Variant report

Variant	rs940045
Chromosome Location	chr3:49449638-49449639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:423)
CpG islands
(count:122)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr3:49449288-49449974	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:49449615-49450053	A549	lung:	n/a	n/a
3	POLR2A	chr3:49448988-49450095	NB4	blood:	n/a	n/a
4	POU2F2	chr3:49449067-49450088	GM12878	blood:	n/a	n/a
5	ELF1	chr3:49449533-49449961	A549	lung:	n/a	n/a
6	POLR2A	chr3:49449193-49450035	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr3:49449098-49450668	ProgFib	skin:	n/a	n/a
8	RELA	chr3:49449156-49450083	GM15510	blood:	n/a	n/a
9	YY1	chr3:49449563-49449693	K562	blood:	n/a	n/a
10	TAF1	chr3:49449539-49450004	GM12892	blood:	n/a	n/a
11	ZKSCAN1	chr3:49449167-49449931	Hela-S3	cervix:	n/a	n/a
12	MBD4	chr3:49449438-49449845	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:49449219-49450086	HepG2	liver:	n/a	n/a
14	SP1	chr3:49449158-49449816	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr3:49449226-49449956	K562	blood:	n/a	n/a
16	TAF1	chr3:49449148-49450141	A549	lung:	n/a	n/a
17	CEBPB	chr3:49449362-49449824	A549	lung:	n/a	n/a
18	MXI1	chr3:49448142-49450226	GM12878	blood:	n/a	n/a
19	ELF1	chr3:49448782-49450250	GM12878	blood:	n/a	chr3:49448906-49448918 chr3:49449046-49449055 chr3:49449086-49449098
20	SP1	chr3:49449227-49450063	A549	lung:	n/a	n/a
21	YY1	chr3:49449404-49450126	SK-N-SH_RA	brain:	n/a	n/a
22	POLR2A	chr3:49449132-49450396	Raji	blood:	n/a	n/a
23	NRF1	chr3:49449339-49449972	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr3:49449191-49449917	HepG2	liver:	n/a	n/a
25	POLR2A	chr3:49449017-49450266	MCF-7	breast:	n/a	n/a
26	JUND	chr3:49449524-49449893	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF384	chr3:49449569-49449826	K562	blood:	n/a	n/a
28	PML	chr3:49449222-49450147	GM12878	blood:	n/a	n/a
29	MYC	chr3:49449625-49449973	K562	blood:	n/a	n/a
30	NFYA	chr3:49449247-49449875	Hela-S3	cervix:	n/a	chr3:49449565-49449577 chr3:49449568-49449578
31	WRNIP1	chr3:49449552-49450958	GM12878	blood:	n/a	n/a
32	POLR2A	chr3:49449112-49450071	MCF10A-Er-Src	breast:	n/a	n/a
33	NFIC	chr3:49449426-49449938	HepG2	liver:	n/a	n/a
34	POLR2A	chr3:49449057-49450167	H1-neurons	neurons:	n/a	n/a
35	E2F4	chr3:49449140-49450065	K562	blood:	n/a	chr3:49449223-49449233
36	ELF1	chr3:49448715-49450082	GM12878	blood:	n/a	chr3:49448906-49448918 chr3:49449046-49449055 chr3:49449086-49449098
37	HDAC2	chr3:49449480-49449963	H1-hESC	embryonic stem cell:	n/a	n/a
38	NFIC	chr3:49449491-49450180	ECC-1	luminal epithelium:	n/a	n/a
39	YY1	chr3:49449612-49450144	A549	lung:	n/a	n/a
40	MAX	chr3:49448496-49450106	Hela-S3	cervix:	n/a	chr3:49448867-49448876 chr3:49448924-49448934 chr3:49449585-49449594
41	ZNF143	chr3:49448983-49450011	GM12878	blood:	n/a	chr3:49449589-49449604
42	EP300	chr3:49449017-49449968	HepG2	liver:	n/a	n/a
43	POLR2A	chr3:49449184-49450060	K562	blood:	n/a	n/a
44	ZBTB33	chr3:49449565-49449766	HCT-116	colon:	n/a	n/a
45	TCF12	chr3:49449473-49449948	GM12878	blood:	n/a	n/a
46	MYC	chr3:49448711-49450074	NB4	blood:	n/a	chr3:49448867-49448876 chr3:49448924-49448934 chr3:49449585-49449594
47	PML	chr3:49449450-49450006	MCF-7	breast:	n/a	n/a
48	POLR2A	chr3:49449137-49450065	HepG2	liver:	n/a	n/a
49	TAF1	chr3:49449139-49450004	K562	blood:	n/a	n/a
50	NFYA	chr3:49449458-49449841	GM12878	blood:	n/a	chr3:49449565-49449577 chr3:49449568-49449578

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:49449608-49449658	CMK	blood:	n/a
2	chr3:49449608-49449658	ovcar-3	ovarian:	n/a
3	chr3:49449599-49449649	GM12891	blood:	n/a
4	chr3:49449608-49449658	AG09319	gingival:	n/a
5	chr3:49449599-49449649	GM19239	blood:	n/a
6	chr3:49449599-49449649	HNPCEpiC	eye:	n/a
7	chr3:49449599-49449649	NHBE	bronchial:	n/a
8	chr3:49449599-49449649	H1-hESC	embryonic stem cell:	embryo
9	chr3:49449608-49449658	Caco-2	colon:	n/a
10	chr3:49449608-49449658	AG09309	skin:	n/a
