Variant report

Variant	rs402128
Chromosome Location	chr6:80714768-80714769
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	GTF2F1	chr6:80713901-80714830	Hela-S3	cervix:	n/a	n/a
2	MYC	chr6:80714309-80714862	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr6:80714432-80714923	H1-hESC	embryonic stem cell:	n/a	chr6:80714520-80714530
4	SP1	chr6:80713806-80714865	HCT-116	colon:	n/a	chr6:80714653-80714663 chr6:80714513-80714525 chr6:80714050-80714059 chr6:80714259-80714273 chr6:80714241-80714250 chr6:80714576-80714585 chr6:80714262-80714274 chr6:80714575-80714587 chr6:80714514-80714524 chr6:80714515-80714524 chr6:80714572-80714586 chr6:80714513-80714525 chr6:80714510-80714524 chr6:80714653-80714663 chr6:80714326-80714347
5	MAZ	chr6:80713727-80714825	GM12878	blood:	n/a	n/a
6	MAZ	chr6:80713294-80715039	IMR90	lung:	n/a	chr6:80713708-80713718 chr6:80713594-80713603
7	KAP1	chr6:80713301-80715345	HEK293	kidney:	n/a	n/a
8	SIN3AK20	chr6:80714073-80714887	PFSK-1	brain:	n/a	n/a
9	TBP	chr6:80713900-80714972	K562	blood:	n/a	n/a
10	POLR2A	chr6:80713261-80714856	GM19099	blood:	n/a	n/a
11	ZBTB7A	chr6:80714500-80714772	K562	blood:	n/a	n/a
12	MAX	chr6:80713771-80714783	ECC-1	luminal epithelium:	n/a	n/a
13	CHD2	chr6:80713852-80714806	Hela-S3	cervix:	n/a	chr6:80714520-80714530
14	SIN3A	chr6:80713506-80715180	H1-hESC	embryonic stem cell:	n/a	n/a
15	NR2F2	chr6:80714015-80714919	K562	blood:	n/a	n/a
16	YY1	chr6:80714197-80714799	ECC-1	luminal epithelium:	n/a	n/a
17	SIN3AK20	chr6:80713638-80714872	MCF-7	breast:	n/a	n/a
18	ELF1	chr6:80713933-80714797	MCF-7	breast:	n/a	n/a
19	SIN3AK20	chr6:80714277-80714828	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr6:80713388-80714834	HL-60	blood:	n/a	n/a
21	MAX	chr6:80713322-80714878	NB4	blood:	n/a	chr6:80713708-80713718 chr6:80713594-80713603
22	TEAD4	chr6:80714226-80714773	H1-hESC	embryonic stem cell:	n/a	n/a
23	MXI1	chr6:80713877-80714890	H1-hESC	embryonic stem cell:	n/a	n/a
24	NFYB	chr6:80713947-80714836	K562	blood:	n/a	chr6:80714285-80714300 chr6:80714325-80714340 chr6:80714325-80714340 chr6:80714325-80714339 chr6:80714290-80714300 chr6:80714322-80714337
25	ELF1	chr6:80713868-80714833	HCT-116	colon:	n/a	n/a
26	POLR2A	chr6:80713786-80714811	K562	blood:	n/a	n/a
27	SP1	chr6:80713962-80714775	H1-hESC	embryonic stem cell:	n/a	chr6:80714653-80714663 chr6:80714513-80714525 chr6:80714050-80714059 chr6:80714259-80714273 chr6:80714241-80714250 chr6:80714576-80714585 chr6:80714262-80714274 chr6:80714575-80714587 chr6:80714514-80714524 chr6:80714515-80714524 chr6:80714572-80714586 chr6:80714513-80714525 chr6:80714510-80714524 chr6:80714653-80714663 chr6:80714326-80714347
28	RAD21	chr6:80714472-80714899	A549	lung:	n/a	n/a
29	HCFC1	chr6:80714049-80714774	K562	blood:	n/a	n/a
30	TBP	chr6:80713976-80714925	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr6:80713036-80715077	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:80713880-80714851	K562	blood:	n/a	n/a
33	ELF1	chr6:80713855-80714774	GM12878	blood:	n/a	n/a
34	MXI1	chr6:80713571-80715375	IMR90	lung:	n/a	n/a
35	MAX	chr6:80713940-80714845	A549	lung:	n/a	n/a
36	JUND	chr6:80713819-80715468	K562	blood:	n/a	chr6:80715313-80715322
37	POLR2A	chr6:80713585-80714869	GM15510	blood:	n/a	n/a
38	TBL1XR1	chr6:80714118-80714840	K562	blood:	n/a	n/a
39	SIN3AK20	chr6:80714109-80714863	K562	blood:	n/a	n/a
40	E2F4	chr6:80713236-80716364	MCF10A-Er-Src	breast:	n/a	chr6:80713962-80713969 chr6:80715312-80715321 chr6:80713962-80713969 chr6:80714200-80714210 chr6:80713962-80713969 chr6:80715314-80715323
41	POLR2A	chr6:80713397-80715072	HepG2	liver:	n/a	n/a
42	HCFC1	chr6:80713754-80715086	Hela-S3	cervix:	n/a	n/a
43	MYC	chr6:80713301-80715029	NB4	blood:	n/a	chr6:80713708-80713718 chr6:80713594-80713603
44	POLR2A	chr6:80713597-80714873	GM18951	blood:	n/a	n/a
45	POLR2A	chr6:80713431-80714831	GM19193	blood:	n/a	n/a
46	SP1	chr6:80713782-80714849	HCT-116	colon:	n/a	chr6:80714653-80714663 chr6:80714513-80714525 chr6:80714050-80714059 chr6:80714259-80714273 chr6:80714241-80714250 chr6:80714576-80714585 chr6:80714262-80714274 chr6:80714575-80714587 chr6:80714514-80714524 chr6:80714515-80714524 chr6:80714572-80714586 chr6:80714513-80714525 chr6:80714510-80714524 chr6:80714653-80714663 chr6:80714326-80714347
47	NRF1	chr6:80714184-80714777	GM12878	blood:	n/a	chr6:80714450-80714464
48	FOXM1	chr6:80714029-80714799	SK-N-SH	brain:	n/a	n/a
49	IRF1	chr6:80713949-80714785	K562	blood:	n/a	chr6:80714513-80714527
50	MAX	chr6:80714040-80714853	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:80714760-80714810	ProgFib	skin:	n/a
2	chr6:80714760-80714810	Hela-S3	cervix:	n/a
3	chr6:80714760-80714810	GM12891	blood:	n/a
4	chr6:80714760-80714810	HRE	kidney:	n/a
5	chr6:80714760-80714810	SK-N-MC	brain:	n/a
6	chr6:80714760-80714810	HEEpiC	esophagus:	n/a
7	chr6:80714760-80714810	MCF10A-Er-Src	breast:	n/a
8	chr6:80714760-80714810	U87	brain:	n/a
9	chr6:80714760-80714810	IMR90	lung:	fetal
10	chr6:80714760-80714810	MCF-7	breast:	n/a
11	chr6:80714760-80714810	HMEC	breast:	n/a
12	chr6:80714760-80714810	HCF	heart:	n/a
13	chr6:80714760-80714810	RPTEC	kidney:	n/a
14	chr6:80714760-80714810	T-47D	breast:	n/a
15	chr6:80714760-80714810	AoSMC	blood vessel:	n/a
16	chr6:80714760-80714810	Jurkat	blood:	n/a
17	chr6:80714760-80714810	AG10803	skin:	n/a
18	chr6:80714760-80714810	HNPCEpiC	eye:	n/a
19	chr6:80714760-80714810	HCPEpiC	choroid plexus:	n/a
20	chr6:80714760-80714810	SK-N-SH	brain:	n/a
21	chr6:80714760-80714810	HEK293	kidney:	embryo
22	chr6:80714760-80714810	HIPEpiC	eye:	n/a
23	chr6:80714760-80714810	HAEpiC	amniotic membrane:	n/a
