Variant report

Variant	rs57570045
Chromosome Location	chr1:146642048-146642049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:146641981-146642165	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr1:146641440-146642109	MCF10A-Er-Src	breast:	n/a	chr1:146641982-146641990 chr1:146641983-146641990 chr1:146641981-146641991 chr1:146641982-146641990
3	MAFK	chr1:146641456-146642170	HepG2	liver:	n/a	chr1:146641726-146641737 chr1:146641981-146641996 chr1:146641663-146641674 chr1:146641976-146641996 chr1:146641983-146641992 chr1:146641980-146641990 chr1:146641663-146641674
4	STAT3	chr1:146642001-146642054	MCF10A-Er-Src	breast:	n/a	n/a
5	MAFK	chr1:146641594-146642121	IMR90	lung:	n/a	chr1:146641726-146641737 chr1:146641981-146641996 chr1:146641663-146641674 chr1:146641976-146641996 chr1:146641983-146641992 chr1:146641980-146641990 chr1:146641663-146641674
6	MYC	chr1:146641455-146644653	MCF10A-Er-Src	breast:	n/a	chr1:146641486-146641496 chr1:146641981-146641990
7	EBF1	chr1:146642035-146642088	GM12878	blood:	n/a	n/a
8	MAFK	chr1:146641474-146642145	K562	blood:	n/a	chr1:146641726-146641737 chr1:146641981-146641996 chr1:146641663-146641674 chr1:146641976-146641996 chr1:146641983-146641992 chr1:146641980-146641990 chr1:146641663-146641674
9	FOS	chr1:146641606-146642095	MCF10A-Er-Src	breast:	n/a	chr1:146641982-146641990 chr1:146641983-146641990 chr1:146641981-146641991 chr1:146641982-146641990
10	FOS	chr1:146641532-146642175	MCF10A-Er-Src	breast:	n/a	chr1:146641982-146641990 chr1:146641983-146641990 chr1:146641981-146641991 chr1:146641982-146641990
11	JUND	chr1:146641872-146644597	K562	blood:	n/a	chr1:146641982-146641990 chr1:146641983-146641990 chr1:146641981-146641991 chr1:146641982-146641990
12	MAFK	chr1:146641491-146642151	HepG2	liver:	n/a	chr1:146641726-146641737 chr1:146641981-146641996 chr1:146641663-146641674 chr1:146641976-146641996 chr1:146641983-146641992 chr1:146641980-146641990 chr1:146641663-146641674
13	FOS	chr1:146641863-146642181	MCF10A-Er-Src	breast:	n/a	chr1:146641982-146641990 chr1:146641983-146641990 chr1:146641981-146641991 chr1:146641982-146641990

