Variant report

Variant	rs9567972
Chromosome Location	chr13:48575292-48575293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:259)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr13:48575237-48576085	A549	lung:	n/a	n/a
2	RAD21	chr13:48574956-48575709	IMR90	lung:	n/a	n/a
3	POLR2A	chr13:48574875-48575763	ECC-1	luminal epithelium:	n/a	n/a
4	YY1	chr13:48574944-48575650	K562	blood:	n/a	chr13:48575082-48575096 chr13:48575430-48575444 chr13:48575462-48575476 chr13:48575431-48575445
5	POLR2A	chr13:48575095-48575731	PFSK-1	brain:	n/a	n/a
6	SP4	chr13:48575217-48575636	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr13:48575132-48575872	HepG2	liver:	n/a	n/a
8	POLR2A	chr13:48575031-48575824	GM12892	blood:	n/a	n/a
9	POLR2A	chr13:48575071-48575764	K562	blood:	n/a	n/a
10	TEAD4	chr13:48575240-48575596	H1-hESC	embryonic stem cell:	n/a	n/a
11	TFAP2C	chr13:48574861-48576517	Hela-S3	cervix:	n/a	chr13:48575177-48575192
12	POLR2A	chr13:48575208-48575529	HepG2	liver:	n/a	n/a
13	SIN3AK20	chr13:48575150-48575658	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr13:48575021-48575680	GM12878	blood:	n/a	n/a
15	MXI1	chr13:48575247-48575489	K562	blood:	n/a	n/a
16	POLR2A	chr13:48575017-48575856	HUVEC	blood vessel:	n/a	n/a
17	TCF7L2	chr13:48575208-48576583	Hela-S3	cervix:	n/a	n/a
18	NRF1	chr13:48575162-48575663	GM12878	blood:	n/a	chr13:48575437-48575448 chr13:48575467-48575478 chr13:48575437-48575446 chr13:48575432-48575441 chr13:48575437-48575451 chr13:48575434-48575448 chr13:48575436-48575447
19	YY1	chr13:48575099-48575561	GM12892	blood:	n/a	chr13:48575430-48575444 chr13:48575462-48575476 chr13:48575431-48575445
20	YY1	chr13:48574822-48575665	SK-N-SH_RA	brain:	n/a	chr13:48575082-48575096 chr13:48575430-48575444 chr13:48575462-48575476 chr13:48575431-48575445
21	SIN3A	chr13:48574989-48575596	GM12878	blood:	n/a	n/a
22	TCF7L2	chr13:48575284-48576033	PANC-1	pancreas:	n/a	n/a
23	PML	chr13:48574967-48575733	GM12878	blood:	n/a	n/a
24	POLR2A	chr13:48575112-48575815	PANC-1	pancreas:	n/a	n/a
25	TBP	chr13:48575220-48575733	K562	blood:	n/a	n/a
26	POLR2A	chr13:48575097-48575790	GM15510	blood:	n/a	n/a
27	RFX5	chr13:48575286-48575839	HepG2	liver:	n/a	n/a
28	POLR2A	chr13:48574934-48575852	HL-60	blood:	n/a	n/a
29	POLR2A	chr13:48575039-48575677	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr13:48575226-48575721	Hela-S3	cervix:	n/a	n/a
31	PAX5	chr13:48575134-48575579	GM12892	blood:	n/a	n/a
32	MAZ	chr13:48575237-48575749	K562	blood:	n/a	n/a
33	POLR2A	chr13:48575107-48575859	Raji	blood:	n/a	n/a
34	POLR2A	chr13:48575081-48575980	A549	lung:	n/a	n/a
35	POLR2A	chr13:48575076-48576020	Hela-S3	cervix:	n/a	n/a
36	TFAP2A	chr13:48574863-48575811	Hela-S3	cervix:	n/a	chr13:48575182-48575190 chr13:48575179-48575193
37	POLR2A	chr13:48574838-48576045	HepG2	liver:	n/a	n/a
38	SIN3AK20	chr13:48574704-48575992	MCF-7	breast:	n/a	n/a
39	RCOR1	chr13:48575248-48575994	Hela-S3	cervix:	n/a	n/a
40	TAF1	chr13:48575112-48575767	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr13:48574980-48575757	GM19099	blood:	n/a	n/a
42	REST	chr13:48575209-48575711	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr13:48575025-48575466	K562	blood:	n/a	n/a
44	TCF12	chr13:48575155-48576106	A549	lung:	n/a	n/a
45	POLR2A	chr13:48575122-48575650	GM12892	blood:	n/a	n/a
46	POLR2A	chr13:48575197-48576375	MCF10A-Er-Src	breast:	n/a	n/a
47	SP1	chr13:48575228-48575970	A549	lung:	n/a	chr13:48575496-48575508 chr13:48575497-48575506 chr13:48575497-48575511
48	HCFC1	chr13:48574738-48575894	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr13:48575046-48575846	Gliobla	brain:	n/a	n/a
50	HEY1	chr13:48575187-48575695	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:48575280-48575330	HL-60	blood:	n/a
2	chr13:48575280-48575330	ovcar-3	ovarian:	n/a
3	chr13:48575280-48575330	Hepatocyte	liver:	n/a
4	chr13:48575280-48575330	HRE	kidney:	n/a
5	chr13:48575280-48575330	HepG2	liver:	n/a
6	chr13:48575280-48575330	SKMC	muscle:	n/a
7	chr13:48575280-48575330	MCF10A-Er-Src	breast:	n/a
8	chr13:48575280-48575330	A549	lung:	n/a
9	chr13:48575280-48575330	HIPEpiC	eye:	n/a
10	chr13:48575280-48575330	GM12892	blood:	n/a
11	chr13:48575280-48575330	AG09309	skin:	n/a
12	chr13:48575280-48575330	GM12891	blood:	n/a
13	chr13:48575280-48575330	BE2_C	brain:	n/a
14	chr13:48575280-48575330	HCM	heart:	n/a
15	chr13:48575280-48575330	NHDF-neo	bronchial:	n/a
16	chr13:48575280-48575330	IMR90	lung:	fetal
17	chr13:48575280-48575330	HUVEC	blood vessel:	n/a
18	chr13:48575280-48575330	PFSK-1	brain:	n/a
19	chr13:48575280-48575330	GM19239	blood:	n/a
20	chr13:48575280-48575330	RPTEC	kidney:	n/a
21	chr13:48575280-48575330	SAEC	small airway:	n/a
22	chr13:48575280-48575330	K562	blood:	n/a
23	chr13:48575280-48575330	HPAEpiC	pulmonary alveolar:	n/a
24	chr13:48575280-48575330	AG10803	skin:	n/a
25	chr13:48575280-48575330	PrEC	prostate:	n/a
26	chr13:48575280-48575330	LNCaP	prostate:	n/a
