Variant report

Variant	rs8009599
Chromosome Location	chr14:24423666-24423667
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	CTCF	chr14:24423152-24423678	MCF-7	breast:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
2	HCFC1	chr14:24422696-24423760	Hela-S3	cervix:	n/a	n/a
3	SP2	chr14:24422972-24423689	HepG2	liver:	n/a	n/a
4	MBD4	chr14:24422642-24423826	HepG2	liver:	n/a	n/a
5	TEAD4	chr14:24422372-24423865	HepG2	liver:	n/a	n/a
6	MYBL2	chr14:24422368-24423806	HepG2	liver:	n/a	n/a
7	MYBL2	chr14:24422110-24423826	HepG2	liver:	n/a	n/a
8	SP2	chr14:24422864-24423734	HepG2	liver:	n/a	n/a
9	CTCF	chr14:24423006-24423672	MCF-7	breast:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
10	MAZ	chr14:24422582-24423667	IMR90	lung:	n/a	chr14:24423255-24423268 chr14:24423256-24423267 chr14:24423257-24423267 chr14:24423257-24423266 chr14:24423256-24423266 chr14:24423258-24423267 chr14:24423256-24423266 chr14:24423257-24423266 chr14:24423256-24423267 chr14:24423257-24423266 chr14:24423255-24423268 chr14:24423256-24423267 chr14:24423252-24423271 chr14:24423256-24423267 chr14:24423255-24423268 chr14:24423257-24423267
11	POLR2A	chr14:24422112-24423712	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr14:24422723-24423866	A549	lung:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
13	MXI1	chr14:24422437-24423693	IMR90	lung:	n/a	chr14:24423256-24423265 chr14:24423258-24423267
14	RAD21	chr14:24423143-24423670	ECC-1	luminal epithelium:	n/a	chr14:24423408-24423427
15	TCF12	chr14:24422728-24423702	A549	lung:	n/a	n/a
16	RAD21	chr14:24423134-24423670	A549	lung:	n/a	chr14:24423408-24423427
17	CTCF	chr14:24422642-24423740	SK-N-SH	brain:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
18	MTA3	chr14:24422698-24423672	GM12878	blood:	n/a	n/a
19	FOXM1	chr14:24422854-24423760	GM12878	blood:	n/a	n/a
20	CTCF	chr14:24423633-24423714	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:24422497-24423692	HUVEC	blood vessel:	n/a	n/a
22	MXI1	chr14:24422274-24423831	SK-N-SH	brain:	n/a	chr14:24423256-24423265 chr14:24423258-24423267
23	STAT5A	chr14:24422837-24423694	GM12878	blood:	n/a	n/a
24	MYC	chr14:24423243-24423721	MCF10A-Er-Src	breast:	n/a	chr14:24423255-24423268 chr14:24423256-24423267 chr14:24423257-24423267 chr14:24423257-24423266 chr14:24423256-24423266 chr14:24423258-24423267 chr14:24423256-24423266 chr14:24423257-24423266 chr14:24423256-24423267 chr14:24423257-24423266 chr14:24423255-24423268 chr14:24423256-24423267 chr14:24423252-24423271 chr14:24423256-24423267 chr14:24423255-24423268 chr14:24423257-24423267
25	POLR2A	chr14:24422574-24423752	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr14:24423167-24423688	A549	lung:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
27	CTCF	chr14:24423183-24423674	K562	blood:	n/a	chr14:24423405-24423426 chr14:24423411-24423427 chr14:24423410-24423428
28	CEBPB	chr14:24423180-24423697	A549	lung:	n/a	chr14:24423462-24423473
29	NFIC	chr14:24422658-24423681	HepG2	liver:	n/a	n/a
30	RAD21	chr14:24422614-24423696	MCF-7	breast:	n/a	chr14:24422737-24422747 chr14:24423408-24423427
31	ELF1	chr14:24422626-24423749	HepG2	liver:	n/a	n/a
32	REST	chr14:24422464-24423670	H1-neurons	neurons:	n/a	chr14:24422895-24422908
33	MAFK	chr14:24423658-24423847	HepG2	liver:	n/a	n/a
34	MAX	chr14:24422677-24423682	A549	lung:	n/a	chr14:24423255-24423268 chr14:24423256-24423267 chr14:24423257-24423267 chr14:24423257-24423266 chr14:24423256-24423266 chr14:24423258-24423267 chr14:24423256-24423266 chr14:24423257-24423266 chr14:24423256-24423267 chr14:24423257-24423266 chr14:24423255-24423268 chr14:24423256-24423267 chr14:24423252-24423271 chr14:24423256-24423267 chr14:24423255-24423268 chr14:24423257-24423267
35	RAD21	chr14:24423107-24423728	HepG2	liver:	n/a	chr14:24423408-24423427
36	RAD21	chr14:24423093-24423706	MCF-7	breast:	n/a	chr14:24423408-24423427

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24423618-24423668	K562	blood:	n/a
2	chr14:24423618-24423668	GM12891	blood:	n/a
3	chr14:24423618-24423668	GM12878	blood:	n/a
4	chr14:24423618-24423668	AG09309	skin:	n/a
5	chr14:24423618-24423668	MCF-7	breast:	n/a
6	chr14:24423618-24423668	Hela-S3	cervix:	n/a
7	chr14:24423618-24423668	LNCaP	prostate:	n/a
8	chr14:24423618-24423668	HCF	heart:	n/a
9	chr14:24423618-24423668	A549	lung:	n/a
10	chr14:24423618-24423668	HL-60	blood:	n/a
11	chr14:24423618-24423668	H1-hESC	embryonic stem cell:	embryo
12	chr14:24423618-24423668	HepG2	liver:	n/a
13	chr14:24423618-24423668	GM12892	blood:	n/a
14	chr14:24423618-24423668	ECC-1	luminal epithelium:	n/a
15	chr14:24423618-24423668	Caco-2	colon:	n/a
16	chr14:24423618-24423668	AG10803	skin:	n/a
17	chr14:24423618-24423668	PrEC	prostate:	n/a
18	chr14:24423618-24423668	HRE	kidney:	n/a
19	chr14:24423618-24423668	CMK	blood:	n/a
