Variant report

Variant	rs1084086
Chromosome Location	chr1:46041100-46041101
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46014904..46020261-chr1:46034308..46041374,10	K562	blood:
2	chr1:45972767..45974304-chr1:46039504..46041198,2	K562	blood:
3	chr1:45284036..45286451-chr1:46040031..46042437,2	K562	blood:
4	chr1:45985335..45987528-chr1:46038480..46041554,5	K562	blood:
5	chr1:45965940..45967492-chr1:46038830..46041668,2	K562	blood:
6	chr1:46035047..46037595-chr1:46039672..46041229,2	MCF-7	breast:
7	chr1:46035605..46037234-chr1:46040002..46041570,2	K562	blood:
8	chr1:46039552..46042482-chr1:46044610..46047405,2	K562	blood:
9	chr1:45965074..45967492-chr1:46039494..46041668,2	K562	blood:
10	chr1:46041016..46043943-chr1:46047684..46049396,2	MCF-7	breast:
11	chr1:46037943..46043170-chr1:46048057..46052696,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236624	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000117448	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10430105	0.86[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs10430123	0.86[ASW][hapmap];0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap]
rs10430124	0.86[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs10749856	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap]
rs10789467	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs10789470	0.86[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs10789471	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap]
rs10890333	0.86[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs10890334	0.95[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs10890335	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs10890336	0.91[CEU][hapmap];0.94[YRI][hapmap]
rs10890341	0.95[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs10890346	0.92[CEU][hapmap];0.90[CHD][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap]
rs11211142	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11211145	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs11211146	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs11211147	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs11211149	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11211152	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs11211157	0.86[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs11211160	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs11211161	0.95[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs11211163	0.86[ASW][hapmap];0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs11211166	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs11211168	0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap]
rs11211169	0.86[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs11211171	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs11211173	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap]
rs11211177	0.96[CEU][hapmap];0.86[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap]
rs11211178	0.92[CEU][hapmap]
rs11211181	0.92[CEU][hapmap];0.85[CHD][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap]
rs1135812	0.96[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs1135850	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12023439	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs12024590	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs12037459	0.94[CHB][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12043945	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs12045451	0.81[AMR][1000 genomes]
rs12049027	0.91[CEU][hapmap]
rs12091503	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs1250	0.86[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.81[AMR][1000 genomes]
rs1541131	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1547924	0.86[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1547925	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1972410	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2050376	0.86[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2152078	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2230658	0.86[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2230659	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap]
rs2253862	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2275085	0.86[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2275086	0.80[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28370457	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs28375469	0.86[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap]
rs28550303	0.86[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap]
rs28647556	0.90[CHD][hapmap]
rs28719889	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap]
rs28817701	0.90[CHD][hapmap];0.81[GIH][hapmap];0.85[LWK][hapmap];0.94[MKK][hapmap];0.87[TSI][hapmap]
rs28890893	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap]
rs2934857	0.90[CHD][hapmap]
rs2934859	0.92[CHD][hapmap]
rs2991972	0.92[CHD][hapmap]
rs2991976	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2991977	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2991978	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2991979	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2991981	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2991983	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2991986	0.86[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2991987	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2991988	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2991989	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2993263	0.92[CHD][hapmap]
rs3013595	0.88[CHD][hapmap]
rs3013597	0.81[CHB][hapmap]
rs3014210	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3014212	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3014213	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3014216	0.90[CHD][hapmap]
rs3014218	0.90[CHD][hapmap]
rs3014235	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3014236	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3014237	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs3014238	0.90[CHD][hapmap]
rs3014239	0.86[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3014240	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3014241	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs3014242	0.86[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs3014245	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3014246	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3014249	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3014251	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3790585	0.91[CHB][hapmap];0.87[JPT][hapmap];0.80[YRI][hapmap];0.86[ASN][1000 genomes]