11	chr3:49449608-49449658	PANC-1	pancreas:	n/a
12	chr3:49449599-49449649	PFSK-1	brain:	n/a
13	chr3:49449599-49449649	SKMC	muscle:	n/a
14	chr3:49449608-49449658	MCF-7	breast:	n/a
15	chr3:49449608-49449658	NHBE	bronchial:	n/a
16	chr3:49449608-49449658	A549	lung:	n/a
17	chr3:49449608-49449658	HCF	heart:	n/a
18	chr3:49449608-49449658	AoSMC	blood vessel:	n/a
19	chr3:49449608-49449658	HRPEpiC	eye:	n/a
20	chr3:49449608-49449658	HRE	kidney:	n/a
21	chr3:49449599-49449649	HRCEpiC	kidney:	n/a
22	chr3:49449599-49449649	HCPEpiC	choroid plexus:	n/a
23	chr3:49449599-49449649	PrEC	prostate:	n/a
24	chr3:49449608-49449658	Hela-S3	cervix:	n/a
25	chr3:49449608-49449658	NH-A	brain:	n/a
26	chr3:49449608-49449658	U87	brain:	n/a
27	chr3:49449599-49449649	AG04450	lung:	fetal
28	chr3:49449608-49449658	HNPCEpiC	eye:	n/a
29	chr3:49449608-49449658	BJ	skin:	n/a
30	chr3:49449599-49449649	PANC-1	pancreas:	n/a
31	chr3:49449608-49449658	AG10803	skin:	n/a
32	chr3:49449599-49449649	Caco-2	colon:	n/a
33	chr3:49449599-49449649	U87	brain:	n/a
34	chr3:49449599-49449649	GM12892	blood:	n/a
35	chr3:49449599-49449649	Hela-S3	cervix:	n/a
36	chr3:49449608-49449658	HMEC	breast:	n/a
37	chr3:49449608-49449658	HL-60	blood:	n/a
38	chr3:49449608-49449658	HEK293	kidney:	embryo
39	chr3:49449608-49449658	SKMC	muscle:	n/a
40	chr3:49449599-49449649	NHDF-neo	bronchial:	n/a
41	chr3:49449599-49449649	HepG2	liver:	n/a
42	chr3:49449599-49449649	Jurkat	blood:	n/a
43	chr3:49449599-49449649	SAEC	small airway:	n/a
44	chr3:49449599-49449649	GM06990	blood:	n/a
45	chr3:49449608-49449658	AG04449	skin:	fetal
46	chr3:49449608-49449658	GM06990	blood:	n/a
47	chr3:49449599-49449649	MCF10A-Er-Src	breast:	n/a
48	chr3:49449608-49449658	NB4	blood:	n/a
49	chr3:49449599-49449649	ovcar-3	ovarian:	n/a
50	chr3:49449608-49449658	HepG2	liver:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49375112..49379681-chr3:49446166..49452291,17	K562	blood:
2	chr3:49376293..49379620-chr3:49448851..49451356,3	MCF-7	breast:
3	chr3:49130643..49132910-chr3:49449200..49450809,2	MCF-7	breast:
4	chr17:6939385..6939991-chr3:49449307..49450026,2	Hela-S3	cervix:
5	chr3:49197673..49199686-chr3:49449232..49451070,2	K562	blood:
6	chr1:161147148..161147822-chr3:49449051..49449974,2	HCT-116	colon:
7	chr3:49203572..49205247-chr3:49448132..49451113,3	MCF-7	breast:
8	chr3:49064721..49066912-chr3:49446904..49449709,2	K562	blood:
9	chr3:49394592..49396828-chr3:49447365..49450223,2	K562	blood:
10	chr3:48955974..48957797-chr3:49448912..49450941,2	K562	blood:
11	chr3:49448736..49451146-chr3:49507489..49509395,2	MCF-7	breast:
12	chr3:49130018..49132497-chr3:49447157..49449829,4	K562	blood:
13	chr3:49447402..49451449-chr3:49505916..49509646,7	K562	blood:
14	chr3:49448668..49451033-chr3:49723995..49726731,2	MCF-7	breast:
15	chr1:153508083..153508629-chr3:49449020..49449991,2	Hela-S3	cervix:
16	chr3:49057571..49058186-chr3:49449519..49450300,2	NB4	blood:
17	chr3:49448910..49451821-chr3:49459047..49464749,5	MCF-7	breast:
18	chr3:49449505..49450092-chr3:156892357..156893271,2	Hela-S3	cervix:
19	chr3:49058292..49060438-chr3:49448532..49450849,2	MCF-7	breast:
20	chr3:49375789..49379333-chr3:49446166..49450939,13	K562	blood:
21	chr3:49449092..49449979-chr5:134181300..134182005,2	HCT-116	colon:
22	chr3:33480831..33481615-chr3:49448893..49449688,2	Hela-S3	cervix:
23	chr3:49448236..49450769-chr3:49505936..49509558,3	MCF-7	breast:
24	chr3:49377084..49379212-chr3:49447955..49450362,2	MCF-7	breast:
25	chr1:46806041..46806963-chr3:49449446..49450071,2	NB4	blood:
26	chr3:49449318..49450076-chr3:136537776..136538465,2	Hela-S3	cervix:
27	chr1:155196808..155197366-chr3:49448953..49449687,2	Hela-S3	cervix:
28	chr3:49054710..49056578-chr3:49447542..49450495,2	K562	blood:
29	chr3:49447402..49452044-chr3:49506038..49509646,9	K562	blood:
30	chr3:49131116..49132928-chr3:49448988..49450506,2	MCF-7	breast:
31	chr3:49129916..49132990-chr3:49447157..49451022,6	K562	blood:
32	chr3:49448963..49449881-chrX:48814797..48815775,2	Hela-S3	cervix:
33	chr3:49447469..49451415-chr3:49463621..49468909,12	K562	blood:

No data

Variant related genes	Relation type
RHOA	TF binding region
TCTA	TF binding region
RHOA	CpG island
TCTA	CpG island
ENSG00000207605	Chromatin interaction
ENSG00000177479	Chromatin interaction
ENSG00000243176	Chromatin interaction
ENSG00000270441	Chromatin interaction
ENSG00000199032	Chromatin interaction
ENSG00000198218	Chromatin interaction
ENSG00000174327	Chromatin interaction
ENSG00000181904	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000153560	Chromatin interaction
ENSG00000272434	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000145020	Chromatin interaction
ENSG00000235261	Chromatin interaction
ENSG00000168917	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000068308	Chromatin interaction
ENSG00000158850	Chromatin interaction
ENSG00000114316	Chromatin interaction
ENSG00000233276	Chromatin interaction
ENSG00000178035	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000173531	Chromatin interaction
ENSG00000173402	Chromatin interaction
ENSG00000177352	Chromatin interaction
ENSG00000221883	Chromatin interaction
ENSG00000145029	Chromatin interaction
ENSG00000117481	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 35 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1009051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10154992	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs10155014	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865956	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs1106620	0.90[EUR][1000 genomes]
rs11130186	0.91[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs11130190	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11130208	1.00[CHD][hapmap];0.83[LWK][hapmap];0.92[MKK][hapmap]
rs11130211	1.00[CHB][hapmap]
rs11710434	0.82[EUR][1000 genomes]
rs11715060	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11719762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720542	0.82[EUR][1000 genomes]
rs11720657	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11923032	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11928090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs12637313	1.00[CHD][hapmap]
rs13096474	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13322887	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs1464569	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1491983	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[LWK][hapmap];0.92[MKK][hapmap]
rs17080510	1.00[CHB][hapmap]
rs1982861	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029591	1.00[CHD][hapmap];0.89[MKK][hapmap]
rs2140270	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2177268	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2312462	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329025	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3448	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34890793	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap]
rs3866330	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3870339	0.95[CEU][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3870341	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3905330	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4052546	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4241405	1.00[CHD][hapmap];0.89[MKK][hapmap]
rs4241407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4855837	0.81[EUR][1000 genomes]
rs4855853	0.82[EUR][1000 genomes]
rs4855858	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4855869	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4955413	0.87[EUR][1000 genomes]
rs4955417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];1.00[ASN][1000 genomes]
rs4955424	0.88[EUR][1000 genomes]
rs4955425	0.87[EUR][1000 genomes]
