Variant report

Variant	rs458370
Chromosome Location	chr5:70882245-70882246
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	MYC	chr5:70882130-70883653	K562	blood:	n/a	chr5:70882224-70882231 chr5:70882222-70882231 chr5:70882221-70882232 chr5:70882220-70882233 chr5:70883100-70883110 chr5:70882221-70882232
2	MYBL2	chr5:70881842-70883381	HepG2	liver:	n/a	n/a
3	MAX	chr5:70881980-70883895	HepG2	liver:	n/a	chr5:70882224-70882231 chr5:70882222-70882231 chr5:70882221-70882232 chr5:70882220-70882233 chr5:70883100-70883110 chr5:70882221-70882232
4	POLR2A	chr5:70882198-70883597	GM12878	blood:	n/a	n/a
5	TBP	chr5:70882191-70883777	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr5:70882158-70883641	K562	blood:	n/a	chr5:70883491-70883512
7	MYC	chr5:70882130-70883321	K562	blood:	n/a	chr5:70882224-70882231 chr5:70882222-70882231 chr5:70882221-70882232 chr5:70882220-70882233 chr5:70883100-70883110 chr5:70882221-70882232
8	HCFC1	chr5:70882080-70883740	Hela-S3	cervix:	n/a	n/a
9	HEY1	chr5:70882118-70883859	K562	blood:	n/a	chr5:70883102-70883111
10	HEY1	chr5:70882180-70883365	K562	blood:	n/a	chr5:70883102-70883111
11	IRF1	chr5:70881660-70883313	K562	blood:	n/a	chr5:70883045-70883054 chr5:70883059-70883073 chr5:70882354-70882375 chr5:70882377-70882398
12	POLR2A	chr5:70882120-70883466	PANC-1	pancreas:	n/a	n/a
13	MAX	chr5:70882073-70883731	HepG2	liver:	n/a	chr5:70882224-70882231 chr5:70882222-70882231 chr5:70882221-70882232 chr5:70882220-70882233 chr5:70883100-70883110 chr5:70882221-70882232
14	MYC	chr5:70882084-70883802	K562	blood:	n/a	chr5:70882224-70882231 chr5:70882222-70882231 chr5:70882221-70882232 chr5:70882220-70882233 chr5:70883100-70883110 chr5:70882221-70882232
15	POLR2A	chr5:70882141-70883315	HepG2	liver:	n/a	n/a
16	E2F6	chr5:70882079-70883762	K562	blood:	n/a	chr5:70883243-70883252 chr5:70883089-70883098
17	HCFC1	chr5:70882130-70883794	K562	blood:	n/a	n/a
18	POLR2A	chr5:70882231-70883811	GM19099	blood:	n/a	n/a
19	E2F6	chr5:70882157-70882310	K562	blood:	n/a	n/a
20	POLR2A	chr5:70882196-70883799	HepG2	liver:	n/a	n/a
21	MAX	chr5:70882071-70882539	K562	blood:	n/a	chr5:70882224-70882231 chr5:70882222-70882231 chr5:70882221-70882232 chr5:70882220-70882233 chr5:70882221-70882232
22	CBX3	chr5:70882034-70883396	K562	blood:	n/a	n/a
23	SP1	chr5:70882215-70883314	HepG2	liver:	n/a	chr5:70883060-70883070 chr5:70883059-70883071 chr5:70883060-70883070 chr5:70883059-70883071
24	POU2F2	chr5:70882124-70883493	GM12878	blood:	n/a	n/a
25	MAX	chr5:70882018-70882578	MCF-7	breast:	n/a	chr5:70882224-70882231 chr5:70882222-70882231 chr5:70882221-70882232 chr5:70882220-70882233 chr5:70882221-70882232
26	POLR2A	chr5:70882155-70883533	HepG2	liver:	n/a	n/a
27	POLR2A	chr5:70881697-70884039	HepG2	liver:	n/a	n/a
28	MXI1	chr5:70881905-70883803	HepG2	liver:	n/a	n/a
29	ELF1	chr5:70882117-70883274	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr5:70882116-70882442	SK-N-SH	brain:	n/a	n/a
31	TEAD4	chr5:70882064-70883104	HepG2	liver:	n/a	n/a
32	POLR2A	chr5:70882208-70883341	SK-N-SH	brain:	n/a	n/a
33	TBP	chr5:70882158-70883840	K562	blood:	n/a	n/a
34	POLR2A	chr5:70882197-70882464	MCF-7	breast:	n/a	n/a
35	IRF1	chr5:70882226-70883692	K562	blood:	n/a	chr5:70883045-70883054 chr5:70883059-70883073 chr5:70882354-70882375 chr5:70882377-70882398
36	POLR2A	chr5:70882096-70883994	GM12892	blood:	n/a	n/a
37	POLR2A	chr5:70882021-70883459	SK-N-SH	brain:	n/a	n/a
38	NFIC	chr5:70882074-70883274	HepG2	liver:	n/a	n/a
39	JUND	chr5:70882223-70883867	K562	blood:	n/a	n/a
40	TBL1XR1	chr5:70882162-70883680	K562	blood:	n/a	n/a
41	POLR2A	chr5:70882088-70883609	PFSK-1	brain:	n/a	n/a
42	MYC	chr5:70882225-70883797	NB4	blood:	n/a	chr5:70883100-70883110
43	MAX	chr5:70881867-70883628	HepG2	liver:	n/a	chr5:70882224-70882231 chr5:70882222-70882231 chr5:70882221-70882232 chr5:70882220-70882233 chr5:70883100-70883110 chr5:70882221-70882232
44	TAL1	chr5:70882241-70883053	K562	blood:	n/a	n/a
45	NR2F2	chr5:70882227-70883308	K562	blood:	n/a	n/a
46	ELF1	chr5:70882225-70882960	HepG2	liver:	n/a	n/a
47	MYBL2	chr5:70881967-70883651	HepG2	liver:	n/a	n/a
48	MAX	chr5:70881993-70883674	SK-N-SH	brain:	n/a	chr5:70882224-70882231 chr5:70882222-70882231 chr5:70882221-70882232 chr5:70882220-70882233 chr5:70883100-70883110 chr5:70882221-70882232
49	TAF1	chr5:70882092-70883369	SK-N-SH	brain:	n/a	n/a
50	MAX	chr5:70881941-70883700	SK-N-SH	brain:	n/a	chr5:70882224-70882231 chr5:70882222-70882231 chr5:70882221-70882232 chr5:70882220-70882233 chr5:70883100-70883110 chr5:70882221-70882232

No.	Distal block	Cell Line	Cell type
1	chr5:70882161..70884487-chr5:70891024..70893721,4	MCF-7	breast:
2	chr5:70749978..70751854-chr5:70881938..70884932,2	K562	blood:
3	chr5:70881577..70886916-chr5:70891929..70900227,16	MCF-7	breast:
4	chr5:70880665..70885311-chr5:70885640..70890340,6	K562	blood:
5	chr5:70880133..70886735-chr5:70895650..70901637,10	MCF-7	breast:
6	chr5:70881870..70884694-chr5:70885301..70891902,7	MCF-7	breast:
7	chr17:58754114..58755898-chr5:70882002..70883719,2	MCF-7	breast:
8	chr5:70874758..70876628-chr5:70880685..70882339,2	K562	blood:

Variant related genes	Relation type
MCCC2	TF binding region
ENSG00000145734	Chromatin interaction
ENSG00000131844	Chromatin interaction
ENSG00000141376	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs10942466	0.81[AMR][1000 genomes]
rs10942683	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11740849	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11742923	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11744961	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12109984	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12110291	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12514575	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12658383	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13153636	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13158264	0.83[AMR][1000 genomes]
