Variant report

Variant	rs1853830
Chromosome Location	chr13:79981012-79981013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr13:79980194-79981211	K562	blood:	n/a	n/a
2	PML	chr13:79978947-79981124	GM12878	blood:	n/a	n/a
3	POLR2A	chr13:79979203-79981108	HL-60	blood:	n/a	n/a
4	POLR2A	chr13:79979198-79981065	GM18505	blood:	n/a	n/a
5	MXI1	chr13:79979853-79981293	GM12878	blood:	n/a	n/a
6	SMC3	chr13:79980289-79981020	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr13:79979102-79981045	GM12891	blood:	n/a	n/a
8	E2F6	chr13:79980144-79981024	H1-hESC	embryonic stem cell:	n/a	chr13:79980376-79980391
9	POLR2A	chr13:79979187-79981051	HepG2	liver:	n/a	n/a
10	POLR2A	chr13:79979195-79981340	GM12878	blood:	n/a	n/a
11	POLR2A	chr13:79979031-79981704	HepG2	liver:	n/a	n/a
12	MYC	chr13:79979202-79981041	K562	blood:	n/a	n/a
13	POLR2A	chr13:79979159-79981096	GM12878	blood:	n/a	n/a
14	TAF1	chr13:79979803-79981035	ECC-1	luminal epithelium:	n/a	n/a
15	TBP	chr13:79979213-79981049	HepG2	liver:	n/a	n/a
16	POLR2A	chr13:79979193-79981187	IMR90	lung:	n/a	n/a
17	POLR2A	chr13:79979039-79981111	GM12892	blood:	n/a	n/a
18	POLR2A	chr13:79979115-79981057	GM12891	blood:	n/a	n/a
19	POLR2A	chr13:79979533-79981093	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr13:79976521-79982167	GM12891	blood:	n/a	n/a
21	POLR2A	chr13:79979334-79981055	NB4	blood:	n/a	n/a
22	HCFC1	chr13:79979137-79981082	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr13:79979180-79981075	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr13:79979623-79981036	K562	blood:	n/a	n/a
25	MYC	chr13:79979212-79981015	NB4	blood:	n/a	n/a
26	IRF1	chr13:79980170-79981151	K562	blood:	n/a	n/a
27	MTA3	chr13:79979088-79981036	GM12878	blood:	n/a	n/a
28	POLR2A	chr13:79979343-79981112	K562	blood:	n/a	n/a
29	MYC	chr13:79979099-79981606	MCF10A-Er-Src	breast:	n/a	n/a
30	BCLAF1	chr13:79980153-79981014	GM12878	blood:	n/a	n/a
31	CUX1	chr13:79980274-79981197	GM12878	blood:	n/a	n/a
32	POLR2A	chr13:79979425-79981742	PBDE	blood:	n/a	n/a
33	POLR2A	chr13:79979168-79982244	MCF10A-Er-Src	breast:	n/a	n/a
34	TBP	chr13:79980144-79981023	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr13:79980150-79981314	HepG2	liver:	n/a	n/a
36	TBP	chr13:79979138-79981078	K562	blood:	n/a	n/a
37	ZMIZ1	chr13:79980132-79981310	K562	blood:	n/a	n/a
38	POLR2A	chr13:79979577-79981067	K562	blood:	n/a	n/a
39	POLR2A	chr13:79979095-79981064	GM19099	blood:	n/a	n/a
40	POLR2A	chr13:79979178-79981203	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr13:79979516-79981367	PFSK-1	brain:	n/a	n/a
42	FOXM1	chr13:79979777-79981116	GM12878	blood:	n/a	n/a
43	POLR2A	chr13:79979538-79981029	U87	brain:	n/a	n/a
44	POLR2A	chr13:79978483-79982627	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr13:79979033-79981086	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr13:79979731-79981052	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr13:79979203-79981587	NB4	blood:	n/a	n/a
48	POLR2A	chr13:79979224-79981556	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr13:79979138-79981564	Hela-S3	cervix:	n/a	n/a
50	REST	chr13:79979109-79981086	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:79980450..79981962-chr13:80054323..80056011,2	K562	blood:
2	chr13:79980707..79982787-chr13:79986192..79988065,2	MCF-7	breast:
3	chr13:79979196..79982246-chr13:80054691..80057070,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDFIP2-2	chr13:79980499-79981230	ENSG00000227354.2

No data

Variant related genes	Relation type
RBM26	TF binding region
ENSG00000232132	Chromatin interaction
ENSG00000102471	Chromatin interaction

Extended variants
information (count: 186 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:183)