rs3811436	0.86[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs4274104	0.90[CHD][hapmap]
rs4431884	0.92[CEU][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap]
rs4439382	0.86[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs4559551	0.86[ASW][hapmap];0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs4564187	0.92[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap]
rs4607935	0.95[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs4609469	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs4660312	0.92[CHD][hapmap]
rs4660313	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs4660880	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap]
rs4660882	0.82[CHB][hapmap];0.90[CHD][hapmap]
rs4660883	0.92[CEU][hapmap];0.88[CHD][hapmap];0.88[MEX][hapmap];0.93[MKK][hapmap];0.94[TSI][hapmap]
rs499600	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[ASN][1000 genomes]
rs5021934	0.90[CHD][hapmap]
rs512083	0.84[ASN][1000 genomes]
rs514595	1.00[ASN][1000 genomes]
rs518216	0.86[CHB][hapmap];0.92[CHD][hapmap];0.89[MKK][hapmap]
rs518365	0.85[CHD][hapmap]
rs563799	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs622798	0.92[CHD][hapmap]
rs6429576	0.90[CHD][hapmap]
rs6658700	0.86[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs666720	0.81[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs6694889	0.87[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap]
rs6697821	0.86[ASW][hapmap];0.92[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap]
rs6703748	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs7545118	0.82[AMR][1000 genomes]
rs7547414	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9429172	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
4	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
6	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
7	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
8	esv3342998	chr1:46035908-46066462	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs1084086	GPBP1L1	cis	Muscle Skeletal	GTEx
rs1084086	GPBP1L1	cis	uninvolved skin	skin_eQTL
rs1084086	IPP	cis	multi-tissue	Pritchard
rs1084086	IPP	cis	Lymphoblastoid	GTEx
rs1084086	GPBP1L1	cis	normal skin	skin_eQTL
rs1084086	GPBP1L1	cis	Lymphoblastoid	GTEx
rs1084086	CCDC17	cis	multi-tissue	Pritchard
rs1084086	NSUN4	cis	cerebellum	SCAN
rs1084086	GPBP1L1	cis	cerebellum	SCAN
rs1084086	Hs.396207	cis	multi-tissue	Pritchard
rs1084086	GPBP1L1	cis	lesional skin	skin_eQTL
rs1084086	CYP4Z2P	cis	cerebellum	SCAN
rs1084086	RAD54L	cis	parietal	SCAN
rs1084086	NEIL3	trans	cerebellum	SCAN
rs1084086	IPP	cis	brain	seeQTL
rs1084086	IPP	trans	brain	seeQTL
rs1084086	SEPP1	trans	lymphoblastoid	seeQTL
rs1084086	IPP	cis	lymphoblastoid	seeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46032600-46049000	Weak transcription	Right Atrium	heart
2	chr1:46033000-46048800	Weak transcription	Fetal Brain Male	brain
3	chr1:46034200-46048800	Weak transcription	Stomach Mucosa	stomach
4	chr1:46035000-46042600	Weak transcription	HMEC	breast
5	chr1:46035400-46048800	Weak transcription	Brain Substantia Nigra	brain
6	chr1:46035600-46048000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:46035600-46048800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:46035800-46041800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:46035800-46048800	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:46035800-46048800	Weak transcription	Hela-S3	cervix
11	chr1:46036200-46047600	Weak transcription	Primary B cells from cord blood	blood
12	chr1:46036200-46048800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:46036400-46041600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:46036400-46048000	Weak transcription	Spleen	Spleen
15	chr1:46036400-46048600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:46036400-46048800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:46036400-46048800	Weak transcription	Brain Germinal Matrix	brain
18	chr1:46036400-46049200	Weak transcription	Gastric	stomach
19	chr1:46036600-46047400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:46036600-46048200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:46036600-46048600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:46036600-46048600	Weak transcription	Lung	lung
23	chr1:46036600-46048800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:46036600-46048800	Weak transcription	Brain Anterior Caudate	brain
25	chr1:46036600-46048800	Weak transcription	Fetal Kidney	kidney
26	chr1:46036600-46048800	Weak transcription	Fetal Lung	lung
27	chr1:46036600-46048800	Weak transcription	Dnd41	blood
28	chr1:46036600-46048800	Weak transcription	HepG2	liver
29	chr1:46036800-46041600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:46036800-46042000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:46036800-46047600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:46036800-46047600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:46036800-46047600	Weak transcription	GM12878-XiMat	blood
34	chr1:46036800-46048000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:46036800-46048000	Weak transcription	Fetal Thymus	thymus
36	chr1:46036800-46048800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:46036800-46048800	Weak transcription	Adipose Nuclei	Adipose
38	chr1:46036800-46048800	Weak transcription	Liver	Liver
39	chr1:46036800-46048800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:46036800-46048800	Weak transcription	Fetal Brain Female	brain
41	chr1:46036800-46048800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:46036800-46048800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:46036800-46048800	Weak transcription	Thymus	Thymus
44	chr1:46036800-46048800	Weak transcription	A549	lung
45	chr1:46036800-46048800	Weak transcription	NH-A	brain
46	chr1:46036800-46048800	Weak transcription	Osteobl	bone
47	chr1:46036800-46049000	Weak transcription	Primary T cells from cord blood	blood
48	chr1:46036800-46049200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:46037000-46048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:46037200-46041400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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