Variant report

Variant	rs10427083
Chromosome Location	chr19:18550276-18550277
allele	A/C
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	POLR2A	chr19:18549586-18550393	GM12892	blood:	n/a	n/a
2	POLR2A	chr19:18538551-18551124	K562	blood:	n/a	n/a
3	POLR2A	chr19:18534926-18553479	K562	blood:	n/a	n/a
4	POLR2A	chr19:18550171-18550624	U87	brain:	n/a	n/a
5	POLR2A	chr19:18550241-18551624	K562	blood:	n/a	n/a
6	POLR2A	chr19:18547157-18552159	K562	blood:	n/a	n/a
7	POLR2A	chr19:18543626-18552057	K562	blood:	n/a	n/a
8	POLR2A	chr19:18549993-18550356	GM12891	blood:	n/a	n/a
9	POLR2A	chr19:18550060-18550941	GM12892	blood:	n/a	n/a
10	MTA3	chr19:18548344-18550400	GM12878	blood:	n/a	n/a
11	PBX3	chr19:18550077-18550302	GM12878	blood:	n/a	n/a
12	ZBTB7A	chr19:18548629-18550323	K562	blood:	n/a	chr19:18548801-18548809
13	FOSL2	chr19:18549286-18553091	HepG2	liver:	n/a	n/a
14	POU2F2	chr19:18550016-18550313	GM12878	blood:	n/a	chr19:18550198-18550212 chr19:18550201-18550211 chr19:18550202-18550209 chr19:18550196-18550214 chr19:18550200-18550212 chr19:18550198-18550213 chr19:18550200-18550210 chr19:18550201-18550210 chr19:18550201-18550209 chr19:18550201-18550211 chr19:18550199-18550210 chr19:18550194-18550215
15	POLR2A	chr19:18548452-18550730	HepG2	liver:	n/a	n/a
16	JUND	chr19:18550158-18550339	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZBTB7A	chr19:18547680-18550716	K562	blood:	n/a	chr19:18548801-18548809
18	TCF7L2	chr19:18550255-18550841	Hela-S3	cervix:	n/a	n/a
19	STAT5A	chr19:18548892-18553469	GM12878	blood:	n/a	chr19:18548988-18549000 chr19:18552557-18552569 chr19:18548983-18548995 chr19:18549005-18549017
20	POLR2A	chr19:18549908-18550484	GM12878	blood:	n/a	n/a
21	POU2F2	chr19:18549996-18550384	GM12891	blood:	n/a	chr19:18550198-18550212 chr19:18550201-18550211 chr19:18550202-18550209 chr19:18550196-18550214 chr19:18550200-18550212 chr19:18550198-18550213 chr19:18550200-18550210 chr19:18550201-18550210 chr19:18550201-18550209 chr19:18550201-18550211 chr19:18550199-18550210 chr19:18550194-18550215
22	POU2F2	chr19:18549875-18550409	GM12891	blood:	n/a	chr19:18550198-18550212 chr19:18550201-18550211 chr19:18550202-18550209 chr19:18550196-18550214 chr19:18550200-18550212 chr19:18550198-18550213 chr19:18550200-18550210 chr19:18550201-18550210 chr19:18550201-18550209 chr19:18550201-18550211 chr19:18550199-18550210 chr19:18550194-18550215
23	POLR2A	chr19:18550127-18550907	GM12891	blood:	n/a	n/a
24	NR2F2	chr19:18548992-18550704	K562	blood:	n/a	n/a
25	STAT5A	chr19:18549114-18553539	K562	blood:	n/a	chr19:18552557-18552569
26	NFYB	chr19:18550104-18550297	GM12878	blood:	n/a	n/a
27	POLR2A	chr19:18548384-18550392	HepG2	liver:	n/a	n/a
28	CUX1	chr19:18549735-18550495	K562	blood:	n/a	n/a
29	POLR2A	chr19:18548338-18550966	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr19:18550139-18550699	U87	brain:	n/a	n/a
31	POU2F2	chr19:18549897-18550466	GM12878	blood:	n/a	chr19:18550198-18550212 chr19:18550201-18550211 chr19:18550202-18550209 chr19:18550196-18550214 chr19:18550200-18550212 chr19:18550198-18550213 chr19:18550200-18550210 chr19:18550201-18550210 chr19:18550201-18550209 chr19:18550201-18550211 chr19:18550199-18550210 chr19:18550194-18550215
32	TEAD4	chr19:18550222-18550791	HepG2	liver:	n/a	n/a
33	TBL1XR1	chr19:18550001-18550277	K562	blood:	n/a	n/a
34	MAZ	chr19:18547349-18550869	IMR90	lung:	n/a	chr19:18549025-18549035 chr19:18548349-18548359 chr19:18548398-18548408

