Variant report

Variant	rs2149085
Chromosome Location	chr6:167371110-167371111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr6:167370535-167371111	GM12878	blood:	n/a	n/a
2	YY1	chr6:167369513-167371558	HepG2	liver:	n/a	chr6:167370099-167370108 chr6:167369776-167369785 chr6:167371353-167371365 chr6:167369773-167369782
3	NFIC	chr6:167369930-167372152	HepG2	liver:	n/a	n/a
4	POLR2A	chr6:167369802-167372163	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:167369525-167371253	K562	blood:	n/a	n/a
6	RCOR1	chr6:167370966-167371140	K562	blood:	n/a	n/a
7	POLR2A	chr6:167371103-167371180	MCF-7	breast:	n/a	n/a
8	FOSL2	chr6:167369802-167371143	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:167370654-167371488	GM12892	blood:	n/a	n/a
10	NFIC	chr6:167369776-167372186	HepG2	liver:	n/a	n/a
11	ZMIZ1	chr6:167370631-167371384	K562	blood:	n/a	n/a
12	MYBL2	chr6:167369501-167372122	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:167368638-167371430	GM12892	blood:	n/a	n/a
14	CEBPB	chr6:167370843-167371513	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:167370611-167371488	GM12891	blood:	n/a	n/a
16	NFATC1	chr6:167370703-167371127	GM12878	blood:	n/a	n/a
17	CREB1	chr6:167369344-167371588	HepG2	liver:	n/a	n/a
18	BHLHE40	chr6:167370640-167371134	HepG2	liver:	n/a	n/a
19	RCOR1	chr6:167370050-167371444	HepG2	liver:	n/a	n/a
20	ELF1	chr6:167368614-167371195	GM12878	blood:	n/a	chr6:167369742-167369753 chr6:167369776-167369785 chr6:167369863-167369875 chr6:167370741-167370750 chr6:167368958-167368969 chr6:167370740-167370751 chr6:167370740-167370751 chr6:167369743-167369752 chr6:167369479-167369491
21	POLR2A	chr6:167370022-167371644	HepG2	liver:	n/a	n/a
22	RCOR1	chr6:167369611-167371386	K562	blood:	n/a	n/a
23	POLR2A	chr6:167368639-167371572	GM18505	blood:	n/a	n/a
24	MAX	chr6:167368501-167371864	HepG2	liver:	n/a	chr6:167369457-167369467
25	POLR2A	chr6:167369574-167371193	HepG2	liver:	n/a	n/a
26	BHLHE40	chr6:167369817-167371960	GM12878	blood:	n/a	chr6:167370180-167370196
27	POLR2A	chr6:167369386-167371259	K562	blood:	n/a	n/a
28	NRF1	chr6:167370901-167371243	GM12878	blood:	n/a	n/a
29	FOXM1	chr6:167370269-167371280	GM12878	blood:	n/a	n/a
30	HCFC1	chr6:167369754-167371159	K562	blood:	n/a	n/a
31	TAF1	chr6:167369486-167371168	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:167369496-167371190	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:167368732-167371266	NB4	blood:	n/a	n/a
34	STAT3	chr6:167370752-167371513	GM12878	blood:	n/a	n/a
35	POLR2A	chr6:167369786-167371207	GM10847	blood:	n/a	n/a
36	MAFK	chr6:167370934-167371410	K562	blood:	n/a	n/a
37	PML	chr6:167369626-167371501	GM12878	blood:	n/a	n/a
38	EGR1	chr6:167370641-167371149	K562	blood:	n/a	chr6:167370971-167370985 chr6:167370756-167370770 chr6:167370758-167370768
39	POLR2A	chr6:167371108-167371461	H1-hESC	embryonic stem cell:	n/a	n/a
40	SP1	chr6:167370645-167371127	GM12878	blood:	n/a	chr6:167370719-167370728 chr6:167370718-167370727
41	POLR2A	chr6:167370484-167371412	K562	blood:	n/a	n/a
42	TAF1	chr6:167369460-167371141	HepG2	liver:	n/a	n/a
43	CBX3	chr6:167370635-167371282	K562	blood:	n/a	n/a
44	EP300	chr6:167370594-167371279	K562	blood:	n/a	chr6:167370715-167370731 chr6:167370743-167370750
45	POLR2A	chr6:167369596-167371979	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr6:167370543-167371200	HepG2	liver:	n/a	n/a
47	MXI1	chr6:167369486-167371340	HepG2	liver:	n/a	n/a
48	YY1	chr6:167370982-167371496	H1-hESC	embryonic stem cell:	n/a	chr6:167371353-167371365
49	REST	chr6:167369757-167372069	HepG2	liver:	n/a	chr6:167370011-167370031 chr6:167370084-167370097 chr6:167370181-167370194 chr6:167370406-167370419
50	POLR2A	chr6:167369525-167372091	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:167370784..167372453-chr6:167373625..167375404,2	K562	blood:
2	chr6:167369620..167371640-chr6:167412068..167415220,3	K562	blood:
3	chr6:167364990..167367805-chr6:167369090..167372947,3	K562	blood:
4	chr6:167368436..167372370-chr6:167409956..167415121,7	MCF-7	breast:
5	chr6:167368335..167372073-chr6:167409735..167414257,6	K562	blood:
6	chr6:167368539..167373039-chr6:167409933..167412837,4	MCF-7	breast:
7	chr6:167370155..167372073-chr6:167409744..167411701,2	K562	blood:

