Variant report

Variant	rs72708503
Chromosome Location	chr1:146643163-146643164
allele	C/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	POLR2A	chr1:146642517-146644780	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:146642894-146644728	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXM1	chr1:146642995-146645134	MCF-7	breast:	n/a	n/a
4	MAX	chr1:146643029-146644757	NB4	blood:	n/a	n/a
5	CTCF	chr1:146643160-146643310	NHDF-neo	bronchial:	n/a	n/a
6	CTCF	chr1:146643120-146643270	AG04449	skin:	n/a	n/a
7	GTF2F1	chr1:146643148-146643648	Hela-S3	cervix:	n/a	n/a
8	SRF	chr1:146643040-146645113	MCF-7	breast:	n/a	chr1:146644121-146644139 chr1:146644512-146644525
9	MAZ	chr1:146642537-146643270	K562	blood:	n/a	n/a
10	CTCF	chr1:146642935-146645160	SK-N-SH	brain:	n/a	chr1:146644270-146644288 chr1:146644273-146644286 chr1:146644271-146644287
11	CUX1	chr1:146642510-146643368	K562	blood:	n/a	n/a
12	CTCF	chr1:146643120-146643270	NHLF	lung:	n/a	n/a
13	SIN3A	chr1:146643142-146645090	H1-hESC	embryonic stem cell:	n/a	chr1:146644268-146644277
14	CTCF	chr1:146642949-146644684	MCF-7	breast:	n/a	chr1:146644270-146644288 chr1:146644273-146644286 chr1:146644271-146644287
15	MAX	chr1:146642394-146645197	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:146643080-146643230	HMF	breast:	n/a	n/a
17	EGR1	chr1:146643051-146644640	MCF-7	breast:	n/a	chr1:146644222-146644236 chr1:146643988-146644001 chr1:146644276-146644286
18	MYC	chr1:146642403-146644545	K562	blood:	n/a	n/a
19	MYC	chr1:146642278-146644593	K562	blood:	n/a	n/a
20	CTCF	chr1:146643140-146643290	BJ	skin:	n/a	n/a
21	MYC	chr1:146643031-146643440	MCF10A-Er-Src	breast:	n/a	n/a
22	YY1	chr1:146643107-146643322	K562	blood:	n/a	n/a
23	TCF7L2	chr1:146642486-146644341	HEK293	kidney:	n/a	chr1:146642592-146642606
24	POLR2A	chr1:146643138-146644836	H1-hESC	embryonic stem cell:	n/a	n/a
25	TCF7L2	chr1:146642852-146644699	Hela-S3	cervix:	n/a	n/a
26	HEY1	chr1:146643107-146643386	HepG2	liver:	n/a	n/a
27	RCOR1	chr1:146642363-146644942	K562	blood:	n/a	n/a
28	POLR2A	chr1:146642992-146644561	K562	blood:	n/a	n/a
29	FOS	chr1:146643128-146643382	MCF10A-Er-Src	breast:	n/a	n/a
30	HDAC2	chr1:146643050-146644686	MCF-7	breast:	n/a	n/a
31	GATA3	chr1:146642506-146643168	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:146643080-146643230	AG10803	skin:	n/a	n/a
33	SMC3	chr1:146642902-146645542	SK-N-SH	brain:	n/a	chr1:146644272-146644286 chr1:146644273-146644283
34	TBP	chr1:146642550-146643369	K562	blood:	n/a	n/a
35	MYC	chr1:146641455-146644653	MCF10A-Er-Src	breast:	n/a	chr1:146641486-146641496 chr1:146641981-146641990
36	CHD1	chr1:146643060-146644457	GM12878	blood:	n/a	n/a
37	EP300	chr1:146642416-146643446	K562	blood:	n/a	chr1:146643407-146643416 chr1:146642573-146642587
38	WRNIP1	chr1:146642541-146644260	GM12878	blood:	n/a	n/a
39	CTCF	chr1:146643100-146643250	HPAF	blood vessel:	n/a	n/a
40	RFX5	chr1:146643055-146644555	Hela-S3	cervix:	n/a	n/a
41	SIN3AK20	chr1:146643045-146644690	MCF-7	breast:	n/a	n/a
42	MAZ	chr1:146642979-146644695	IMR90	lung:	n/a	n/a
43	NR2F2	chr1:146642499-146644704	MCF-7	breast:	n/a	n/a
44	UBTF	chr1:146642519-146644583	K562	blood:	n/a	n/a
45	MAX	chr1:146643037-146643396	K562	blood:	n/a	n/a
46	POLR2A	chr1:146643128-146643376	Hela-S3	cervix:	n/a	n/a
47	MAX	chr1:146642998-146644711	MCF-7	breast:	n/a	n/a
48	MXI1	chr1:146642631-146644609	GM12878	blood:	n/a	n/a
49	FOS	chr1:146642555-146643299	MCF10A-Er-Src	breast:	n/a	n/a
50	GATA2	chr1:146642312-146644594	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:146642336..146645437-chr1:146695438..146700629,5	MCF-7	breast:
2	chr1:146642817..146644911-chr1:146712966..146715242,14	K562	blood:
3	chr1:146550877..146552399-chr1:146642895..146644958,2	MCF-7	breast:
4	chr1:146642791..146647744-chr1:146694916..146698486,10	MCF-7	breast:
5	chr1:146638044..146647556-chr1:146707628..146717159,48	MCF-7	breast:
6	chr1:146638562..146647588-chr1:146711453..146720391,22	K562	blood:
7	chr1:146553836..146557884-chr1:146641755..146644199,5	MCF-7	breast:
8	chr1:146554115..146557849-chr1:146637949..146646936,17	MCF-7	breast:
9	chr1:146642575..146643419-chr1:146713923..146714900,4	MCF-7	breast:
10	chr1:146554089..146558005-chr1:146638440..146645674,16	K562	blood:
11	chr1:146554089..146558005-chr1:146640920..146646223,16	K562	blood:
12	chr1:146639294..146641009-chr1:146641764..146644028,3	K562	blood:
13	chr1:146637222..146651713-chr1:146712141..146718911,44	MCF-7	breast:
14	chr1:146640645..146647502-chr1:146711418..146719354,29	K562	blood:

Variant related genes	Relation type
ENSG00000271721	TF binding region
ENSG00000273071	TF binding region
ENSG00000237188	TF binding region
ENSG00000201142	Chromatin interaction
ENSG00000131778	Chromatin interaction
ENSG00000236806	Chromatin interaction
ENSG00000230832	Chromatin interaction
ENSG00000131781	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]
rs57570045	1.00[AFR][1000 genomes];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]
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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146632200-146643200	Weak transcription	Spleen	Spleen
2	chr1:146640200-146643200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:146641000-146646800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:146641400-146643600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:146641400-146643600	Bivalent/Poised TSS	HepG2	liver
6	chr1:146641400-146645600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:146641600-146643400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:146641600-146645200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:146641600-146645600	Active TSS	HMEC	breast
10	chr1:146641800-146643400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:146641800-146645200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:146642000-146643600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:146642000-146645000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:146642000-146645000	Active TSS	NHEK	skin
15	chr1:146642000-146645200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:146642000-146645200	Active TSS	Fetal Intestine Small	intestine
17	chr1:146642000-146646000	Active TSS	Right Ventricle	heart
18	chr1:146642200-146643200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:146642200-146643400	Flanking Active TSS	Dnd41	blood
20	chr1:146642200-146643600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:146642200-146643600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr1:146642200-146643600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:146642200-146643600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:146642200-146644800	Active TSS	K562	blood
25	chr1:146642200-146645000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr1:146642200-146645200	Active TSS	NHDF-Ad	bronchial
27	chr1:146642200-146646000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:146642200-146646000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:146642400-146643200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:146642400-146643200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:146642400-146643200	Flanking Active TSS	Fetal Brain Male	brain
32	chr1:146642400-146643200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr1:146642400-146643400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr1:146642400-146643400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr1:146642400-146643400	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr1:146642400-146644800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:146642400-146645000	Active TSS	Fetal Intestine Large	intestine
38	chr1:146642400-146645400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:146642400-146645600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:146642400-146645600	Active TSS	Colonic Mucosa	Colon
41	chr1:146642600-146643200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:146642600-146643200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr1:146642600-146643200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:146642600-146643200	Flanking Active TSS	Thymus	Thymus
45	chr1:146642600-146643400	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr1:146642600-146643400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr1:146642600-146643400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr1:146642600-146643400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr1:146642600-146643400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr1:146642600-146643400	Flanking Active TSS	Liver	Liver

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