20	chr14:24423618-24423668	HPAEpiC	pulmonary alveolar:	n/a
21	chr14:24423618-24423668	BE2_C	brain:	n/a
22	chr14:24423618-24423668	HCM	heart:	n/a
23	chr14:24423618-24423668	SKMC	muscle:	n/a
24	chr14:24423618-24423668	Hepatocyte	liver:	n/a
25	chr14:24423618-24423668	SK-N-SH	brain:	n/a
26	chr14:24423618-24423668	NB4	blood:	n/a
27	chr14:24423618-24423668	AoSMC	blood vessel:	n/a
28	chr14:24423618-24423668	MCF10A-Er-Src	breast:	n/a
29	chr14:24423618-24423668	IMR90	lung:	fetal
30	chr14:24423618-24423668	SAEC	small airway:	n/a
31	chr14:24423618-24423668	AG04449	skin:	fetal
32	chr14:24423618-24423668	NHBE	bronchial:	n/a
33	chr14:24423618-24423668	AG09319	gingival:	n/a
34	chr14:24423618-24423668	HEEpiC	esophagus:	n/a
35	chr14:24423618-24423668	NT2-D1	testis:	n/a
36	chr14:24423618-24423668	RPTEC	kidney:	n/a
37	chr14:24423618-24423668	ovcar-3	ovarian:	n/a
38	chr14:24423618-24423668	PANC-1	pancreas:	n/a
39	chr14:24423618-24423668	HRCEpiC	kidney:	n/a
40	chr14:24423618-24423668	Jurkat	blood:	n/a
41	chr14:24423618-24423668	ProgFib	skin:	n/a
42	chr14:24423618-24423668	SK-N-SH_RA	brain:	n/a
43	chr14:24423618-24423668	HAEpiC	amniotic membrane:	n/a
44	chr14:24423618-24423668	NH-A	brain:	n/a
45	chr14:24423618-24423668	HCT-116	colon:	n/a
46	chr14:24423618-24423668	HNPCEpiC	eye:	n/a
47	chr14:24423618-24423668	T-47D	breast:	n/a
48	chr14:24423618-24423668	PFSK-1	brain:	n/a
49	chr14:24423618-24423668	U87	brain:	n/a
50	chr14:24423618-24423668	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24197895..24200996-chr14:24421897..24424681,3	MCF-7	breast:
2	chr14:24036767..24038500-chr14:24420729..24424068,4	MCF-7	breast:
3	chr14:24421741..24423927-chr14:24582561..24584260,2	K562	blood:
4	chr14:24422701..24424551-chr14:24504249..24506129,2	MCF-7	breast:
5	chr1:186344468..186345047-chr14:24423051..24423847,2	MCF-7	breast:
6	chr14:24422915..24424427-chr14:24563237..24565374,2	MCF-7	breast:

Variant related genes	Relation type
DHRS4-AS1	TF binding region
DHRS4-AS1	CpG island
ENSG00000100889	Chromatin interaction
ENSG00000258464	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000213983	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000157181	Chromatin interaction
ENSG00000047410	Chromatin interaction
ENSG00000225766	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10137990	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137992	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141091	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142568	1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145440	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148822	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148823	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149094	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150939	1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151793	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158470	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847840	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852080	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852089	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147221	1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17099424	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17099455	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1885809	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1885810	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951736	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951737	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1957678	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2273944	0.84[AMR][1000 genomes]
rs28670278	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28693392	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28828113	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28836502	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28856896	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28881586	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984817	1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35687405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4048603	0.82[AMR][1000 genomes]
rs4457918	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897938	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56861678	0.89[ASN][1000 genomes]