rs4955430	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs4955443	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs56127630	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57273516	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62259933	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62259943	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62259944	0.93[EUR][1000 genomes]
rs62259947	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62261183	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62261249	0.84[EUR][1000 genomes]
rs6446257	0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs6446262	0.91[EUR][1000 genomes]
rs6446275	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6446285	1.00[CHD][hapmap]
rs6769744	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6775069	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6778080	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs6783003	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6784203	0.88[EUR][1000 genomes]
rs6785045	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6790105	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6796147	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs6805609	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6809204	0.86[EUR][1000 genomes]
rs6809851	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs72934271	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73088137	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7355800	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7374731	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7613491	0.89[EUR][1000 genomes]
rs7619016	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs7619789	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620024	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7622786	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7625857	0.82[EUR][1000 genomes]
rs7626076	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap]
rs7638750	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7644148	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs7647973	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7648995	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7651372	0.87[EUR][1000 genomes]
rs7653505	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs8897	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9654010	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs974495	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9757181	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9809237	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9812360	0.84[EUR][1000 genomes]
rs9817807	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9842132	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9847585	0.81[AFR][1000 genomes]
rs9860055	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9860285	0.82[EUR][1000 genomes]
rs9861027	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9862534	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871024	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs9881860	1.00[CEU][hapmap];0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:35)

SNP	Gene	Cis/trans	Tissue	Source
rs940045	DALRD3	cis	cerebellum	SCAN
rs940045	AMT	cis	cerebellum	SCAN
rs940045	P4HTM	cis	parietal	SCAN
rs940045	DALRD3	cis	parietal	SCAN
rs940045	ZNF589	cis	parietal	SCAN
rs940045	WDR6	cis	lung	GTEx
rs940045	GMPPB	cis	parietal	SCAN
rs940045	RNF123	cis	parietal	SCAN
rs940045	AMT	cis	Artery Tibial	GTEx
rs940045	WDR6	cis	parietal	SCAN
rs940045	AMT	Cis_1M	lymphoblastoid	RTeQTL
rs940045	GPX1	cis	parietal	SCAN
rs940045	AMT	cis	parietal	SCAN
rs940045	AMT	cis	Esophagus Mucosa	GTEx
rs940045	AMT	cis	Esophagus Muscularis	GTEx
rs940045	AMT	cis	Nerve Tibial	GTEx
rs940045	AMT	cis	Skin Sun Exposed Lower leg	GTEx
rs940045	WDR6	cis	Nerve Tibial	GTEx
rs940045	AMT	cis	Muscle Skeletal	GTEx
rs940045	NICN1	cis	Thyroid	GTEx