No.	Distal block	Cell Line	Cell type
1	chr19:18548448..18551673-chr19:18681148..18684161,3	K562	blood:
2	chr19:18531228..18534737-chr19:18549514..18551818,3	MCF-7	breast:
3	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
4	chr19:18549229..18551891-chr19:18947314..18949690,2	K562	blood:
5	chr19:18388462..18393408-chr19:18545945..18551144,14	K562	blood:
6	chr19:18549183..18551304-chr19:18943433..18945285,2	MCF-7	breast:
7	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
8	chr19:18548890..18552469-chr19:18555256..18558580,5	MCF-7	breast:

Variant related genes	Relation type
ISYNA1	TF binding region
ENSG00000268199	TF binding region
ENSG00000005007	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000221983	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10164319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10164323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs10403249	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10405479	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10405636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10408290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409003	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409483	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10409505	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10411009	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10413237	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10419404	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10420384	0.81[JPT][hapmap]
rs10425982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1043327	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10442	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668719	0.81[CHD][hapmap]
rs11673604	1.00[CEU][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.88[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12162221	0.85[ASN][1000 genomes]
rs12162223	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12981981	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1560118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1560119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs172032	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1806980	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2007981	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278238	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2288428	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303695	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2303696	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2303697	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2385089	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs271621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs271622	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs271623	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs271624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs271626	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs271628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs271629	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28375303	0.86[ASN][1000 genomes]
rs28572537	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34010330	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34053595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34171762	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34256197	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34509804	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34746918	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810429	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4595905	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4808133	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808134	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808136	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808804	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62121135	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7249020	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7251653	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7252707	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7252848	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7253990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7254249	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7256534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7257932	0.96[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.93[ASN][1000 genomes]
rs7258465	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs76194	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs76195	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8100767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8103622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103660	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8105994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8106096	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107347	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8107351	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8107367	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8107743	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8109573	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8111708	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs875396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
3	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
7	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
9	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
11	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
12	nsv911279	chr19:18533642-18550276	Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
13	nsv911280	chr19:18533642-18552139	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs10427083	SSBP4	cis	cerebellum	SCAN
rs10427083	GATAD2A	cis	parietal	SCAN
rs10427083	ISYNA1	cis	parietal	SCAN
rs10427083	ZNF431	cis	parietal	SCAN
rs10427083	PGLYRP2	cis	cerebellum	SCAN
rs10427083	SSBP4	cis	lymphoblastoid	seeQTL
rs10427083	SSBP4	cis	Skin Sun Exposed Lower leg	GTEx
rs10427083	SSBP4	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18545200-18570000	Weak transcription	Small Intestine	intestine
2	chr19:18548600-18550600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:18548600-18554200	Weak transcription	Dnd41	blood
4	chr19:18548800-18550400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr19:18548800-18550600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:18548800-18550800	Enhancers	NHLF	lung
7	chr19:18548800-18552800	Weak transcription	Primary T cells from cord blood	blood
8	chr19:18548800-18552800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:18548800-18552800	Weak transcription	HSMMtube	muscle
10	chr19:18548800-18553200	Weak transcription	Fetal Kidney	kidney
11	chr19:18548800-18554200	Weak transcription	NHDF-Ad	bronchial
12	chr19:18549000-18550600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:18549000-18550600	Enhancers	Fetal Heart	heart
14	chr19:18549000-18550800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:18549000-18550800	Flanking Active TSS	HepG2	liver
16	chr19:18549000-18551600	Enhancers	Spleen	Spleen
17	chr19:18549000-18552600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:18549000-18552600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr19:18549200-18550400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr19:18549200-18550400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr19:18549200-18550600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:18549200-18550600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:18549200-18550800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:18549200-18550800	Flanking Active TSS	K562	blood
25	chr19:18549200-18550800	Enhancers	NH-A	brain
26	chr19:18549200-18551400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:18549200-18552200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:18549200-18554200	Enhancers	Placenta	Placenta
29	chr19:18549200-18554400	Weak transcription	Primary B cells from cord blood	blood
30	chr19:18549200-18559600	Weak transcription	HSMM	muscle
31	chr19:18549200-18566200	Weak transcription	HUVEC	blood vessel
32	chr19:18549400-18550400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr19:18549400-18550400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr19:18549400-18550400	Enhancers	Fetal Lung	lung
35	chr19:18549400-18550600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr19:18549400-18550600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr19:18549400-18550800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:18549400-18550800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr19:18549400-18550800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr19:18549400-18550800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:18549400-18550800	Enhancers	Liver	Liver
42	chr19:18549400-18550800	Enhancers	Fetal Stomach	stomach
43	chr19:18549400-18551400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:18549400-18551400	Enhancers	Fetal Thymus	thymus
45	chr19:18549400-18551600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:18549400-18552000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:18549400-18552000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr19:18549400-18552400	Enhancers	A549	lung
49	chr19:18549400-18552600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:18549400-18552800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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