Variant report

Variant	rs7520930
Chromosome Location	chr1:150037560-150037561
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	MEF2A	chr1:150037543-150037868	K562	blood:	n/a	chr1:150037694-150037709 chr1:150037697-150037706 chr1:150037570-150037586 chr1:150037692-150037713 chr1:150037573-150037584 chr1:150037551-150037568 chr1:150037692-150037713 chr1:150037652-150037660 chr1:150037696-150037707 chr1:150037694-150037708 chr1:150037693-150037708 chr1:150037553-150037569 chr1:150037692-150037713 chr1:150037695-150037706 chr1:150037693-150037709 chr1:150037554-150037569
2	POLR2A	chr1:150037518-150037845	SK-N-SH	brain:	n/a	n/a
3	JUND	chr1:150037329-150037920	SK-N-SH	brain:	n/a	chr1:150037651-150037660 chr1:150037652-150037661 chr1:150037650-150037662 chr1:150037650-150037661
4	MYC	chr1:150037378-150037729	MCF10A-Er-Src	breast:	n/a	chr1:150037651-150037660
5	FOS	chr1:150037435-150037819	HUVEC	blood vessel:	n/a	chr1:150037651-150037660 chr1:150037652-150037661 chr1:150037650-150037662 chr1:150037650-150037661
6	RCOR1	chr1:150037229-150037830	K562	blood:	n/a	n/a
7	EP300	chr1:150037545-150037817	SK-N-SH_RA	brain:	n/a	chr1:150037651-150037660 chr1:150037689-150037703
8	EP300	chr1:150037507-150037750	K562	blood:	n/a	chr1:150037651-150037660 chr1:150037689-150037703
9	JUND	chr1:150037454-150037831	K562	blood:	n/a	chr1:150037651-150037660 chr1:150037652-150037661 chr1:150037650-150037662 chr1:150037650-150037661
10	FOS	chr1:150037476-150037844	MCF10A-Er-Src	breast:	n/a	chr1:150037651-150037660 chr1:150037652-150037661 chr1:150037650-150037662 chr1:150037650-150037661
11	JUND	chr1:150037512-150037822	Hela-S3	cervix:	n/a	chr1:150037651-150037660 chr1:150037652-150037661 chr1:150037650-150037662 chr1:150037650-150037661
12	ARID3A	chr1:150037493-150037942	K562	blood:	n/a	n/a
13	JUN	chr1:150037046-150038074	K562	blood:	n/a	chr1:150037651-150037660 chr1:150037652-150037661 chr1:150037650-150037662
14	FOSL2	chr1:150037476-150037888	SK-N-SH	brain:	n/a	chr1:150037651-150037660 chr1:150037652-150037661 chr1:150037650-150037662
15	PBX3	chr1:150037441-150038042	SK-N-SH	brain:	n/a	n/a
16	MEF2A	chr1:150037326-150038059	SK-N-SH	brain:	n/a	chr1:150037694-150037709 chr1:150037697-150037706 chr1:150037570-150037586 chr1:150037692-150037713 chr1:150037573-150037584 chr1:150037551-150037568 chr1:150037692-150037713 chr1:150037652-150037660 chr1:150037696-150037707 chr1:150037694-150037708 chr1:150037693-150037708 chr1:150037553-150037569 chr1:150037692-150037713 chr1:150037695-150037706 chr1:150037693-150037709 chr1:150037554-150037569
17	GATA3	chr1:150037400-150038038	SK-N-SH	brain:	n/a	chr1:150037912-150037933
18	FOS	chr1:150037355-150037837	MCF10A-Er-Src	breast:	n/a	chr1:150037651-150037660 chr1:150037652-150037661 chr1:150037650-150037662 chr1:150037650-150037661
19	MEF2A	chr1:150037363-150038064	SK-N-SH	brain:	n/a	chr1:150037694-150037709 chr1:150037697-150037706 chr1:150037570-150037586 chr1:150037692-150037713 chr1:150037573-150037584 chr1:150037551-150037568 chr1:150037692-150037713 chr1:150037652-150037660 chr1:150037696-150037707 chr1:150037694-150037708 chr1:150037693-150037708 chr1:150037553-150037569 chr1:150037692-150037713 chr1:150037695-150037706 chr1:150037693-150037709 chr1:150037554-150037569
20	MYC	chr1:150037335-150037684	MCF10A-Er-Src	breast:	n/a	chr1:150037651-150037660
21	FOS	chr1:150037480-150037817	MCF10A-Er-Src	breast:	n/a	chr1:150037651-150037660 chr1:150037652-150037661 chr1:150037650-150037662 chr1:150037650-150037661
22	SPI1	chr1:150037193-150037633	HL-60	blood:	n/a	chr1:150037390-150037399 chr1:150037389-150037402
23	FOS	chr1:150037466-150037843	MCF10A-Er-Src	breast:	n/a	chr1:150037651-150037660 chr1:150037652-150037661 chr1:150037650-150037662 chr1:150037650-150037661
24	GATA3	chr1:150037289-150038063	SK-N-SH	brain:	n/a	chr1:150037392-150037403 chr1:150037912-150037933
25	MEF2A	chr1:150037387-150037871	K562	blood:	n/a	chr1:150037694-150037709 chr1:150037697-150037706 chr1:150037570-150037586 chr1:150037692-150037713 chr1:150037573-150037584 chr1:150037551-150037568 chr1:150037692-150037713 chr1:150037652-150037660 chr1:150037696-150037707 chr1:150037694-150037708 chr1:150037693-150037708 chr1:150037553-150037569 chr1:150037692-150037713 chr1:150037695-150037706 chr1:150037693-150037709 chr1:150037554-150037569

No.	Distal block	Cell Line	Cell type
1	chr1:150035483..150047454-chr1:150129931..150138567,28	MCF-7	breast:
2	chr1:149908339..149915829-chr1:150035449..150039990,12	MCF-7	breast:
3	chr1:149897261..149900212-chr1:150037388..150039333,2	MCF-7	breast:
4	chr1:150029169..150032073-chr1:150037083..150039053,2	K562	blood:
5	chr1:149900572..149902334-chr1:150036988..150039201,2	K562	blood:
6	chr1:149980215..149982750-chr1:150036474..150039068,2	K562	blood:
7	chr1:150027925..150032582-chr1:150032961..150038144,5	K562	blood:
8	chr1:149907171..149915966-chr1:150036158..150043011,15	MCF-7	breast:
9	chr1:149906318..149907999-chr1:150037481..150039064,2	MCF-7	breast:
10	chr1:149900549..149903702-chr1:150037332..150040713,4	MCF-7	breast:
11	chr1:149855827..149861924-chr1:150032527..150042362,32	MCF-7	breast:
12	chr1:149817827..149821431-chr1:150036446..150041414,4	K562	blood:
13	chr1:150036699..150038403-chr1:150126898..150129215,2	MCF-7	breast:
14	chr1:149854948..149862391-chr1:150036900..150043965,32	MCF-7	breast:
15	chr1:149855739..149860992-chr1:150036779..150042618,12	K562	blood:
16	chr1:150036033..150038472-chr1:150149719..150151495,2	K562	blood:
17	chr1:149977821..149984701-chr1:150037094..150041280,13	MCF-7	breast:
18	chr1:150036735..150038527-chr1:150146288..150147861,2	K562	blood:
19	chr1:150036486..150039055-chr1:150205387..150207160,2	K562	blood:
20	chr1:149818728..149822581-chr1:150037464..150041088,4	MCF-7	breast:
21	chr1:149855739..149863622-chr1:150034266..150042059,13	K562	blood:
22	chr1:149980215..149984264-chr1:150036474..150041542,10	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTUD7B-2	chr1:150035352-150039341	NONHSAT006267

Variant related genes	Relation type
VPS45	TF binding region
ENSG00000184270	Chromatin interaction
ENSG00000023902	Chromatin interaction
ENSG00000203819	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000143368	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000184678	Chromatin interaction

Extended variants
information (count: 239 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:237)

rs_ID	r²[population]
rs10494261	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10494264	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10494363	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10749674	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888568	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888569	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10888572	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1105209	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205307	1.00[ASN][1000 genomes]
rs11205308	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11205316	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11205317	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205319	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205329	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11205331	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205333	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205337	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11548267	1.00[ASN][1000 genomes]
rs11576997	1.00[ASN][1000 genomes]
rs11577346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580307	1.00[ASN][1000 genomes]
rs11583720	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584354	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584606	1.00[ASN][1000 genomes]
rs11584761	1.00[ASN][1000 genomes]
rs11585955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587963	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588837	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11589585	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589801	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589922	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11591200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12058090	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12058502	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060027	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060211	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060830	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12061167	0.93[EUR][1000 genomes]
rs12061196	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061565	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062861	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063059	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063281	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12064532	0.89[EUR][1000 genomes]
rs12065681	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066293	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067422	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073359	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074281	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077623	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12078573	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12081082	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12086155	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12087578	1.00[ASN][1000 genomes]
rs12093499	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12098106	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124898	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138231	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138787	1.00[ASN][1000 genomes]
rs12139248	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12139286	1.00[ASN][1000 genomes]
rs12142178	1.00[ASN][1000 genomes]
rs12145630	1.00[ASN][1000 genomes]
rs1339494	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545762	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16833149	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16835254	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16835780	1.00[ASN][1000 genomes]
rs16836630	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17581380	1.00[CHB][hapmap]
rs17643644	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1804775	1.00[ASN][1000 genomes]
rs1824847	0.94[AFR][1000 genomes]
rs1824848	0.87[EUR][1000 genomes]
rs1824849	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1824850	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964542	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1975957	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027349	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039800	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044891	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2169895	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2198194	1.00[ASN][1000 genomes]
rs2279171	1.00[CHB][hapmap]