24	chr6:80714760-80714810	CMK	blood:	n/a
25	chr6:80714760-80714810	HCT-116	colon:	n/a
26	chr6:80714760-80714810	K562	blood:	n/a
27	chr6:80714760-80714810	HRCEpiC	kidney:	n/a
28	chr6:80714760-80714810	ECC-1	luminal epithelium:	n/a
29	chr6:80714760-80714810	GM12878	blood:	n/a
30	chr6:80714760-80714810	HL-60	blood:	n/a
31	chr6:80714760-80714810	AG09309	skin:	n/a
32	chr6:80714760-80714810	HRPEpiC	eye:	n/a
33	chr6:80714760-80714810	BE2_C	brain:	n/a
34	chr6:80714760-80714810	SKMC	muscle:	n/a
35	chr6:80714760-80714810	Hepatocyte	liver:	n/a
36	chr6:80714760-80714810	SAEC	small airway:	n/a
37	chr6:80714760-80714810	GM06990	blood:	n/a
38	chr6:80714760-80714810	GM12892	blood:	n/a
39	chr6:80714760-80714810	PANC-1	pancreas:	n/a
40	chr6:80714760-80714810	Caco-2	colon:	n/a
41	chr6:80714760-80714810	HepG2	liver:	n/a
42	chr6:80714760-80714810	H1-hESC	embryonic stem cell:	embryo
43	chr6:80714760-80714810	NHDF-neo	bronchial:	n/a
44	chr6:80714760-80714810	NHBE	bronchial:	n/a
45	chr6:80714760-80714810	SK-N-SH_RA	brain:	n/a
46	chr6:80714760-80714810	A549	lung:	n/a
47	chr6:80714760-80714810	HUVEC	blood vessel:	n/a
48	chr6:80714760-80714810	NB4	blood:	n/a
49	chr6:80714760-80714810	NT2-D1	testis:	n/a
50	chr6:80714760-80714810	AG09319	gingival:	n/a

Variant related genes	Relation type
TTK	TF binding region
TTK	CpG island

Extended variants
information (count: 124 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1205577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1205579	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12193074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs151583	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151588	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151641	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs151642	0.82[EUR][1000 genomes]
rs151644	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151645	0.83[EUR][1000 genomes]
rs151646	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151648	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151649	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs151656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151657	0.82[EUR][1000 genomes]
rs151658	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151661	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151663	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs151664	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs181177	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251783	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2251790	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239494	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239496	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs239497	0.82[EUR][1000 genomes]
rs239498	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs239500	0.82[EUR][1000 genomes]
rs239501	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs239502	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs239511	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239512	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239514	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239515	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239552	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239554	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239556	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs239558	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239560	0.82[EUR][1000 genomes]
rs239562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs239563	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs239566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs239567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs239568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs239569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs239570	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs239571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239573	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs239574	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239575	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239576	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs239577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239580	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239581	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239582	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239583	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239584	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239585	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239588	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239589	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs239590	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs240212	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240213	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240214	0.81[EUR][1000 genomes]
rs240216	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240217	0.82[EUR][1000 genomes]
rs240218	0.82[EUR][1000 genomes]
rs240224	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs240225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240237	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs240238	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2757083	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812152	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs420040	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4386773	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs465480	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs465483	0.81[EUR][1000 genomes]