27	chr13:48575280-48575330	HCF	heart:	n/a
28	chr13:48575280-48575330	HAEpiC	amniotic membrane:	n/a
29	chr13:48575280-48575330	HNPCEpiC	eye:	n/a
30	chr13:48575280-48575330	HEK293	kidney:	embryo
31	chr13:48575280-48575330	NH-A	brain:	n/a
32	chr13:48575280-48575330	AG04450	lung:	fetal
33	chr13:48575280-48575330	PANC-1	pancreas:	n/a
34	chr13:48575280-48575330	AG09319	gingival:	n/a
35	chr13:48575280-48575330	Jurkat	blood:	n/a
36	chr13:48575280-48575330	H1-hESC	embryonic stem cell:	embryo
37	chr13:48575280-48575330	HMEC	breast:	n/a
38	chr13:48575280-48575330	CMK	blood:	n/a
39	chr13:48575280-48575330	Hela-S3	cervix:	n/a
40	chr13:48575280-48575330	HRPEpiC	eye:	n/a
41	chr13:48575280-48575330	Caco-2	colon:	n/a
42	chr13:48575280-48575330	NB4	blood:	n/a
43	chr13:48575280-48575330	AoSMC	blood vessel:	n/a
44	chr13:48575280-48575330	MCF-7	breast:	n/a
45	chr13:48575280-48575330	NT2-D1	testis:	n/a
46	chr13:48575280-48575330	HCT-116	colon:	n/a
47	chr13:48575280-48575330	ProgFib	skin:	n/a
48	chr13:48575280-48575330	SK-N-SH_RA	brain:	n/a
49	chr13:48575280-48575330	U87	brain:	n/a
50	chr13:48575280-48575330	HEEpiC	esophagus:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:48573666..48577274-chr13:48610467..48613685,4	MCF-7	breast:
2	chr13:48574996..48575645-chr17:49243449..49244132,2	HCT-116	colon:
3	chr11:62608655..62609644-chr13:48575146..48575728,2	NB4	blood:
4	chr13:48573863..48576384-chr13:48611584..48613293,2	K562	blood:

No data

Variant related genes	Relation type
SUCLA2	TF binding region
SUCLA2-AS1	TF binding region
SUCLA2	CpG island
SUCLA2-AS1	CpG island
ENSG00000133316	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000243678	Chromatin interaction
ENSG00000136159	Chromatin interaction

Extended variants
information (count: 172 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs1041070	0.82[ASN][1000 genomes]
rs1098354	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11148099	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11148100	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11618397	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11839719	0.81[ASN][1000 genomes]
rs1185727	0.87[ASN][1000 genomes]
rs12428259	0.80[ASN][1000 genomes]
rs12429137	0.84[ASN][1000 genomes]
rs12430773	0.81[ASN][1000 genomes]
rs12431098	0.81[ASN][1000 genomes]
rs12431108	0.81[ASN][1000 genomes]
rs12583188	0.82[ASN][1000 genomes]
rs1326135	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326136	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1326138	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1326139	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1326140	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1536301	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1544078	0.83[ASN][1000 genomes]
rs17071168	0.94[ASN][1000 genomes]
rs1853929	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1886975	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1886976	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1926089	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2031590	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2094194	0.81[ASN][1000 genomes]
rs2148243	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2148244	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2148245	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2182376	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296574	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406693	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2406697	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2406698	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2406699	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4245347	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4447314	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4522322	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4941619	0.80[ASN][1000 genomes]
rs4941621	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4942725	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4942726	0.82[ASN][1000 genomes]
rs4942727	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4942728	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4942729	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942730	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4942733	0.85[ASN][1000 genomes]
rs4942735	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942739	0.81[ASN][1000 genomes]
rs6561417	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6561419	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6561420	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6561424	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561427	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6561429	0.85[ASN][1000 genomes]
