Variant report

Variant	rs2517956
Chromosome Location	chr17:37843859-37843860
allele	A/G
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	HDAC2	chr17:37843220-37844639	HepG2	liver:	n/a	chr17:37843302-37843311
2	ELF1	chr17:37843478-37844731	HepG2	liver:	n/a	chr17:37844319-37844330 chr17:37844331-37844340 chr17:37844319-37844330 chr17:37844283-37844292 chr17:37844330-37844341 chr17:37844330-37844341
3	EP300	chr17:37843825-37843907	GM12878	blood:	n/a	n/a
4	GATA3	chr17:37843670-37844808	A549	lung:	n/a	chr17:37844455-37844464
5	POLR2A	chr17:37843820-37844667	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr17:37843771-37845049	K562	blood:	n/a	n/a
7	POLR2A	chr17:37843768-37844800	PANC-1	pancreas:	n/a	n/a
8	MYBL2	chr17:37843211-37844869	HepG2	liver:	n/a	n/a
9	POLR2A	chr17:37843673-37844727	MCF10A-Er-Src	breast:	n/a	n/a
10	ARID3A	chr17:37843451-37844593	HepG2	liver:	n/a	n/a
11	CEBPD	chr17:37843839-37844583	HepG2	liver:	n/a	n/a
12	POLR2A	chr17:37843535-37844718	HepG2	liver:	n/a	n/a
13	POLR2A	chr17:37843457-37844754	HepG2	liver:	n/a	n/a
14	POLR2A	chr17:37843630-37844764	PFSK-1	brain:	n/a	n/a
15	NR2F2	chr17:37843244-37844756	K562	blood:	n/a	n/a
16	POLR2A	chr17:37843391-37844911	K562	blood:	n/a	n/a
17	ZC3H11A	chr17:37843779-37844038	K562	blood:	n/a	n/a
18	GTF2F1	chr17:37843656-37844625	Hela-S3	cervix:	n/a	n/a
19	MYBL2	chr17:37843085-37845602	HepG2	liver:	n/a	n/a
20	POLR2A	chr17:37843726-37844695	SK-N-SH	brain:	n/a	n/a
21	HNF4A	chr17:37843395-37843865	HepG2	liver:	n/a	chr17:37843631-37843643 chr17:37843630-37843645 chr17:37843630-37843645 chr17:37843631-37843639 chr17:37843629-37843644 chr17:37843631-37843643
22	GABPA	chr17:37843790-37844884	SK-N-SH	brain:	n/a	n/a
23	MAX	chr17:37843849-37844594	A549	lung:	n/a	n/a
24	POLR2A	chr17:37843718-37844692	PFSK-1	brain:	n/a	n/a
25	HNF4A	chr17:37843377-37844518	HepG2	liver:	n/a	chr17:37843631-37843643 chr17:37843630-37843645 chr17:37843630-37843645 chr17:37843631-37843639 chr17:37843629-37843644 chr17:37843631-37843643
26	CUX1	chr17:37843616-37844647	K562	blood:	n/a	n/a
27	TBL1XR1	chr17:37843850-37844017	K562	blood:	n/a	n/a
28	MYC	chr17:37843800-37844940	K562	blood:	n/a	n/a
29	MAX	chr17:37843683-37845004	A549	lung:	n/a	n/a
30	NFIC	chr17:37843217-37844700	HepG2	liver:	n/a	n/a
31	MBD4	chr17:37843361-37844095	HepG2	liver:	n/a	n/a
32	ELF1	chr17:37843795-37844786	HCT-116	colon:	n/a	chr17:37844319-37844330 chr17:37844331-37844340 chr17:37844319-37844330 chr17:37844283-37844292 chr17:37844330-37844341 chr17:37844330-37844341
33	ETS1	chr17:37843829-37844639	A549	lung:	n/a	chr17:37844319-37844328 chr17:37844333-37844343 chr17:37844288-37844299 chr17:37844331-37844340 chr17:37844317-37844327 chr17:37844328-37844344 chr17:37844332-37844341 chr17:37844319-37844328 chr17:37844332-37844341 chr17:37844332-37844341 chr17:37844319-37844335 chr17:37844332-37844341 chr17:37844329-37844342 chr17:37844332-37844341 chr17:37844332-37844341 chr17:37844329-37844344
34	EP300	chr17:37843233-37844679	HepG2	liver:	n/a	chr17:37844320-37844327 chr17:37844333-37844340
35	POLR2A	chr17:37843742-37844741	HCT-116	colon:	n/a	n/a
36	TAF1	chr17:37843857-37844772	A549	lung:	n/a	n/a
37	POLR2A	chr17:37843845-37844569	HepG2	liver:	n/a	n/a
38	SIN3A	chr17:37843820-37845672	H1-hESC	embryonic stem cell:	n/a	chr17:37845654-37845663
39	IRF1	chr17:37843659-37844649	K562	blood:	n/a	chr17:37844071-37844085 chr17:37844034-37844048 chr17:37844414-37844428 chr17:37843812-37843826 chr17:37844053-37844067
40	POLR2A	chr17:37843738-37844984	HCT-116	colon:	n/a	n/a
41	SP1	chr17:37843713-37844726	A549	lung:	n/a	chr17:37844054-37844063 chr17:37844416-37844428 chr17:37844072-37844082 chr17:37844034-37844046 chr17:37844417-37844427 chr17:37844417-37844426 chr17:37844072-37844081 chr17:37844073-37844082 chr17:37844068-37844082 chr17:37844034-37844046 chr17:37844418-37844427 chr17:37844416-37844428 chr17:37844053-37844065 chr17:37844054-37844064 chr17:37844031-37844045 chr17:37844417-37844426 chr17:37844071-37844083 chr17:37844417-37844431 chr17:37843812-37843824 chr17:37844417-37844427 chr17:37844071-37844083 chr17:37844035-37844044 chr17:37844072-37844082 chr17:37844053-37844065 chr17:37844055-37844064
