-48278704	Caco-2	colon:	n/a
3	chr16:48278654-48278704	NHBE	bronchial:	n/a
4	chr16:48278654-48278704	PFSK-1	brain:	n/a
5	chr16:48278654-48278704	HRCEpiC	kidney:	n/a
6	chr16:48278654-48278704	RPTEC	kidney:	n/a
7	chr16:48278654-48278704	NB4	blood:	n/a
8	chr16:48278654-48278704	IMR90	lung:	fetal
9	chr16:48278654-48278704	PANC-1	pancreas:	n/a
10	chr16:48278654-48278704	U87	brain:	n/a
11	chr16:48278654-48278704	AG04450	lung:	fetal
12	chr16:48278654-48278704	AG04449	skin:	fetal
13	chr16:48278654-48278704	K562	blood:	n/a
14	chr16:48278654-48278704	BJ	skin:	n/a
15	chr16:48278654-48278704	GM06990	blood:	n/a
16	chr16:48278654-48278704	HMEC	breast:	n/a
17	chr16:48278654-48278704	ProgFib	skin:	n/a
18	chr16:48278654-48278704	SK-N-MC	brain:	n/a
19	chr16:48278654-48278704	ovcar-3	ovarian:	n/a
20	chr16:48278654-48278704	HEEpiC	esophagus:	n/a
21	chr16:48278654-48278704	PrEC	prostate:	n/a
22	chr16:48278654-48278704	HRE	kidney:	n/a
23	chr16:48278654-48278704	LNCaP	prostate:	n/a
24	chr16:48278654-48278704	HPAEpiC	pulmonary alveolar:	n/a
25	chr16:48278654-48278704	HIPEpiC	eye:	n/a
26	chr16:48278654-48278704	CMK	blood:	n/a
27	chr16:48278654-48278704	GM12891	blood:	n/a
28	chr16:48278654-48278704	GM19239	blood:	n/a
29	chr16:48278654-48278704	HRPEpiC	eye:	n/a
30	chr16:48278654-48278704	HCPEpiC	choroid plexus:	n/a
31	chr16:48278654-48278704	HCM	heart:	n/a
32	chr16:48278654-48278704	HNPCEpiC	eye:	n/a
33	chr16:48278654-48278704	AoSMC	blood vessel:	n/a
34	chr16:48278654-48278704	BE2_C	brain:	n/a
35	chr16:48278654-48278704	HepG2	liver:	n/a
36	chr16:48278654-48278704	HEK293	kidney:	embryo
37	chr16:48278654-48278704	HAEpiC	amniotic membrane:	n/a
38	chr16:48278654-48278704	Jurkat	blood:	n/a
39	chr16:48278654-48278704	SK-N-SH	brain:	n/a
40	chr16:48278654-48278704	NHDF-neo	bronchial:	n/a
41	chr16:48278654-48278704	SK-N-SH_RA	brain:	n/a
42	chr16:48278654-48278704	GM12878	blood:	n/a
43	chr16:48278654-48278704	ECC-1	luminal epithelium:	n/a
44	chr16:48278654-48278704	A549	lung:	n/a
45	chr16:48278654-48278704	NT2-D1	testis:	n/a
46	chr16:48278654-48278704	HUVEC	blood vessel:	n/a
47	chr16:48278654-48278704	AG09319	gingival:	n/a
48	chr16:48278654-48278704	T-47D	breast:	n/a
49	chr16:48278654-48278704	HL-60	blood:	n/a
50	chr16:48278654-48278704	Hepatocyte	liver:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:47175994..47177897-chr16:48278487..48280949,2	MCF-7	breast:
2	chr16:48278224..48281613-chr16:48642327..48645557,3	MCF-7	breast:
3	chr16:48277878..48279864-chr16:48279870..48282600,2	K562	blood:
4	chr16:48277094..48279506-chr16:48417848..48419466,2	K562	blood:
5	chr16:48264506..48269686-chr16:48276668..48281172,8	MCF-7	breast:

No data

Variant related genes	Relation type
ABCC11	TF binding region
ABCC11	CpG island
ENSG00000171208	Chromatin interaction
ENSG00000196470	Chromatin interaction
ENSG00000102921	Chromatin interaction
ENSG00000121270	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10221107	1.00[CHD][hapmap]
rs10521167	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11076564	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs11076565	1.00[CHD][hapmap]
rs11552148	1.00[CHD][hapmap]
rs11859911	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11861348	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11861379	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11862480	0.91[CEU][hapmap]
rs11863133	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11863233	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11863236	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11863414	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11865596	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11866225	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11866312	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13331031	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13332304	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13334052	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13334480	1.00[CEU][hapmap]
rs13335504	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs13336542	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13336625	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13336759	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13337955	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13338105	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16945972	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16945974	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16945988	0.93[ASW][hapmap];0.83[CEU][hapmap];0.83[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16945990	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16946006	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16946011	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16946014	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16946122	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs2129245	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs28376623	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28503414	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28515165	0.86[EUR][1000 genomes]
rs28605399	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28617382	1.00[CHD][hapmap]
rs28626252	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28654935	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28684834	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28696036	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28842015	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28849445	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4325548	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4340327	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5017203	0.97[EUR][1000 genomes]
rs58938063	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60431412	1.00[EUR][1000 genomes]
rs6500385	1.00[CHD][hapmap]
rs70973926	0.80[EUR][1000 genomes]
rs7184452	0.89[EUR][1000 genomes]
rs7186982	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7191181	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7195606	1.00[CEU][hapmap];0.90[YRI][hapmap]
rs7202089	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203378	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203432	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73540901	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73542903	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73542904	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73546434	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73546437	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73546439	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73555628	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73555630	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73555643	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7359477	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8043685	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8043751	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8046408	1.00[CHD][hapmap]
rs8047397	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8049398	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8051441	1.00[CHD][hapmap]
rs8051546	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8051852	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8054117	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8054314	1.00[CHD][hapmap]
rs8054444	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8055028	1.00[CHD][hapmap]
rs8055128	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8056100	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8056143	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8056692	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8058396	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8060696	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8060722	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8062407	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302758	1.00[CHD][hapmap]
rs9926206	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9927756	1.00[CEU][hapmap]
rs9932328	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9934833	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935854	1.00[CEU][hapmap]
rs9938414	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9938490	1.00[CHD][hapmap]
rs9939742	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs9940038	1.00[CHD][hapmap]
rs9941123	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
4	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7187166	GPT2	cis	parietal	SCAN
rs7187166	LONP2	cis	parietal	SCAN
rs7187166	LONP2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48277400-48278800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:48277400-48278800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr16:48277400-48278800	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr16:48277400-48279000	Active TSS	Colon Smooth Muscle	Colon
5	chr16:48277400-48279000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr16:48277400-48279000	Active TSS	Rectal Smooth Muscle	rectum
7	chr16:48277400-48279200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr16:48277400-48279200	Active TSS	A549	lung
9	chr16:48277400-48279400	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr16:48277400-48281400	Active TSS	GM12878-XiMat	blood
11	chr16:48277600-48278800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:48277600-48278800	Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr16:48277600-48278800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:48277600-48278800	Active TSS	Brain Cingulate Gyrus	brain
15	chr16:48277600-48278800	Active TSS	Brain Hippocampus Middle	brain
16	chr16:48277600-48278800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:48277600-48278800	Active TSS	Fetal Brain Female	brain
18	chr16:48277600-48279000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:48277600-48279000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr16:48277600-48279000	Active TSS	Brain Angular Gyrus	brain
21	chr16:48277600-48279000	Active TSS	Colonic Mucosa	Colon
22	chr16:48277600-48279000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr16:48277600-48279000	Active TSS	Fetal Kidney	kidney
24	chr16:48277600-48279000	Active TSS	Fetal Lung	lung
25	chr16:48277600-48279000	Active TSS	Placenta	Placenta
26	chr16:48277600-48279200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:48277600-48279200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr16:48277600-48279200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:48277600-48279200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr16:48277600-48279200	Active TSS	Brain Anterior Caudate	brain
31	chr16:48277600-48279200	Active TSS	Esophagus	oesophagus
32	chr16:48277600-48279200	Active TSS	Psoas Muscle	Psoas
33	chr16:48277600-48279200	Active TSS	Stomach Mucosa	stomach
34	chr16:48277600-48279200	Bivalent/Poised TSS	HepG2	liver
35	chr16:48277600-48279400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr16:48277600-48279400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:48277600-48279400	Active TSS	Fetal Intestine Large	intestine
38	chr16:48277600-48279600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr16:48277600-48280000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr16:48277600-48280200	Active TSS	Right Atrium	heart
41	chr16:48277800-48278800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr16:48277800-48278800	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr16:48277800-48278800	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr16:48277800-48278800	Active TSS	Liver	Liver
45	chr16:48277800-48278800	Active TSS	Brain Germinal Matrix	brain
46	chr16:48277800-48278800	Active TSS	Fetal Muscle Leg	muscle
47	chr16:48277800-48278800	Active TSS	Fetal Thymus	thymus
48	chr16:48277800-48278800	Active TSS	HUVEC	blood vessel
49	chr16:48277800-48278800	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr16:48277800-48278800	Active TSS	NH-A	brain

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