rs57461315	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57901513	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57978986	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58329055	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58786866	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58909995	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58920623	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58941536	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59434518	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59484581	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60177702	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60887662	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60901156	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60914253	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60939040	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61368402	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573469	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573470	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573471	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573472	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573473	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573474	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573484	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573485	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573486	1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573487	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573488	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7140888	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141234	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141463	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141633	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141804	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149475	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152712	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152902	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7153995	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154783	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7156226	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7156624	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158222	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598764	1.00[ASN][1000 genomes]
rs73598777	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73598781	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600716	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600717	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73600730	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74036725	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74036727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74036728	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74036729	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003491	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003627	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004361	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004860	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009022	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009382	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010151	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011236	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323424	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323425	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323426	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323428	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9671445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671588	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671870	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671883	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805882	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805889	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9805913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806029	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1217	chr14:24400565-24512689	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv89	chr14:24405198-24475213	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
6	nsv564046	chr14:24412772-24480333	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1036970	chr14:24414285-24461842	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	14 gene(s)	inside rSNPs	diseases
8	nsv1045802	chr14:24414285-24484459	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1039814	chr14:24414285-24489426	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1047294	chr14:24414285-24500633	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1039694	chr14:24414285-24500989	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv3310704	chr14:24420176-24454755	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv3310705	chr14:24420176-24454755	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	esv9830	chr14:24420325-24423668	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv976811	chr14:24421381-24470070	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	esv2761633	chr14:24423582-24513917	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs8009599	DHRS4-AS1	cis	Thyroid	GTEx