rs13165848	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13168805	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13175174	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13185319	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185743	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1559260	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs156753	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs156754	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs156755	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs157044	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs157045	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs157046	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs166757	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1693895	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1698063	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs172148	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17334377	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs175872	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs182190	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1833856	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs185733	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs188059	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs190692	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1961760	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2059192	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2059193	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2059194	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2059195	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2315519	0.83[AMR][1000 genomes]
rs2315534	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2432059	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2432060	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2454086	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2646639	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2652615	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs276590	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs276591	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs276592	0.81[AMR][1000 genomes]
rs276593	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs276594	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs276595	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs276597	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs276598	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs276599	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs276600	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs276601	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs277939	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs277940	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs277942	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277944	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277945	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277948	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277954	0.87[AMR][1000 genomes]
rs277957	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277958	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277960	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs277961	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277962	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277963	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs277964	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs277965	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs277966	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs277967	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs277969	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277978	0.81[AMR][1000 genomes]
rs277986	0.86[AMR][1000 genomes]
rs279290	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs279291	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs279322	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs279337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35327154	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs35420270	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35696325	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36036841	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs375458	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3761965	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3761967	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs378585	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384732	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3890749	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs392791	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs404692	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs410776	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs418738	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4337836	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs439698	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs441691	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs445771	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs451229	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs457908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs458009	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs458150	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs458534	0.89[ASN][1000 genomes]
rs459298	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs459787	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs460778	0.87[AMR][1000 genomes]
rs461215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs462282	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs463871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs464155	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464182	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs464594	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464962	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs465073	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs466930	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs467160	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs467381	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs467413	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs467563	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs467620	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs467851	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs467901	0.82[AMR][1000 genomes]