rs6561430	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561431	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6561432	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs718010	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7318770	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7319245	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7320366	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7320461	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7320759	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7322515	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7324541	0.82[AMR][1000 genomes]
rs7325189	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7325437	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7326889	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7326984	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7327260	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7327265	0.84[ASN][1000 genomes]
rs7327730	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7328525	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7328537	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7328549	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7329419	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7330130	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7330913	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7331285	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7332304	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7333659	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7333821	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7334207	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7335788	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7336972	0.81[ASN][1000 genomes]
rs7337004	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7337744	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338125	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7338373	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7338894	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73477056	0.85[ASN][1000 genomes]
rs73477058	0.85[ASN][1000 genomes]
rs73489242	0.81[ASN][1000 genomes]
rs73493339	0.81[ASN][1000 genomes]
rs73493351	0.81[ASN][1000 genomes]
rs73495307	0.85[ASN][1000 genomes]
rs73495326	0.85[ASN][1000 genomes]
rs765809	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7982426	0.85[ASN][1000 genomes]
rs7985357	0.85[ASN][1000 genomes]
rs7989231	0.81[ASN][1000 genomes]
rs7990244	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7990266	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7990505	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7991049	0.83[ASN][1000 genomes]
rs7994359	0.83[ASN][1000 genomes]
rs7996580	0.84[ASN][1000 genomes]
rs7997802	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7998116	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7998260	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7998497	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7998998	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7999360	0.84[ASN][1000 genomes]
rs7999505	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8000164	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8001432	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9316339	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9316343	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9316344	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9526417	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9526422	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9526423	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526424	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9526426	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526429	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526430	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9526433	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9526434	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9534876	0.83[ASN][1000 genomes]
rs9534877	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534878	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534879	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534880	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534882	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534885	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9534889	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9534892	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9534896	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9534897	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9534898	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534901	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534903	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9534904	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534905	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534906	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534907	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9534908	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534909	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9534912	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534913	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9534914	0.84[ASN][1000 genomes]