rs2318763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319280	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28366567	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28443768	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28560140	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28660389	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28753817	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3118119	0.95[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3208509	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34755378	1.00[ASN][1000 genomes]
rs35230744	1.00[ASN][1000 genomes]
rs3850838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3925724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4058847	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41264630	1.00[ASN][1000 genomes]
rs41265185	1.00[ASN][1000 genomes]
rs41302101	1.00[ASN][1000 genomes]
rs45548131	1.00[ASN][1000 genomes]
rs4926388	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4926391	0.87[EUR][1000 genomes]
rs4926406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.89[EUR][1000 genomes]
rs4926407	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926408	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4926411	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4926412	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55633125	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55647342	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55705001	1.00[ASN][1000 genomes]
rs55802315	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55840680	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55840906	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55909733	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55918911	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55963510	1.00[ASN][1000 genomes]
rs56125600	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133109	1.00[ASN][1000 genomes]
rs56188926	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56212907	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56265028	1.00[ASN][1000 genomes]
rs56305459	1.00[ASN][1000 genomes]
rs56349882	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369603	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56892994	1.00[ASN][1000 genomes]
rs57926929	0.95[EUR][1000 genomes]
rs58395667	1.00[ASN][1000 genomes]
rs58426216	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59054339	1.00[ASN][1000 genomes]
rs59607464	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657062	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66649150	1.00[ASN][1000 genomes]
rs6666959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687454	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694729	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67450539	1.00[ASN][1000 genomes]
rs67880399	1.00[ASN][1000 genomes]
rs68144650	1.00[ASN][1000 genomes]
rs72692803	1.00[ASN][1000 genomes]
rs72692804	1.00[ASN][1000 genomes]
rs72692805	1.00[ASN][1000 genomes]
rs72692807	1.00[ASN][1000 genomes]
rs72692808	1.00[ASN][1000 genomes]
rs72692810	1.00[ASN][1000 genomes]
rs72692811	1.00[ASN][1000 genomes]
rs72692812	1.00[ASN][1000 genomes]
rs72692813	1.00[ASN][1000 genomes]
rs72692814	1.00[ASN][1000 genomes]
rs72692816	1.00[ASN][1000 genomes]
rs72692818	1.00[ASN][1000 genomes]
rs72692819	1.00[ASN][1000 genomes]
rs72692834	1.00[ASN][1000 genomes]
rs72692835	1.00[ASN][1000 genomes]
rs72692837	1.00[ASN][1000 genomes]
rs72692840	1.00[ASN][1000 genomes]
rs72692842	1.00[ASN][1000 genomes]
rs72692843	1.00[ASN][1000 genomes]
rs72692849	1.00[ASN][1000 genomes]
rs72692851	1.00[ASN][1000 genomes]
rs72692854	1.00[ASN][1000 genomes]
rs72692857	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692861	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692862	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692865	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692866	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692869	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692886	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692893	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692895	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692896	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692897	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692898	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692899	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692900	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692901	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694905	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694906	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694908	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694914	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694915	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694917	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694918	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694919	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694923	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694926	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694927	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694928	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694933	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694936	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694942	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694943	0.95[EUR][1000 genomes]