rs_ID	r²[population]
rs1022891	0.82[JPT][hapmap];0.81[MEX][hapmap]
rs11620233	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1212082	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs12865187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12871015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap]
rs12877507	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1324868	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.85[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1335368	0.88[JPT][hapmap]
rs1335370	0.88[JPT][hapmap]
rs1408049	0.84[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap]
rs1408656	0.87[TSI][hapmap]
rs1408658	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1409018	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1410336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1475797	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1577416	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs1577418	0.88[JPT][hapmap]
rs1590465	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1616547	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1619669	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1624537	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1627031	0.88[AFR][1000 genomes]
rs1748761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1748762	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1748763	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1748768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs1748769	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1749982	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1752648	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1752649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1886494	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1980764	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2025913	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2031815	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2057573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs2095477	0.94[ASN][1000 genomes]
rs2147568	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2182009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2182010	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap]
rs2182873	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2265377	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2265378	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2265381	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2265382	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2274554	0.83[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.84[YRI][hapmap]
rs2274555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap]
rs2296287	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2477395	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2477397	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2484345	0.97[ASN][1000 genomes]
rs2760102	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2760105	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2760106	0.84[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap]
rs2763809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2763810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2765078	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2783119	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2783121	0.88[JPT][hapmap]
rs2783122	0.84[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap]
rs2876740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs314689	0.89[ASN][1000 genomes]
rs314690	0.90[ASN][1000 genomes]
rs314692	0.97[ASN][1000 genomes]
rs314693	0.97[ASN][1000 genomes]
rs314694	0.97[ASN][1000 genomes]
rs314695	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3187338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap]
rs35476664	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742117	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap]
rs3742118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3742119	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs3742120	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742122	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3752994	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3764150	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3818563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs3903388	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs4146473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs416660	0.97[ASN][1000 genomes]
rs418150	0.97[ASN][1000 genomes]
rs4605023	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4885636	0.88[JPT][hapmap]
rs57821487	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs586219	0.97[ASN][1000 genomes]
rs643778	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6563098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs6563100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6563104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6563113	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7317343	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7317416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7319252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap]
rs7319320	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7321186	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7322167	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7322673	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7322901	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7323246	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7327386	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7327603	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap]
rs7328494	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7329331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7330479	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7331525	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7331766	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7331867	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7331872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7332367	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs7332913	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs7336186	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7336581	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7336939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7336979	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7338530	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs7338678	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7339303	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs7981067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs7981500	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7986306	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7987193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7987769	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7988784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap]
rs7990321	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7990344	0.86[JPT][hapmap]
rs7996652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7998837	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap]
rs8001281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8001308	0.90[ASN][1000 genomes]
rs8001392	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8001622	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8001795	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8002042	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs8002838	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs912639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9318621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9318623	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap]
rs9318625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9318626	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs9318627	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs9318634	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap]
rs9318638	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9318640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9318641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9530899	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs9530901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs9530913	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9530914	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9530915	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9530917	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9530920	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545065	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9545066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs9545067	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs9545076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap]
rs9545083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9545085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9545086	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9545087	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9545097	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9545101	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9545104	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545106	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9545108	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545109	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9545113	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9545114	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9565486	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap]
rs9565489	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9565496	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9565497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9565500	0.95[ASN][1000 genomes]
rs9565510	0.87[JPT][hapmap]
rs9574409	0.82[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap]
rs9574416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9574418	0.94[ASN][1000 genomes]
rs9574419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9574420	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9574422	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9574434	0.88[JPT][hapmap]
rs9593396	1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs9601226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9601227	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs987284	0.84[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	esv3336073	chr13:79979151-79981199	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1853830	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79976200-79981600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:79976600-79981600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:79977000-79981400	Active TSS	GM12878-XiMat	blood
4	chr13:79977400-79981400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr13:79977800-79981200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr13:79977800-79981200	Active TSS	Fetal Intestine Small	intestine
7	chr13:79978000-79981400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr13:79978000-79981600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:79978000-79981600	Active TSS	Colonic Mucosa	Colon
10	chr13:79978200-79981600	Active TSS	A549	lung
11	chr13:79978400-79981200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:79978400-79981200	Active TSS	Right Ventricle	heart
13	chr13:79978400-79981600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:79978400-79981600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:79978600-79981200	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr13:79978600-79981200	Active TSS	Fetal Muscle Trunk	muscle
17	chr13:79978600-79981400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr13:79978600-79981400	Active TSS	NHLF	lung
19	chr13:79978800-79981200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr13:79978800-79981200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr13:79978800-79981200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:79978800-79981200	Active TSS	Brain Germinal Matrix	brain
23	chr13:79978800-79981200	Active TSS	Fetal Muscle Leg	muscle
24	chr13:79978800-79981400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:79978800-79981400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr13:79978800-79981400	Active TSS	Psoas Muscle	Psoas
27	chr13:79978800-79981800	Active TSS	K562	blood
28	chr13:79979000-79981200	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr13:79979000-79981200	Active TSS	HMEC	breast
30	chr13:79979000-79981200	Active TSS	NHEK	skin
31	chr13:79979000-79981400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:79979000-79981400	Active TSS	Brain Angular Gyrus	brain
33	chr13:79979000-79981600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr13:79979200-79981200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:79979200-79981200	Active TSS	Dnd41	blood
36	chr13:79979400-79981200	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr13:79979400-79981200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr13:79979400-79981200	Active TSS	Brain Substantia Nigra	brain
39	chr13:79979400-79981200	Active TSS	Duodenum Mucosa	Duodenum
40	chr13:79979400-79981200	Active TSS	Fetal Stomach	stomach
41	chr13:79979400-79981200	Active TSS	Rectal Smooth Muscle	rectum
42	chr13:79979400-79981400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:79979400-79981400	Active TSS	Fetal Thymus	thymus
44	chr13:79979600-79981200	Active TSS	Placenta	Placenta
45	chr13:79979600-79981200	Bivalent/Poised TSS	HepG2	liver
46	chr13:79980000-79981200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:79980400-79981200	Active TSS	Fetal Lung	lung
48	chr13:79980600-79981200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr13:79980600-79981200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr13:79980600-79981200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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Variant report

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