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:146642035-146642085	HepG2	liver:	n/a
2	chr1:146642035-146642085	GM12892	blood:	n/a
3	chr1:146642035-146642085	HAEpiC	amniotic membrane:	n/a
4	chr1:146642035-146642085	PrEC	prostate:	n/a
5	chr1:146642035-146642085	HMEC	breast:	n/a
6	chr1:146642035-146642085	HCM	heart:	n/a
7	chr1:146642035-146642085	SKMC	muscle:	n/a
8	chr1:146642035-146642085	AG09309	skin:	n/a
9	chr1:146642035-146642085	GM06990	blood:	n/a
10	chr1:146642035-146642085	Hepatocyte	liver:	n/a
11	chr1:146642035-146642085	AG09319	gingival:	n/a
12	chr1:146642035-146642085	AG04449	skin:	fetal
13	chr1:146642035-146642085	HUVEC	blood vessel:	n/a
14	chr1:146642035-146642085	HRCEpiC	kidney:	n/a
15	chr1:146642035-146642085	HCT-116	colon:	n/a
16	chr1:146642035-146642085	Jurkat	blood:	n/a
17	chr1:146642035-146642085	BE2_C	brain:	n/a
18	chr1:146642035-146642085	Caco-2	colon:	n/a
19	chr1:146642035-146642085	HCPEpiC	choroid plexus:	n/a
20	chr1:146642035-146642085	NT2-D1	testis:	n/a
21	chr1:146642035-146642085	GM19239	blood:	n/a
22	chr1:146642035-146642085	U87	brain:	n/a
23	chr1:146642035-146642085	RPTEC	kidney:	n/a
24	chr1:146642035-146642085	PANC-1	pancreas:	n/a
25	chr1:146642035-146642085	CMK	blood:	n/a
26	chr1:146642035-146642085	ProgFib	skin:	n/a
27	chr1:146642035-146642085	SK-N-SH	brain:	n/a
28	chr1:146642035-146642085	HRPEpiC	eye:	n/a
29	chr1:146642035-146642085	AG10803	skin:	n/a
30	chr1:146642035-146642085	AG04450	lung:	fetal
31	chr1:146642035-146642085	HCF	heart:	n/a
32	chr1:146642035-146642085	HEEpiC	esophagus:	n/a
33	chr1:146642035-146642085	HRE	kidney:	n/a
34	chr1:146642035-146642085	MCF10A-Er-Src	breast:	n/a
35	chr1:146642035-146642085	GM12891	blood:	n/a
36	chr1:146642035-146642085	ovcar-3	ovarian:	n/a
37	chr1:146642035-146642085	HPAEpiC	pulmonary alveolar:	n/a
38	chr1:146642035-146642085	HL-60	blood:	n/a
39	chr1:146642035-146642085	SAEC	small airway:	n/a
40	chr1:146642035-146642085	NHBE	bronchial:	n/a
41	chr1:146642035-146642085	HIPEpiC	eye:	n/a
42	chr1:146642035-146642085	NB4	blood:	n/a
43	chr1:146642035-146642085	SK-N-SH_RA	brain:	n/a
44	chr1:146642035-146642085	SK-N-MC	brain:	n/a
45	chr1:146642035-146642085	K562	blood:	n/a
46	chr1:146642035-146642085	NH-A	brain:	n/a
47	chr1:146642035-146642085	NHDF-neo	bronchial:	n/a
48	chr1:146642035-146642085	A549	lung:	n/a
49	chr1:146642035-146642085	Hela-S3	cervix:	n/a
50	chr1:146642035-146642085	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:146638044..146647556-chr1:146707628..146717159,48	MCF-7	breast:
2	chr1:146638562..146647588-chr1:146711453..146720391,22	K562	blood:
3	chr1:146553836..146557884-chr1:146641755..146644199,5	MCF-7	breast:
4	chr1:146554115..146557849-chr1:146637949..146646936,17	MCF-7	breast:
5	chr1:146554089..146558005-chr1:146638440..146645674,16	K562	blood:
6	chr1:146580735..146583076-chr1:146639979..146642635,2	MCF-7	breast:
7	chr1:146628338..146632381-chr1:146638568..146643066,4	K562	blood:
8	chr1:146554089..146558005-chr1:146640920..146646223,16	K562	blood:
9	chr1:146639294..146641009-chr1:146641764..146644028,3	K562	blood:
10	chr1:146637222..146651713-chr1:146712141..146718911,44	MCF-7	breast:
11	chr1:146640645..146647502-chr1:146711418..146719354,29	K562	blood:

Variant related genes	Relation type
ENSG00000273071	TF binding region
ENSG00000237188	TF binding region
ENSG00000273071	CpG island
ENSG00000237188	CpG island
ENSG00000131778	Chromatin interaction
ENSG00000131781	Chromatin interaction
ENSG00000230832	Chromatin interaction

Extended variants
information (count: 200 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:180)

