Variant report

Variant	rs9830016
Chromosome Location	chr3:48282494-48282495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:531)
CpG islands
(count:122)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:48282480-48282630	GM12873	blood:	n/a	n/a
2	CHD2	chr3:48282296-48282937	K562	blood:	n/a	n/a
3	CTCF	chr3:48282480-48282630	HPF	lung:	n/a	n/a
4	TAF1	chr3:48282425-48282920	GM12892	blood:	n/a	n/a
5	ZC3H11A	chr3:48282235-48282641	K562	blood:	n/a	n/a
6	YY1	chr3:48282350-48282988	K562	blood:	n/a	chr3:48282521-48282535 chr3:48282748-48282762
7	MYC	chr3:48282381-48282822	HepG2	liver:	n/a	n/a
8	RCOR1	chr3:48282436-48282811	K562	blood:	n/a	n/a
9	POLR2A	chr3:48282347-48283114	GM12892	blood:	n/a	n/a
10	JUND	chr3:48282431-48282767	HepG2	liver:	n/a	n/a
11	MYC	chr3:48281378-48282896	H1-hESC	embryonic stem cell:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
12	RAD21	chr3:48282362-48282559	HepG2	liver:	n/a	n/a
13	PML	chr3:48282257-48283086	K562	blood:	n/a	n/a
14	ZNF143	chr3:48282256-48282907	GM12878	blood:	n/a	chr3:48282505-48282523
15	PAX5	chr3:48282290-48283349	GM12878	blood:	n/a	n/a
16	MYC	chr3:48281460-48282982	K562	blood:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
17	MAX	chr3:48281314-48282987	H1-hESC	embryonic stem cell:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
18	CTCF	chr3:48282480-48282630	GM12864	blood:	n/a	n/a
19	POLR2A	chr3:48282419-48282920	HepG2	liver:	n/a	n/a
20	TAF1	chr3:48282424-48283013	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr3:48282333-48283207	GM12892	blood:	n/a	n/a
22	POLR2A	chr3:48282393-48283063	PANC-1	pancreas:	n/a	n/a
23	CTCF	chr3:48282449-48282736	Fibrobl	skin:	n/a	n/a
24	POLR2A	chr3:48281360-48283242	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr3:48282271-48283027	SK-N-SH	brain:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
26	POLR2A	chr3:48282323-48283278	MCF-7	breast:	n/a	n/a
27	MYC	chr3:48282484-48282844	MCF-7	breast:	n/a	n/a
28	RFX5	chr3:48282325-48282994	GM12878	blood:	n/a	n/a
29	GTF2F1	chr3:48282250-48282833	K562	blood:	n/a	n/a
30	USF2	chr3:48282416-48282595	Hela-S3	cervix:	n/a	n/a
31	YY1	chr3:48282327-48283039	ECC-1	luminal epithelium:	n/a	chr3:48282521-48282535 chr3:48282748-48282762
32	CTCF	chr3:48282480-48282630	HL-60	blood:	n/a	n/a
33	CTCF	chr3:48282455-48282737	MCF-7	breast:	n/a	n/a
34	POLR2A	chr3:48282372-48282974	ProgFib	skin:	n/a	n/a
35	CCNT2	chr3:48282228-48282906	K562	blood:	n/a	n/a
36	E2F6	chr3:48282425-48283029	A549	lung:	n/a	chr3:48282760-48282769 chr3:48282751-48282761
37	MYC	chr3:48281550-48282970	K562	blood:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
38	POLR2A	chr3:48282280-48283024	U87	brain:	n/a	n/a
39	CTCF	chr3:48282480-48282630	SAEC	small airway:	n/a	n/a
40	POLR2A	chr3:48282405-48283042	GM15510	blood:	n/a	n/a
41	HEY1	chr3:48282331-48283016	HepG2	liver:	n/a	chr3:48282748-48282763 chr3:48282755-48282770
42	TCF7L2	chr3:48282394-48282701	Hela-S3	cervix:	n/a	n/a
43	SIX5	chr3:48282302-48282729	GM12878	blood:	n/a	n/a
44	MYC	chr3:48281472-48283001	K562	blood:	n/a	chr3:48282288-48282299 chr3:48282289-48282296
45	POLR2A	chr3:48282438-48282984	A549	lung:	n/a	n/a
46	TBP	chr3:48282336-48282939	HepG2	liver:	n/a	n/a
47	POLR2A	chr3:48281247-48283168	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr3:48282490-48283023	GM12878	blood:	n/a	n/a
49	SIX5	chr3:48282399-48282763	K562	blood:	n/a	n/a
50	ZNF143	chr3:48282216-48282883	K562	blood:	n/a	chr3:48282505-48282523