rs8009599	DHRS4L2	cis	Nerve Tibial	GTEx
rs8009599	DHRS4	cis	Nerve Tibial	GTEx
rs8009599	DHRS4L2	cis	Adipose Subcutaneous	GTEx
rs8009599	DHRS4L2	cis	Artery Aorta	GTEx
rs8009599	DHRS4L2	cis	multi-tissue	Pritchard
rs8009599	DHRS4-AS1	cis	Artery Tibial	GTEx
rs8009599	DHRS4-AS1	cis	Nerve Tibial	GTEx
rs8009599	DHRS4	cis	Artery Tibial	GTEx
rs8009599	DHRS4-AS1	cis	lung	GTEx
rs8009599	DHRS4L2	cis	Artery Tibial	GTEx
rs8009599	DHRS4L2	cis	Esophagus Muscularis	GTEx
rs8009599	DHRS4-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs8009599	DHRS4-AS1	cis	Artery Aorta	GTEx
rs8009599	DHRS4-AS1	cis	Whole Blood	GTEx
rs8009599	DHRS4-AS1	cis	Esophagus Muscularis	GTEx
rs8009599	DHRS4	cis	Muscle Skeletal	GTEx
rs8009599	DHRS4-AS1	cis	Adipose Subcutaneous	GTEx
rs8009599	DHRS4-AS1	cis	Stomach	GTEx
rs8009599	DHRS4L2	cis	Muscle Skeletal	GTEx
rs8009599	DHRS4-AS1	cis	Esophagus Mucosa	GTEx
rs8009599	DHRS4L2	cis	Heart Left Ventricle	GTEx
rs8009599	DHRS4	cis	Artery Aorta	GTEx
rs8009599	DHRS4	cis	Adipose Subcutaneous	GTEx
rs8009599	C14orf167	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24421000-24423800	Active TSS	K562	blood
2	chr14:24421200-24423800	Active TSS	Fetal Kidney	kidney
3	chr14:24421600-24424200	Active TSS	Duodenum Mucosa	Duodenum
4	chr14:24421800-24423800	Active TSS	GM12878-XiMat	blood
5	chr14:24421800-24424200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr14:24422000-24423800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr14:24422200-24423800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:24422200-24423800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:24422200-24423800	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr14:24422200-24423800	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr14:24422200-24423800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:24422200-24423800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:24422200-24423800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:24422200-24423800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:24422200-24423800	Active TSS	Brain Germinal Matrix	brain
16	chr14:24422200-24423800	Active TSS	A549	lung
17	chr14:24422200-24423800	Active TSS	HMEC	breast
18	chr14:24422200-24423800	Active TSS	HSMM	muscle
19	chr14:24422200-24424000	Active TSS	NHLF	lung
20	chr14:24422200-24424200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:24422400-24423800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:24422400-24423800	Active TSS	Aorta	Aorta
23	chr14:24422400-24423800	Active TSS	NH-A	brain
24	chr14:24422400-24424000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:24422600-24423800	Active TSS	Fetal Intestine Large	intestine
26	chr14:24422600-24423800	Active TSS	Fetal Intestine Small	intestine
27	chr14:24422600-24423800	Active TSS	Left Ventricle	heart
28	chr14:24422600-24423800	Active TSS	Right Atrium	heart
29	chr14:24422600-24423800	Active TSS	Right Ventricle	heart
30	chr14:24422600-24423800	Active TSS	NHDF-Ad	bronchial
31	chr14:24422600-24424000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:24422600-24424200	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr14:24422800-24423800	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr14:24422800-24423800	Active TSS	Fetal Muscle Trunk	muscle
35	chr14:24423000-24424400	Active TSS	Fetal Brain Female	brain
36	chr14:24423200-24423800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:24423200-24424000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr14:24423200-24424000	Flanking Active TSS	Dnd41	blood
39	chr14:24423200-24424200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr14:24423400-24423800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:24423400-24423800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:24423400-24423800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:24423400-24423800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr14:24423400-24423800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr14:24423400-24423800	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr14:24423400-24423800	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr14:24423400-24423800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr14:24423400-24423800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:24423400-24423800	Weak transcription	Esophagus	oesophagus
50	chr14:24423400-24423800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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