Variant report

Variant	rs467413
Chromosome Location	chr5:70882917-70882918
allele	A/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	chr5:70882830-70883446	A549	lung:	n/a	n/a
5	POLR2A	chr5:70882522-70883509	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:70882198-70883597	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:70882589-70883561	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:70882433-70883823	GM12891	blood:	n/a	n/a
9	SMC3	chr5:70882795-70883689	Hela-S3	cervix:	n/a	n/a
10	MTA3	chr5:70882525-70883641	GM12878	blood:	n/a	n/a
11	SIN3AK20	chr5:70882749-70883706	HCT-116	colon:	n/a	n/a
12	RELA	chr5:70882338-70883846	GM15510	blood:	n/a	n/a
13	PAX5	chr5:70882777-70883393	GM12878	blood:	n/a	n/a
14	SP1	chr5:70882806-70883263	GM12878	blood:	n/a	chr5:70883060-70883070 chr5:70883059-70883071 chr5:70883060-70883070 chr5:70883059-70883071
15	TCF7L2	chr5:70882671-70883295	PANC-1	pancreas:	n/a	n/a
16	CBX3	chr5:70882642-70883499	HCT-116	colon:	n/a	n/a
17	TBP	chr5:70882191-70883777	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr5:70882416-70883830	Hela-S3	cervix:	n/a	n/a
19	BHLHE40	chr5:70882158-70883641	K562	blood:	n/a	chr5:70883491-70883512
20	GTF2B	chr5:70882577-70883298	K562	blood:	n/a	n/a
21	POU2F2	chr5:70882462-70883376	GM12891	blood:	n/a	n/a
22	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
23	TAF1	chr5:70882318-70883393	K562	blood:	n/a	n/a
24	HCFC1	chr5:70882080-70883740	Hela-S3	cervix:	n/a	n/a
25	TAF1	chr5:70882532-70883504	HepG2	liver:	n/a	n/a
26	HEY1	chr5:70882118-70883859	K562	blood:	n/a	chr5:70883102-70883111
27	POLR2A	chr5:70882731-70883760	Hela-S3	cervix:	n/a	n/a
28	HEY1	chr5:70882180-70883365	K562	blood:	n/a	chr5:70883102-70883111
29	USF1	chr5:70882756-70883585	SK-N-SH	brain:	n/a	chr5:70883491-70883512
30	IRF1	chr5:70881660-70883313	K562	blood:	n/a	chr5:70883045-70883054 chr5:70883059-70883073 chr5:70882354-70882375 chr5:70882377-70882398
31	RELA	chr5:70882569-70883812	GM12891	blood:	n/a	n/a
32	ATF2	chr5:70882534-70883150	GM12878	blood:	n/a	n/a
33	ZBTB33	chr5:70882846-70883122	HepG2	liver:	n/a	n/a
34	ZBTB7A	chr5:70882491-70883279	K562	blood:	n/a	n/a
35	POLR2A	chr5:70882120-70883466	PANC-1	pancreas:	n/a	n/a
36	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
37	RELA	chr5:70882798-70883770	GM19193	blood:	n/a	n/a
38	RFX5	chr5:70882350-70883329	K562	blood:	n/a	n/a
39	POLR2A	chr5:70882722-70883564	Hela-S3	cervix:	n/a	n/a
40	PML	chr5:70882433-70883450	K562	blood:	n/a	chr5:70883130-70883138
41	MAX	chr5:70882491-70883479	HUVEC	blood vessel:	n/a	chr5:70883100-70883110
42	USF1	chr5:70882801-70883380	A549	lung:	n/a	n/a
43	USF1	chr5:70882861-70883306	A549	lung:	n/a	n/a
44	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
45	POLR2A	chr5:70882141-70883315	HepG2	liver:	n/a	n/a
46	SMARCB1	chr5:70882806-70883829	Hela-S3	cervix:	n/a	n/a
47	REST	chr5:70882564-70883715	H1-neurons	neurons:	n/a	chr5:70883034-70883043
48	E2F6	chr5:70882079-70883762	K562	blood:	n/a	chr5:70883243-70883252 chr5:70883089-70883098
49	BCL3	chr5:70882591-70883548	A549	lung:	n/a	chr5:70883239-70883252
50	TAF1	chr5:70882279-70883869	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:70882903-70882953	LNCaP	prostate:	n/a
2	chr5:70882903-70882953	A549	lung:	n/a
3	chr5:70882903-70882953	HPAEpiC	pulmonary alveolar:	n/a
4	chr5:70882903-70882953	K562	blood:	n/a
5	chr5:70882903-70882953	HEK293	kidney:	embryo
6	chr5:70882903-70882953	PFSK-1	brain:	n/a
7	chr5:70882888-70882938	ECC-1	luminal epithelium:	n/a
8	chr5:70882903-70882953	Hela-S3	cervix:	n/a
9	chr5:70882903-70882953	HRPEpiC	eye:	n/a
10	chr5:70882903-70882953	NT2-D1	testis:	n/a
11	chr5:70882903-70882953	AG04449	skin:	fetal
12	chr5:70882903-70882953	AG10803	skin:	n/a
13	chr5:70882888-70882938	HepG2	liver:	n/a
14	chr5:70882888-70882938	CMK	blood:	n/a
15	chr5:70882888-70882938	NB4	blood:	n/a
16	chr5:70882903-70882953	GM06990	blood:	n/a
17	chr5:70882888-70882938	GM12878	blood:	n/a
18	chr5:70882888-70882938	SK-N-SH	brain:	n/a
19	chr5:70882903-70882953	NHBE	bronchial:	n/a
20	chr5:70882903-70882953	BE2_C	brain:	n/a
21	chr5:70882888-70882938	SAEC	small airway:	n/a
22	chr5:70882903-70882953	RPTEC	kidney:	n/a
23	chr5:70882888-70882938	HRPEpiC	eye:	n/a
24	chr5:70882888-70882938	HCT-116	colon:	n/a
25	chr5:70882888-70882938	IMR90	lung:	fetal
26	chr5:70882888-70882938	NT2-D1	testis:	n/a
27	chr5:70882903-70882953	GM12891	blood:	n/a
28	chr5:70882888-70882938	GM06990	blood:	n/a
29	chr5:70882888-70882938	NHBE	bronchial:	n/a
30	chr5:70882888-70882938	HIPEpiC	eye:	n/a
31	chr5:70882888-70882938	HCM	heart:	n/a
32	chr5:70882888-70882938	ProgFib	skin:	n/a
33	chr5:70882888-70882938	GM19239	blood:	n/a
34	chr5:70882903-70882953	HCT-116	colon:	n/a
35	chr5:70882903-70882953	IMR90	lung:	fetal
36	chr5:70882903-70882953	HNPCEpiC	eye:	n/a
37	chr5:70882903-70882953	HCPEpiC	choroid plexus:	n/a
38	chr5:70882903-70882953	SK-N-SH_RA	brain:	n/a