rs9534922	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9534923	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9534926	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534929	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9562787	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9567954	0.82[ASN][1000 genomes]
rs9567955	0.82[ASN][1000 genomes]
rs9567958	0.80[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9567959	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9567960	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9567963	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9567964	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9567976	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9567980	0.85[ASN][1000 genomes]
rs9567986	0.83[ASN][1000 genomes]
rs9595815	0.81[ASN][1000 genomes]
rs9595825	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9567972	SUCLA2	Cis_1M	lymphoblastoid	RTeQTL
rs9567972	MED4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48573000-48576600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr13:48573600-48576200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr13:48573800-48575600	Active TSS	Duodenum Mucosa	Duodenum
4	chr13:48573800-48576400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr13:48574000-48575600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr13:48574000-48575600	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr13:48574000-48575600	Active TSS	GM12878-XiMat	blood
8	chr13:48574000-48575600	Active TSS	K562	blood
9	chr13:48574000-48576000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:48574000-48576000	Active TSS	Psoas Muscle	Psoas
11	chr13:48574000-48576000	Active TSS	Right Atrium	heart
12	chr13:48574000-48576200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr13:48574200-48575600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:48574200-48575600	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr13:48574200-48575600	Active TSS	HMEC	breast
16	chr13:48574200-48575600	Active TSS	NHDF-Ad	bronchial
17	chr13:48574200-48575800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:48574200-48575800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr13:48574200-48575800	ZNF genes & repeats	Fetal Brain Male	brain
20	chr13:48574200-48575800	Active TSS	HSMM	muscle
21	chr13:48574200-48576000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr13:48574200-48576000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr13:48574200-48576000	Active TSS	Ovary	ovary
24	chr13:48574200-48576200	Active TSS	Fetal Brain Female	brain
25	chr13:48574200-48576200	Active TSS	A549	lung
26	chr13:48574200-48576400	Active TSS	Brain Germinal Matrix	brain
27	chr13:48574400-48575600	Active TSS	HSMMtube	muscle
28	chr13:48574400-48575600	Active TSS	NHEK	skin
29	chr13:48574400-48575800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:48574400-48575800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr13:48574400-48575800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:48574400-48575800	Active TSS	Colon Smooth Muscle	Colon
33	chr13:48574400-48575800	Active TSS	Fetal Intestine Small	intestine
34	chr13:48574400-48575800	Active TSS	Left Ventricle	heart
35	chr13:48574400-48575800	Active TSS	Right Ventricle	heart
36	chr13:48574400-48576000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr13:48574400-48576000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:48574400-48576000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr13:48574400-48576000	Active TSS	Aorta	Aorta
40	chr13:48574400-48576000	Active TSS	Esophagus	oesophagus
41	chr13:48574400-48576000	Active TSS	Fetal Muscle Trunk	muscle
42	chr13:48574400-48576200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr13:48574400-48576200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr13:48574600-48575400	Active TSS	Stomach Smooth Muscle	stomach
45	chr13:48574600-48575600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:48574600-48575600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr13:48574600-48575600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr13:48574600-48575600	Active TSS	Fetal Intestine Large	intestine
49	chr13:48574600-48575600	Active TSS	Fetal Muscle Leg	muscle
50	chr13:48574600-48575600	Active TSS	Placenta	Placenta

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