rs72694944	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694945	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694946	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694950	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694951	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694953	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694954	0.92[EUR][1000 genomes]
rs72694956	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694957	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694959	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694960	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694961	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694962	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694964	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694965	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694969	1.00[ASN][1000 genomes]
rs72694974	1.00[ASN][1000 genomes]
rs72694990	1.00[ASN][1000 genomes]
rs72694993	1.00[ASN][1000 genomes]
rs72708162	1.00[ASN][1000 genomes]
rs73008195	1.00[ASN][1000 genomes]
rs7519918	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521768	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7521783	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532876	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7540847	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544531	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7550323	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550350	1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7553622	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554367	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555080	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs942453	1.00[ASN][1000 genomes]
rs9662055	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases
2	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7520930	POLR3GL	cis	cerebellum	SCAN
rs7520930	LIX1L	cis	cerebellum	SCAN
rs7520930	CTSS	cis	cerebellum	SCAN
rs7520930	CTSK	cis	cerebellum	SCAN
rs7520930	PLEKHO1	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150017600-150037600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:150018200-150038600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:150022800-150038600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:150032600-150037800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:150032800-150038600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:150033800-150038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:150034000-150038600	Weak transcription	Right Atrium	heart
8	chr1:150034200-150037600	Weak transcription	HMEC	breast
9	chr1:150034200-150038000	Weak transcription	Stomach Mucosa	stomach
10	chr1:150034200-150038000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:150034200-150038600	Weak transcription	Brain Anterior Caudate	brain
12	chr1:150034200-150038600	Weak transcription	Fetal Stomach	stomach
13	chr1:150034400-150038200	Weak transcription	Fetal Kidney	kidney
14	chr1:150034400-150038600	Weak transcription	Fetal Thymus	thymus
15	chr1:150035600-150039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:150036600-150037600	Enhancers	Brain Germinal Matrix	brain
17	chr1:150036600-150038600	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:150036600-150038800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:150036800-150037600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:150036800-150037800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:150037000-150037600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:150037000-150037800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:150037000-150037800	Enhancers	GM12878-XiMat	blood
24	chr1:150037000-150037800	Enhancers	NHLF	lung
25	chr1:150037000-150038000	Enhancers	HSMMtube	muscle
26	chr1:150037000-150038000	Enhancers	NH-A	brain
27	chr1:150037000-150038000	Enhancers	NHEK	skin
28	chr1:150037000-150038200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:150037000-150038200	Enhancers	HepG2	liver
30	chr1:150037000-150038400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:150037000-150038600	Enhancers	HSMM	muscle
32	chr1:150037000-150038600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr1:150037200-150037600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:150037200-150037600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:150037200-150037600	Enhancers	Dnd41	blood
36	chr1:150037200-150037600	Enhancers	HUVEC	blood vessel
37	chr1:150037200-150037600	Enhancers	K562	blood
38	chr1:150037200-150037800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:150037200-150037800	Weak transcription	Fetal Brain Male	brain
40	chr1:150037200-150038000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:150037200-150038000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:150037200-150038000	Enhancers	A549	lung
43	chr1:150037200-150038000	Enhancers	Osteobl	bone
44	chr1:150037200-150038200	Enhancers	Fetal Heart	heart
45	chr1:150037200-150038400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:150037200-150038400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:150037200-150038400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:150037200-150038600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr1:150037200-150038600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr1:150037200-150038600	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

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