rs591012	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61794	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61795	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61796	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs621506	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs642745	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs648845	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs653665	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs667871	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs669278	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs672372	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs681405	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs681435	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs681931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs683167	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6917725	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6924930	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6930227	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6934606	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6935728	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7745127	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7759915	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9294169	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9343958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9343959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9343960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9352791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9352792	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9352793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9352794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9359407	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9361581	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9443730	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9448875	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9448876	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs402128	ELOVL4	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80713200-80715200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:80713200-80715400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr6:80713200-80715400	Active TSS	NHDF-Ad	bronchial
4	chr6:80713200-80715600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:80713400-80714800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:80713400-80714800	Bivalent/Poised TSS	HepG2	liver
7	chr6:80713400-80714800	Active TSS	HSMMtube	muscle
8	chr6:80713400-80715000	Active TSS	Fetal Brain Male	brain
9	chr6:80713400-80715000	Active TSS	Psoas Muscle	Psoas
10	chr6:80713400-80715200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr6:80713400-80715200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:80713400-80715200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:80713400-80715200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:80713400-80715200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:80713400-80715400	Active TSS	Fetal Intestine Large	intestine
16	chr6:80713400-80715600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:80713400-80715800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:80713400-80715800	Active TSS	A549	lung
19	chr6:80713400-80717200	Active TSS	Thymus	Thymus
20	chr6:80713600-80714800	Active TSS	Aorta	Aorta
21	chr6:80713600-80714800	Active TSS	Fetal Heart	heart
22	chr6:80713600-80714800	Active TSS	Lung	lung
23	chr6:80713600-80714800	Active TSS	Ovary	ovary
24	chr6:80713600-80714800	Active TSS	HSMM	muscle
25	chr6:80713600-80715000	Active TSS	Stomach Mucosa	stomach
26	chr6:80713600-80715200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:80713600-80715200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:80713600-80715200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:80713600-80715400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr6:80713600-80715400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:80713600-80715400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:80713600-80715600	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr6:80713600-80715600	Active TSS	H1 Cell Line	embryonic stem cell
34	chr6:80713600-80715600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:80713600-80715600	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr6:80713600-80716000	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr6:80713600-80716000	Active TSS	NHLF	lung
38	chr6:80713800-80714800	Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:80713800-80715000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:80713800-80715000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:80713800-80715800	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr6:80713800-80716600	Active TSS	Fetal Thymus	thymus
43	chr6:80714000-80714800	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr6:80714000-80714800	Active TSS	Dnd41	blood
45	chr6:80714000-80714800	Active TSS	Hela-S3	cervix
46	chr6:80714000-80714800	Active TSS	Osteobl	bone
47	chr6:80714000-80715000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:80714000-80715000	Active TSS	NHEK	skin
49	chr6:80714000-80715200	Active TSS	K562	blood
50	chr6:80714000-80715600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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