rs468028	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468033	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468128	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs468158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468446	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468467	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468564	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468633	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468658	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468832	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs469039	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs469142	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs469369	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs469379	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs469548	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs469617	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4703986	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4704049	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4704096	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs541035	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs560394	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62361813	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62374360	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66528760	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6871754	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6885523	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs715748	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7442961	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7443763	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7444320	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7447146	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7448990	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7702940	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7726336	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7737101	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9791120	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs458370	RP11-195E2.1	cis	Nerve Tibial	GTEx
rs458370	BDP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70856800-70882400	Weak transcription	NHEK	skin
2	chr5:70859200-70882400	Weak transcription	Right Ventricle	heart
3	chr5:70861400-70882400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:70861600-70882400	Weak transcription	Primary B cells from cord blood	blood
5	chr5:70863200-70882400	Weak transcription	HUVEC	blood vessel
6	chr5:70864200-70882400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:70864200-70882400	Weak transcription	HSMM	muscle
8	chr5:70864400-70882400	Weak transcription	HSMMtube	muscle
9	chr5:70864600-70882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:70864600-70882400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:70864600-70882400	Weak transcription	Esophagus	oesophagus
12	chr5:70864600-70882400	Weak transcription	Fetal Intestine Large	intestine
13	chr5:70864600-70882400	Weak transcription	Thymus	Thymus
14	chr5:70864600-70882600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:70864800-70882400	Weak transcription	A549	lung
16	chr5:70865000-70882400	Weak transcription	Small Intestine	intestine
17	chr5:70865000-70882400	Weak transcription	HMEC	breast
18	chr5:70865600-70882400	Weak transcription	Fetal Stomach	stomach
19	chr5:70868200-70882400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:70869600-70882400	Weak transcription	Primary T cells from cord blood	blood
21	chr5:70870400-70882600	Weak transcription	Fetal Heart	heart
22	chr5:70874000-70882400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:70874000-70882400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:70874400-70882400	Weak transcription	Fetal Intestine Small	intestine
25	chr5:70880000-70882400	Weak transcription	Aorta	Aorta
26	chr5:70881800-70883600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr5:70881800-70884200	Active TSS	K562	blood
28	chr5:70882000-70882400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:70882000-70884000	Active TSS	Ovary	ovary
30	chr5:70882000-70884200	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:70882000-70884200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr5:70882000-70884600	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr5:70882200-70882400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr5:70882200-70882400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr5:70882200-70882400	Enhancers	Primary hematopoietic stem cells	blood
36	chr5:70882200-70882400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:70882200-70882400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr5:70882200-70882400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:70882200-70882400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr5:70882200-70882400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr5:70882200-70882400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:70882200-70882400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:70882200-70882400	Active TSS	Muscle Satellite Cultured Cells	--
44	chr5:70882200-70882400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr5:70882200-70882400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:70882200-70882400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:70882200-70882400	Enhancers	Brain Angular Gyrus	brain
48	chr5:70882200-70882400	Active TSS	Colon Smooth Muscle	Colon
49	chr5:70882200-70882400	Enhancers	Fetal Lung	lung
50	chr5:70882200-70882400	Enhancers	Fetal Thymus	thymus

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