39	chr5:70882903-70882953	PANC-1	pancreas:	n/a
40	chr5:70882888-70882938	HUVEC	blood vessel:	n/a
41	chr5:70882888-70882938	AG04449	skin:	fetal
42	chr5:70882903-70882953	CMK	blood:	n/a
43	chr5:70882888-70882938	HRCEpiC	kidney:	n/a
44	chr5:70882888-70882938	HEK293	kidney:	embryo
45	chr5:70882903-70882953	AG09319	gingival:	n/a
46	chr5:70882903-70882953	HEEpiC	esophagus:	n/a
47	chr5:70882903-70882953	SK-N-MC	brain:	n/a
48	chr5:70882888-70882938	HMEC	breast:	n/a
49	chr5:70882888-70882938	T-47D	breast:	n/a
50	chr5:70882888-70882938	LNCaP	prostate:	n/a

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	chr5:70882648..70886012-chr5:70920531..70924466,3	K562	blood:
5	chr5:70880665..70885311-chr5:70885640..70890340,6	K562	blood:
6	chr5:70880133..70886735-chr5:70895650..70901637,10	MCF-7	breast:
7	chr5:70881870..70884694-chr5:70885301..70891902,7	MCF-7	breast:
8	chr17:58754114..58755898-chr5:70882002..70883719,2	MCF-7	breast:
9	chr5:70882556..70884981-chr5:176924076..176925754,2	MCF-7	breast:

Variant related genes	Relation type
MCCC2	TF binding region
MCCC2	CpG island
ENSG00000145734	Chromatin interaction
ENSG00000196923	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	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11742923	0.81[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	0.85[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	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13158264	0.83[AMR][1000 genomes]
rs13165848	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13168805	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13175174	0.89[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	0.83[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	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs156755	0.86[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	0.97[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	0.97[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	0.87[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	0.90[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	0.97[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	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2059194	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2059195	0.81[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	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2432060	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2454086	0.92[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	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs276591	0.83[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	0.90[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	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs276600	0.90[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	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277944	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277945	0.96[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277958	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277960	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs277961	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs277962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs277963	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs277964	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs277965	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs277966	0.83[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	0.89[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	0.97[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	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35696325	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36036841	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs375458	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3761965	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3761967	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs378585	0.97[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	0.94[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	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs439698	0.81[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs458009	0.96[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]
rs458370	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs458534	0.89[ASN][1000 genomes]
rs459298	0.97[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs462282	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs463871	0.97[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs464962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs465073	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs466930	0.96[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]