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48282474-48282524	HMEC	breast:	n/a
2	chr3:48282488-48282538	AG10803	skin:	n/a
3	chr3:48282488-48282538	MCF10A-Er-Src	breast:	n/a
4	chr3:48282488-48282538	HEEpiC	esophagus:	n/a
5	chr3:48282488-48282538	BE2_C	brain:	n/a
6	chr3:48282474-48282524	MCF-7	breast:	n/a
7	chr3:48282488-48282538	A549	lung:	n/a
8	chr3:48282488-48282538	GM12891	blood:	n/a
9	chr3:48282488-48282538	ECC-1	luminal epithelium:	n/a
10	chr3:48282474-48282524	GM12878	blood:	n/a
11	chr3:48282474-48282524	HRE	kidney:	n/a
12	chr3:48282488-48282538	GM12892	blood:	n/a
13	chr3:48282474-48282524	GM19239	blood:	n/a
14	chr3:48282488-48282538	NT2-D1	testis:	n/a
15	chr3:48282488-48282538	T-47D	breast:	n/a
16	chr3:48282488-48282538	HIPEpiC	eye:	n/a
17	chr3:48282488-48282538	AG09309	skin:	n/a
18	chr3:48282488-48282538	HMEC	breast:	n/a
19	chr3:48282488-48282538	SAEC	small airway:	n/a
20	chr3:48282488-48282538	GM06990	blood:	n/a
21	chr3:48282488-48282538	AG04450	lung:	fetal
22	chr3:48282488-48282538	PrEC	prostate:	n/a
23	chr3:48282474-48282524	GM06990	blood:	n/a
24	chr3:48282474-48282524	AG04449	skin:	fetal
25	chr3:48282474-48282524	IMR90	lung:	fetal
26	chr3:48282474-48282524	Jurkat	blood:	n/a
27	chr3:48282488-48282538	NHBE	bronchial:	n/a
28	chr3:48282474-48282524	SKMC	muscle:	n/a
29	chr3:48282474-48282524	HUVEC	blood vessel:	n/a
30	chr3:48282474-48282524	HCPEpiC	choroid plexus:	n/a
31	chr3:48282474-48282524	NB4	blood:	n/a
32	chr3:48282488-48282538	ovcar-3	ovarian:	n/a
33	chr3:48282474-48282524	GM12891	blood:	n/a
34	chr3:48282488-48282538	HCM	heart:	n/a
35	chr3:48282488-48282538	HPAEpiC	pulmonary alveolar:	n/a
36	chr3:48282474-48282524	HAEpiC	amniotic membrane:	n/a
37	chr3:48282474-48282524	U87	brain:	n/a
38	chr3:48282474-48282524	ECC-1	luminal epithelium:	n/a
39	chr3:48282488-48282538	Hepatocyte	liver:	n/a
40	chr3:48282474-48282524	MCF10A-Er-Src	breast:	n/a
41	chr3:48282488-48282538	PANC-1	pancreas:	n/a
42	chr3:48282488-48282538	HNPCEpiC	eye:	n/a
43	chr3:48282474-48282524	BE2_C	brain:	n/a
44	chr3:48282474-48282524	BJ	skin:	n/a
45	chr3:48282488-48282538	K562	blood:	n/a
46	chr3:48282488-48282538	HRPEpiC	eye:	n/a
47	chr3:48282488-48282538	Caco-2	colon:	n/a
48	chr3:48282488-48282538	Hela-S3	cervix:	n/a
49	chr3:48282488-48282538	SKMC	muscle:	n/a
50	chr3:48282474-48282524	SAEC	small airway:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:48228367..48230257-chr3:48281144..48282657,2	MCF-7	breast:
2	chr3:48226160..48232247-chr3:48279704..48285684,8	K562	blood:
3	chr3:48282380..48283987-chr3:48469620..48473031,3	MCF-7	breast:
4	chr3:48281213..48283691-chr3:48469389..48472428,3	K562	blood:
5	chr3:48282088..48283714-chr3:48470890..48472488,2	MCF-7	breast:
6	chr3:48281295..48284269-chr3:48341390..48344515,3	MCF-7	breast:
7	chr3:48281039..48283392-chr3:48513120..48515828,2	K562	blood:
8	chr3:48282372..48284186-chr3:49130575..49132684,2	K562	blood:
9	chr3:48280347..48282561-chr3:48591932..48593845,2	K562	blood:

No data

Variant related genes	Relation type
ZNF589	TF binding region
ZNF589	CpG island
ENSG00000164045	Chromatin interaction
ENSG00000164054	Chromatin interaction
ENSG00000172113	Chromatin interaction
ENSG00000164050	Chromatin interaction
ENSG00000198218	Chromatin interaction

Extended variants
information (count: 157 )
Associated
traits (count: 52 )

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs1045482	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs11130162	0.85[EUR][1000 genomes]
rs11130163	0.85[EUR][1000 genomes]
rs11130164	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1134867	0.80[EUR][1000 genomes]
rs11706221	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11706277	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11707606	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11707997	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11709691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11710257	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11710861	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];0.93[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11713476	0.80[EUR][1000 genomes]
rs11714176	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11714944	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11715776	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11715799	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11715876	0.84[EUR][1000 genomes]
rs11716371	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11716848	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11717716	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11718329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11718350	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11719365	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928691	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486935	0.92[JPT][hapmap]
rs12486944	0.91[JPT][hapmap]
rs13059037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13060020	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13061269	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13066044	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13066758	0.90[CEU][hapmap];0.89[CHB][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13067450	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13068265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13068288	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13069029	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13070210	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13071960	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13072018	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13079728	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13081169	0.95[CEU][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13081633	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13082158	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13082859	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13084616	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13085251	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13087050	0.83[JPT][hapmap]
rs13087929	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13090538	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13094727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13095983	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13097450	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13100815	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17647717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17786132	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2125482	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2361685	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2541	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3197223	0.95[CEU][hapmap];0.92[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34076262	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34225441	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34523942	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34589064	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34630841	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34728236	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34749846	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34946886	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35190747	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35297395	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35297486	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35411187	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35414021	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35456569	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35778847	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35802497	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35944878	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36020562	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36064160	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36075665	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36092070	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36121690	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3729577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731487	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731489	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731497	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731515	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731534	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731550	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731555	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3937	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];0.93[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4130522	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4131361	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4131362	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4371540	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4392440	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4404473	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4420898	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4479622	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4511915	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4511916	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4541431	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4619808	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4632568	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6442110	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs6442111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6775179	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6782166	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6787500	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs6791930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6793150	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6793223	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6793239	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6794644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6796343	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6796490	0.88[CEU][hapmap]
rs6800492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6801801	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6804986	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6806112	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs71323391	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71323394	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71323395	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71323396	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71323397	0.92[EUR][1000 genomes]
rs745116	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7614532	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7621785	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7624450	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7632297	0.95[CEU][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7636461	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7644414	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7645425	0.95[CEU][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7647817	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7648720	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7652233	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7653152	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7653336	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9311421	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs936426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs936427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9818937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9819094	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9825637	0.95[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9831531	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9833309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9834095	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9837228	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9847953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs9850672	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9853804	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9862131	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats 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 miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:52)