42	POLR2A	chr17:37843815-37844874	MCF10A-Er-Src	breast:	n/a	n/a
43	IRF1	chr17:37843520-37844645	K562	blood:	n/a	chr17:37844071-37844085 chr17:37844034-37844048 chr17:37844414-37844428 chr17:37843812-37843826 chr17:37844053-37844067
44	YY1	chr17:37843857-37844770	SK-N-SH	brain:	n/a	chr17:37844439-37844455
45	POLR2A	chr17:37843728-37844984	HCT-116	colon:	n/a	n/a
46	ELF1	chr17:37843518-37844830	HCT-116	colon:	n/a	chr17:37844319-37844330 chr17:37844331-37844340 chr17:37844319-37844330 chr17:37844283-37844292 chr17:37844330-37844341 chr17:37844330-37844341
47	MAX	chr17:37843772-37844749	ECC-1	luminal epithelium:	n/a	n/a
48	GABPA	chr17:37843485-37845225	A549	lung:	n/a	n/a
49	POLR2A	chr17:37843834-37844677	Raji	blood:	n/a	n/a
50	MAX	chr17:37843848-37844658	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:37843818-37843868	RPTEC	kidney:	n/a
2	chr17:37843818-37843868	SKMC	muscle:	n/a
3	chr17:37843818-37843868	BE2_C	brain:	n/a
4	chr17:37843818-37843868	Hepatocyte	liver:	n/a
5	chr17:37843818-37843868	NB4	blood:	n/a
6	chr17:37843818-37843868	NHBE	bronchial:	n/a
7	chr17:37843818-37843868	AG09309	skin:	n/a
8	chr17:37843818-37843868	PFSK-1	brain:	n/a
9	chr17:37843818-37843868	HEEpiC	esophagus:	n/a
10	chr17:37843818-37843868	PrEC	prostate:	n/a
11	chr17:37843818-37843868	HAEpiC	amniotic membrane:	n/a
12	chr17:37843818-37843868	HRPEpiC	eye:	n/a
13	chr17:37843818-37843868	HPAEpiC	pulmonary alveolar:	n/a
14	chr17:37843818-37843868	HRCEpiC	kidney:	n/a
15	chr17:37843818-37843868	U87	brain:	n/a
16	chr17:37843818-37843868	GM12892	blood:	n/a
17	chr17:37843818-37843868	IMR90	lung:	fetal
18	chr17:37843818-37843868	MCF-7	breast:	n/a
19	chr17:37843818-37843868	HL-60	blood:	n/a
20	chr17:37843818-37843868	NT2-D1	testis:	n/a
21	chr17:37843818-37843868	MCF10A-Er-Src	breast:	n/a
22	chr17:37843818-37843868	Hela-S3	cervix:	n/a
23	chr17:37843818-37843868	AG04450	lung:	fetal
24	chr17:37843818-37843868	SK-N-SH	brain:	n/a
25	chr17:37843818-37843868	H1-hESC	embryonic stem cell:	embryo
26	chr17:37843818-37843868	HUVEC	blood vessel:	n/a
27	chr17:37843818-37843868	Caco-2	colon:	n/a
28	chr17:37843818-37843868	K562	blood:	n/a
29	chr17:37843818-37843868	ovcar-3	ovarian:	n/a
30	chr17:37843818-37843868	GM06990	blood:	n/a
31	chr17:37843818-37843868	T-47D	breast:	n/a
32	chr17:37843818-37843868	HepG2	liver:	n/a
33	chr17:37843818-37843868	SK-N-SH_RA	brain:	n/a
34	chr17:37843818-37843868	HCPEpiC	choroid plexus:	n/a
35	chr17:37843818-37843868	HCF	heart:	n/a
36	chr17:37843818-37843868	CMK	blood:	n/a
37	chr17:37843818-37843868	Jurkat	blood:	n/a
38	chr17:37843818-37843868	HNPCEpiC	eye:	n/a
39	chr17:37843818-37843868	NH-A	brain:	n/a
40	chr17:37843818-37843868	PANC-1	pancreas:	n/a
41	chr17:37843818-37843868	LNCaP	prostate:	n/a
42	chr17:37843818-37843868	ECC-1	luminal epithelium:	n/a
43	chr17:37843818-37843868	HCM	heart:	n/a
44	chr17:37843818-37843868	HCT-116	colon:	n/a
45	chr17:37843818-37843868	HEK293	kidney:	embryo
46	chr17:37843818-37843868	AoSMC	blood vessel:	n/a
47	chr17:37843818-37843868	ProgFib	skin:	n/a
48	chr17:37843818-37843868	AG10803	skin:	n/a
49	chr17:37843818-37843868	AG09319	gingival:	n/a
50	chr17:37843818-37843868	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37793295..37796255-chr17:37843602..37845450,3	K562	blood:
2	chr17:37842731..37844399-chr17:37894912..37896553,2	MCF-7	breast:
3	chr17:37842403..37845935-chr17:37858030..37860407,3	K562	blood:
4	chr17:37841897..37844466-chr17:37883421..37885252,2	MCF-7	breast:
5	chr17:37843552..37845628-chr17:37864708..37866273,2	K562	blood:
6	chr17:37792417..37794971-chr17:37842551..37845979,3	MCF-7	breast:
7	chr17:37841292..37844134-chr17:37885163..37888141,2	MCF-7	breast:
8	chr17:37842383..37849519-chr17:37854521..37862509,17	MCF-7	breast:
9	chr17:37842219..37845858-chr17:37884394..37886871,3	K562	blood:
10	chr17:37839939..37841946-chr17:37842551..37844356,2	K562	blood:
11	chr17:37841867..37845178-chr17:37881477..37884200,3	K562	blood:
12	chr17:37843726..37845858-chr17:37884335..37886775,2	K562	blood:
13	chr17:37843168..37845541-chr17:37863729..37866216,2	MCF-7	breast:
14	chr17:37832364..37833972-chr17:37842074..37844031,2	K562	blood:
15	chr17:37843015..37846318-chr17:37894966..37898626,3	MCF-7	breast:

Variant related genes	Relation type
PGAP3	TF binding region
ERBB2	TF binding region
ERBB2	CpG island
PGAP3	CpG island
ENSG00000131748	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000265178	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000141741	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1018246	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1053651	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs10852934	0.80[ASN][1000 genomes]
rs11651497	0.80[ASN][1000 genomes]
rs11658786	0.85[ASN][1000 genomes]
rs11869286	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs12150298	0.85[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12150603	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12940986	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs14050	0.95[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1476278	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1495099	0.81[ASN][1000 genomes]
rs1495100	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1495101	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1495102	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1565920	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1565922	0.84[ASW][hapmap];0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1565923	0.95[CEU][hapmap]
rs1810132	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs1877031	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2247862	1.00[ASW][hapmap];0.95[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2271308	0.80[CHD][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2271309	0.81[ASN][1000 genomes]
rs2313171	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2517952	0.83[ASN][1000 genomes]
rs2517953	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2517954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2517955	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2517957	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2517958	0.86[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2517959	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2517960	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2904766	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2934951	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2934952	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2934953	0.95[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2934956	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2934967	0.81[AMR][1000 genomes]
rs2934971	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes]
rs2941503	0.94[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2941504	1.00[ASW][hapmap];0.95[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2941505	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2941506	0.85[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2952151	0.94[ASW][hapmap];0.95[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2952152	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2952155	0.95[CHB][hapmap]
rs2952156	0.95[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.80[YRI][hapmap]
rs33953566	0.80[ASN][1000 genomes]
rs35734596	0.81[ASN][1000 genomes]
rs3751903	0.81[ASN][1000 genomes]
rs3764352	0.80[ASN][1000 genomes]
rs3764353	0.80[ASN][1000 genomes]
rs3817160	0.81[ASN][1000 genomes]
rs407307	0.85[ASN][1000 genomes]
rs4794817	0.81[ASN][1000 genomes]
rs4795390	0.80[ASN][1000 genomes]
rs732083	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs732084	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8077172	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8078228	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs879606	0.80[ASN][1000 genomes]
rs881844	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs903501	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs903502	0.86[CEU][hapmap];0.87[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs907087	0.83[ASW][hapmap];0.95[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs907088	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs907089	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs907090	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs907094	0.80[ASN][1000 genomes]