rs467563	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs467620	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs467851	0.97[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468128	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs468158	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468446	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468467	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468564	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468633	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468658	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468776	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs468832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs469039	0.96[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	0.93[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	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4704049	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4704096	0.97[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	0.81[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	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66528760	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6871754	0.89[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	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7726336	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7737101	0.89[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
rs467413	BDP1	Cis_1M	lymphoblastoid	RTeQTL
rs467413	RP11-195E2.1	cis	Nerve Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70881800-70883600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr5:70881800-70884200	Active TSS	K562	blood
3	chr5:70882000-70884000	Active TSS	Ovary	ovary
4	chr5:70882000-70884200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:70882000-70884200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:70882000-70884600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:70882200-70883000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr5:70882200-70883000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr5:70882200-70883000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:70882200-70883000	Flanking Active TSS	Liver	Liver
11	chr5:70882200-70883000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr5:70882200-70883000	Flanking Active TSS	Dnd41	blood
13	chr5:70882200-70883000	Flanking Active TSS	Hela-S3	cervix
14	chr5:70882200-70883400	Active TSS	Brain Substantia Nigra	brain
15	chr5:70882200-70883400	Active TSS	NHLF	lung
16	chr5:70882200-70883600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:70882200-70883600	Active TSS	Brain Hippocampus Middle	brain
18	chr5:70882200-70883600	Active TSS	Fetal Muscle Trunk	muscle
19	chr5:70882200-70883800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr5:70882200-70883800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:70882200-70883800	Bivalent/Poised TSS	HepG2	liver
22	chr5:70882200-70884000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr5:70882200-70884000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:70882200-70884000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:70882200-70884000	Active TSS	Left Ventricle	heart
26	chr5:70882200-70884200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:70882200-70884400	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr5:70882200-70884400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr5:70882200-70884400	Active TSS	Right Atrium	heart
30	chr5:70882200-70884800	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr5:70882200-70884800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:70882200-70885600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:70882400-70883000	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr5:70882400-70883000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:70882400-70883000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr5:70882400-70883000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr5:70882400-70883000	Flanking Active TSS	Fetal Lung	lung
38	chr5:70882400-70883000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr5:70882400-70883000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr5:70882400-70883000	Flanking Active TSS	NHEK	skin
41	chr5:70882400-70883400	Active TSS	NH-A	brain
42	chr5:70882400-70883600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:70882400-70883600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:70882400-70883600	Active TSS	Brain Germinal Matrix	brain
45	chr5:70882400-70883600	Active TSS	Colonic Mucosa	Colon
46	chr5:70882400-70883600	Active TSS	Fetal Brain Male	brain
47	chr5:70882400-70883600	Active TSS	Lung	lung
48	chr5:70882400-70883600	Active TSS	Thymus	Thymus
49	chr5:70882400-70883800	Active TSS	HSMMtube	muscle
50	chr5:70882400-70883800	Flanking Active TSS	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

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