SNP	Gene	Cis/trans	Tissue	Source
rs9830016	MRPS18AP1	cis	Skin Sun Exposed Lower leg	GTEx
rs9830016	XCR1	cis	parietal	SCAN
rs9830016	CDC25A	cis	Adipose Subcutaneous	GTEx
rs9830016	NME6	cis	Esophagus Muscularis	GTEx
rs9830016	MRPS18AP1	cis	Heart Left Ventricle	GTEx
rs9830016	NME6	cis	Skin Sun Exposed Lower leg	GTEx
rs9830016	ZNF589	cis	Nerve Tibial	GTEx
rs9830016	PLXNB1	cis	parietal	SCAN
rs9830016	MRPS18AP1	cis	Stomach	GTEx
rs9830016	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs9830016	ZNF589	cis	Thyroid	GTEx
rs9830016	MRPS18AP1	cis	Thyroid	GTEx
rs9830016	ZNF589	cis	Esophagus Muscularis	GTEx
rs9830016	AMT	cis	parietal	SCAN
rs9830016	NME6	cis	lymphoblastoid	seeQTL
rs9830016	ZNF589	cis	Artery Aorta	GTEx
rs9830016	ZNF589	cis	multi-tissue	Pritchard
rs9830016	NME6	cis	Lymphoblastoid	GTEx
rs9830016	IQCF2	cis	parietal	SCAN
rs9830016	ZNF589	cis	parietal	SCAN
rs9830016	NME6	cis	Artery Tibial	GTEx
rs9830016	NME6	cis	multi-tissue	Pritchard
rs9830016	ZNF589	cis	cerebellum	SCAN
rs9830016	ZNF589	trans	brain	seeQTL
rs9830016	CDC25A	cis	Artery Tibial	GTEx
rs9830016	CDC25A	cis	Thyroid	GTEx
rs9830016	MRPS18AP1	cis	Artery Tibial	GTEx
rs9830016	CDC25A	cis	cerebellum	SCAN
rs9830016	ZNF589	cis	Esophagus Mucosa	GTEx
rs9830016	NME6	cis	cerebellum	SCAN
rs9830016	NME6	cis	Muscle Skeletal	GTEx
rs9830016	MRPS18AP1	cis	lung	GTEx
rs9830016	DALRD3	cis	cerebellum	SCAN
rs9830016	CDC25A	cis	Muscle Skeletal	GTEx
rs9830016	ZNF589	cis	Cerebellum	GTEx
rs9830016	ZNF589	cis	brain	seeQTL
rs9830016	ARIH2	cis	parietal	SCAN
rs9830016	MRPS18AP1	cis	Artery Aorta	GTEx
rs9830016	NME6	cis	Nerve Tibial	GTEx
rs9830016	ZNF589	cis	Brain Pons	GTEx
rs9830016	MRPS18AP1	cis	Nerve Tibial	GTEx
rs9830016	FCF1P2	cis	Artery Tibial	GTEx
rs9830016	RBM5	cis	cerebellum	SCAN
rs9830016	ZNF589	cis	Artery Tibial	GTEx
rs9830016	WDR6	cis	multi-tissue	Pritchard
rs9830016	ZNF589	cis	Temporal Cortex	GTEx
rs9830016	MRPS18AP1	cis	Esophagus Muscularis	GTEx
rs9830016	ZNF589	cis	Stomach	GTEx
rs9830016	ZNF589	cis	Skin Sun Exposed Lower leg	GTEx
rs9830016	ZNF589	cis	Frontal Cortex	GTEx
rs9830016	MRPS18AP1	cis	Esophagus Mucosa	GTEx
rs9830016	MRPS18AP1	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48281400-48282600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:48281800-48282600	Enhancers	Small Intestine	intestine
3	chr3:48281800-48282600	Flanking Active TSS	Dnd41	blood
4	chr3:48282000-48282600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:48282000-48282600	Flanking Active TSS	Fetal Brain Male	brain
6	chr3:48282000-48282600	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr3:48282000-48283200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr3:48282000-48283400	Active TSS	Brain Hippocampus Middle	brain
9	chr3:48282200-48282600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr3:48282200-48282600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:48282200-48282600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:48282200-48282600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr3:48282200-48282600	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr3:48282200-48282600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr3:48282200-48282600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:48282200-48282600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr3:48282200-48282600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:48282200-48282600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr3:48282200-48282600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr3:48282200-48282600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:48282200-48282600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:48282200-48282600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr3:48282200-48282600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr3:48282200-48282600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:48282200-48282600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:48282200-48282600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:48282200-48282600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr3:48282200-48282600	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr3:48282200-48282600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr3:48282200-48282600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr3:48282200-48282600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr3:48282200-48282600	Enhancers	Spleen	Spleen
33	chr3:48282200-48282600	Flanking Active TSS	HMEC	breast
34	chr3:48282200-48282600	Flanking Active TSS	HSMM	muscle
35	chr3:48282200-48282600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr3:48282200-48282800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr3:48282200-48282800	Active TSS	Fetal Muscle Trunk	muscle
38	chr3:48282200-48283000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr3:48282200-48283400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr3:48282200-48283400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:48282200-48283400	Active TSS	Aorta	Aorta
42	chr3:48282200-48283400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:48282200-48283400	Active TSS	Duodenum Mucosa	Duodenum
44	chr3:48282200-48283400	Active TSS	Fetal Kidney	kidney
45	chr3:48282200-48283400	Active TSS	Fetal Stomach	stomach
46	chr3:48282200-48283400	Active TSS	Left Ventricle	heart
47	chr3:48282200-48283400	Active TSS	Psoas Muscle	Psoas
48	chr3:48282200-48283400	Active TSS	Right Ventricle	heart
49	chr3:48282200-48283400	Active TSS	A549	lung
50	chr3:48282200-48283400	Active TSS	HUVEC	blood vessel

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