rs940045	AMT	cis	Thyroid	GTEx
rs940045	QRICH1	cis	cerebellum	SCAN
rs940045	WDR6	cis	Esophagus Muscularis	GTEx
rs940045	AMT	cis	Whole Blood	GTEx
rs940045	WDR6	cis	Muscle Skeletal	GTEx
rs940045	NICN1-AS1	cis	Thyroid	GTEx
rs940045	WDR6	cis	cerebellum	SCAN
rs940045	LZTFL1	cis	cerebellum	SCAN
rs940045	SEMA3G	cis	cerebellum	SCAN
rs940045	AMT	cis	lung	GTEx
rs940045	NME6	cis	cerebellum	SCAN
rs940045	NCKIPSD	cis	Esophagus Muscularis	GTEx
rs940045	AMT	cis	Adipose Subcutaneous	GTEx
rs940045	NICN1	cis	cerebellum	SCAN
rs940045	AMT	cis	Artery Aorta	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49446000-49450200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:49446800-49450400	Active TSS	NHLF	lung
3	chr3:49447000-49450200	Active TSS	HSMMtube	muscle
4	chr3:49447000-49450400	Active TSS	Ovary	ovary
5	chr3:49447000-49450600	Active TSS	Aorta	Aorta
6	chr3:49447200-49449800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:49447200-49450400	Active TSS	Left Ventricle	heart
8	chr3:49447400-49449800	Active TSS	Fetal Muscle Trunk	muscle
9	chr3:49447400-49450200	Active TSS	Lung	lung
10	chr3:49447400-49450400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr3:49447600-49450200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:49447600-49450400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr3:49447600-49450400	Active TSS	Right Ventricle	heart
14	chr3:49447600-49450400	Active TSS	A549	lung
15	chr3:49447600-49450600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:49447800-49449800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:49447800-49450000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:49447800-49450000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:49447800-49450000	Active TSS	Fetal Thymus	thymus
20	chr3:49447800-49450200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:49447800-49450200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:49447800-49450200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr3:49447800-49450200	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr3:49447800-49450400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr3:49447800-49450400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:49447800-49450400	Active TSS	Fetal Kidney	kidney
27	chr3:49447800-49450400	Active TSS	Placenta Amnion	Placenta Amnion
28	chr3:49447800-49450400	Active TSS	GM12878-XiMat	blood
29	chr3:49447800-49450400	Active TSS	NHDF-Ad	bronchial
30	chr3:49448000-49449800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:49448000-49449800	Active TSS	Colonic Mucosa	Colon
32	chr3:49448000-49450000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr3:49448000-49450000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:49448000-49450000	Active TSS	Brain Germinal Matrix	brain
35	chr3:49448000-49450200	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr3:49448000-49450200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:49448000-49450200	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr3:49448000-49450200	Active TSS	Muscle Satellite Cultured Cells	--
39	chr3:49448000-49450200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:49448000-49450200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:49448000-49450200	Active TSS	Fetal Intestine Large	intestine
42	chr3:49448000-49450200	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr3:49448000-49450200	Active TSS	Placenta	Placenta
44	chr3:49448000-49450200	Active TSS	Thymus	Thymus
45	chr3:49448000-49450200	Active TSS	Hela-S3	cervix
46	chr3:49448000-49450400	Active TSS	Pancreas	Pancrea
47	chr3:49448000-49450400	Active TSS	Small Intestine	intestine
48	chr3:49448000-49450800	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr3:49448200-49449800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:49448200-49449800	Active TSS	Primary B cells from peripheral blood	blood

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