rs_ID	r²[population]
rs10494242	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10494243	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11587333	0.82[AFR][1000 genomes]
rs11587707	0.82[AFR][1000 genomes]
rs17159869	0.91[AMR][1000 genomes]
rs17159878	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159880	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159882	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159883	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159890	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159909	0.91[AMR][1000 genomes]
rs17160790	0.91[AMR][1000 genomes]
rs17355733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355789	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17355796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355817	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355844	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355858	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17355899	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355913	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355927	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17355962	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17355969	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17356024	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17356031	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17359851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17359865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17359879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17360003	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17360031	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17360059	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17360066	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381176	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs28381180	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28381181	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs28381183	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381188	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381190	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381192	0.86[EUR][1000 genomes]
rs28381193	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28381194	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381195	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381200	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381203	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381204	1.00[EUR][1000 genomes]
rs28381205	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381206	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381209	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381225	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28381230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34838459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41295821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41312712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41480846	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55653839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55701100	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55705039	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55710129	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55797044	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55888723	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56004039	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56017341	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56047816	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56053798	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56074784	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56079929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56163155	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56175228	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56182581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56400874	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56410162	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56743621	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56833520	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57211600	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57247303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58423612	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58785568	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59665085	1.00[EUR][1000 genomes]
rs60280517	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60603428	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61374973	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61549987	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62623392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62623395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6658465	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6658763	0.82[AFR][1000 genomes]
rs6659191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6660848	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6663107	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6665580	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6665934	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6668865	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6674519	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6674643	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6678588	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6679406	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681389	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6684454	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6690541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700135	0.93[AFR][1000 genomes]
rs72691021	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72691048	0.92[EUR][1000 genomes]
rs72692977	0.85[EUR][1000 genomes]
rs72706446	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706447	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706448	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706449	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706450	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706451	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706452	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706453	1.00[EUR][1000 genomes]
rs72706456	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72706457	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706465	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706469	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706474	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706496	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706497	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706499	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72706501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72706502	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708518	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72708519	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708521	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708526	0.91[AMR][1000 genomes]
rs72708527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708535	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708548	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708563	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72708564	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72708565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708569	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708571	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708573	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708581	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72708582	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72708584	0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs72708586	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708592	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708595	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708598	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708600	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72710311	0.82[AFR][1000 genomes]
rs74119827	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519713	0.92[EUR][1000 genomes]
rs7520476	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7528172	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7532458	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537483	0.82[AFR][1000 genomes]
rs7541245	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7547138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7547698	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7556347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9725446	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
4	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
6	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
7	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
8	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
10	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
15	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
16	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
19	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146624800-146642600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:146631600-146642800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:146632000-146642400	Weak transcription	Colonic Mucosa	Colon
4	chr1:146632000-146642600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:146632200-146642400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:146632200-146642800	Weak transcription	Gastric	stomach
7	chr1:146632200-146643200	Weak transcription	Spleen	Spleen
8	chr1:146632400-146642200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:146632600-146643000	Weak transcription	Lung	lung
10	chr1:146632800-146642400	Weak transcription	Fetal Kidney	kidney
11	chr1:146633400-146642400	Weak transcription	Thymus	Thymus
12	chr1:146633400-146642600	Weak transcription	Aorta	Aorta
13	chr1:146633600-146642200	Weak transcription	Left Ventricle	heart
14	chr1:146633600-146642400	Weak transcription	Psoas Muscle	Psoas
15	chr1:146633800-146642600	Weak transcription	Brain Substantia Nigra	brain
16	chr1:146634400-146642600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:146634400-146642600	Weak transcription	Fetal Thymus	thymus
18	chr1:146635400-146642400	Weak transcription	Brain Angular Gyrus	brain
19	chr1:146638000-146642400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:146638400-146642400	Enhancers	Hela-S3	cervix
21	chr1:146638600-146642200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:146638600-146642200	Weak transcription	Adipose Nuclei	Adipose
23	chr1:146638600-146642200	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:146638600-146642200	Weak transcription	Pancreas	Pancrea
25	chr1:146638600-146642400	Enhancers	Fetal Intestine Large	intestine
26	chr1:146638600-146642800	Weak transcription	Esophagus	oesophagus
27	chr1:146638800-146642200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:146638800-146642600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:146639000-146642200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:146639000-146642600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:146639000-146642600	Enhancers	HSMM	muscle
32	chr1:146639200-146642200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:146639200-146642400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:146639400-146642400	Weak transcription	Primary B cells from cord blood	blood
35	chr1:146639400-146642400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:146639600-146642200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:146639600-146642200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr1:146639600-146642200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:146639600-146642400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:146639600-146642400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr1:146639600-146642400	Weak transcription	Primary T cells from cord blood	blood
42	chr1:146639600-146642400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:146639600-146642600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:146639600-146642600	Weak transcription	Fetal Stomach	stomach
45	chr1:146639600-146642800	Enhancers	Fetal Heart	heart
46	chr1:146640200-146643200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:146640400-146642200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:146640400-146642200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:146640400-146642600	Enhancers	Fetal Lung	lung
50	chr1:146640600-146642200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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