Variant related genes	Relation type
ENSG00000249141	TF binding region
RNASET2	TF binding region
ENSG00000213066	Chromatin interaction
ENSG00000026297	Chromatin interaction
ENSG00000265828	Chromatin interaction
ENSG00000227598	Chromatin interaction
ENSG00000272980	Chromatin interaction

Extended variants
information (count: 146 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs1044059	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10946198	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10946199	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10946204	0.81[GIH][hapmap]
rs1187530	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1187532	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1211447	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13192426	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1590257	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1620933	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1743439	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1743440	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1743441	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1794693	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1794694	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1794696	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1794697	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1794699	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1794700	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1811120	0.85[EUR][1000 genomes]
rs1819333	0.92[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];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2013815	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2015864	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2149083	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2149084	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2149090	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2149091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2149093	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2237277	0.88[CHB][hapmap]
rs2282861	0.83[MEX][hapmap]
rs2345571	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2345573	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs239934	0.91[EUR][1000 genomes]
rs239935	0.96[CEU][hapmap];0.84[MEX][hapmap];0.81[MKK][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2757042	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2757044	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2757046	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2757050	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2757052	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2757054	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2769345	0.87[CEU][hapmap]
rs2769346	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2769347	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2769348	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2769349	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2769351	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2769352	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2769354	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2769355	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs364283	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs364451	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs365189	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs376097	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs376551	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs376574	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs377232	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs377753	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs385460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs385863	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs386548	0.92[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];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs387733	0.92[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];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs388406	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs389946	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs389956	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs393558	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs393727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs394522	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs397713	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs398278	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs400063	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs400176	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs400837	0.92[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];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs402191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs402749	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs404222	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs405553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs406095	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs407515	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs408040	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs408080	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs408087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs408918	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs409356	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs413232	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs414437	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs415842	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs415890	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs415987	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs416131	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs421214	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs422094	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs422562	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs422694	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs422780	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs424185	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs425039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs427824	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs428805	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs429083	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs430097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs430145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs430293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs430477	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs433191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs434093	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs436625	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs436707	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs439237	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs439553	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs442298	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs443570	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs444210	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs444988	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs447042	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs448060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs453184	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4710147	0.95[CEU][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4710160	0.83[EUR][1000 genomes]
rs4710161	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4997107	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5020533	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6904946	0.81[GIH][hapmap];0.81[TSI][hapmap]
rs6920364	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6939196	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7749278	0.83[MEX][hapmap]
rs86755	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9295385	0.81[GIH][hapmap];0.81[TSI][hapmap]
rs932644	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9348211	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9457247	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9457249	0.87[YRI][hapmap]
rs9457251	0.89[YRI][hapmap]
rs9457252	0.81[GIH][hapmap]
rs9459827	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9459835	0.83[YRI][hapmap]
rs9459836	0.81[GIH][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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 miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
10	nsv1034359	chr6:167359643-167384714	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Crohn's disease	23850713	GWAS catalog

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2149085	CCR6	cis	cerebellum	SCAN
rs2149085	CCR6	cis	parietal	SCAN
rs2149085	RNASET2	cis	Whole Blood	GTEx
rs2149085	RNASET2	cis	Skin Sun Exposed Lower leg	GTEx
rs2149085	RNASET2	cis	cerebellum	SCAN
rs2149085	RNASET2	cis	lymphoblastoid	seeQTL
rs2149085	AL133458.1	cis	Whole Blood	GTEx
rs2149085	RNASET2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167367200-167372000	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr6:167368600-167371200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:167368600-167371400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr6:167368600-167371400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:167368800-167371200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr6:167368800-167371200	Active TSS	HSMM	muscle
7	chr6:167369000-167371200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:167369000-167371400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr6:167369200-167371200	Active TSS	Left Ventricle	heart
10	chr6:167369200-167371200	Active TSS	Right Atrium	heart
11	chr6:167369400-167371200	Active TSS	Brain Angular Gyrus	brain
12	chr6:167369400-167371200	Active TSS	Brain Anterior Caudate	brain
13	chr6:167369800-167371200	Active TSS	HepG2	liver
14	chr6:167370200-167371200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:167370200-167371200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:167370200-167371200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr6:167370200-167371200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:167370200-167371200	Flanking Active TSS	Liver	Liver
19	chr6:167370200-167371200	Flanking Active TSS	Colonic Mucosa	Colon
20	chr6:167370200-167371200	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr6:167370200-167371200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr6:167370200-167371200	Flanking Active TSS	Dnd41	blood
23	chr6:167370200-167371400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr6:167370200-167371400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:167370200-167371400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr6:167370200-167371400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr6:167370200-167371400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr6:167370200-167371800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr6:167370200-167373800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr6:167370400-167371200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:167370400-167371200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:167370400-167371200	Enhancers	Fetal Heart	heart
33	chr6:167370400-167371200	Flanking Active TSS	Fetal Thymus	thymus
34	chr6:167370400-167371400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr6:167370400-167373400	Weak transcription	Fetal Kidney	kidney
36	chr6:167370600-167371200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr6:167370600-167371200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:167370600-167371200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:167370600-167371200	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr6:167370600-167371200	Bivalent Enhancer	Fetal Brain Male	brain
41	chr6:167370600-167371200	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr6:167370600-167371200	Flanking Active TSS	NHEK	skin
43	chr6:167370600-167371400	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr6:167370600-167371400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:167370600-167371400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr6:167370600-167371400	Enhancers	Gastric	stomach
47	chr6:167370600-167371600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:167370600-167371600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr6:167370600-167371800	Flanking Active TSS	GM12878-XiMat	blood
50	chr6:167370800-167371200	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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