rs9303274	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs931992	0.80[CHD][hapmap];0.86[JPT][hapmap]
rs9675194	0.86[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9972882	0.83[ASW][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv528093	chr17:37814080-37866005	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv908214	chr17:37814224-37861833	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2517956	SLFN14	cis	parietal	SCAN
rs2517956	PGAP3	cis	Heart Left Ventricle	GTEx
rs2517956	PGAP3	cis	Muscle Skeletal	GTEx
rs2517956	PGAP3	cis	Thyroid	GTEx
rs2517956	GSDMB	cis	cerebellum	SCAN
rs2517956	SPACA3	cis	parietal	SCAN
rs2517956	ORMDL3	Cis_1M	lymphoblastoid	RTeQTL
rs2517956	DHRS11	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37832200-37844000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:37842400-37844000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:37842400-37844000	Weak transcription	Gastric	stomach
4	chr17:37843200-37844000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:37843200-37844000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr17:37843200-37844000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:37843200-37844000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr17:37843200-37844000	Flanking Active TSS	Dnd41	blood
9	chr17:37843200-37844800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:37843200-37845000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:37843400-37844000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:37843400-37844000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr17:37843400-37844000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr17:37843400-37844000	Enhancers	Primary B cells from peripheral blood	blood
15	chr17:37843400-37844000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:37843400-37844000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr17:37843400-37844000	Flanking Active TSS	Liver	Liver
18	chr17:37843400-37844000	Flanking Active TSS	Colon Smooth Muscle	Colon
19	chr17:37843400-37844000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr17:37843400-37844000	Flanking Active TSS	A549	lung
21	chr17:37843400-37844000	Flanking Active TSS	Hela-S3	cervix
22	chr17:37843400-37844600	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr17:37843400-37844800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:37843400-37845000	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr17:37843600-37844000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:37843600-37844000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:37843600-37844000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:37843600-37844000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr17:37843600-37844000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr17:37843600-37844000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr17:37843600-37844000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr17:37843600-37844000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr17:37843600-37844000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr17:37843600-37844000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr17:37843600-37844000	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr17:37843600-37844000	Flanking Active TSS	Brain Angular Gyrus	brain
37	chr17:37843600-37844000	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr17:37843600-37844000	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr17:37843600-37844000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr17:37843600-37844000	Flanking Active TSS	Fetal Heart	heart
41	chr17:37843600-37844000	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr17:37843600-37844000	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr17:37843600-37844000	Flanking Active TSS	Fetal Lung	lung
44	chr17:37843600-37844000	Flanking Active TSS	Placenta	Placenta
45	chr17:37843600-37844000	Flanking Active TSS	Fetal Stomach	stomach
46	chr17:37843600-37844000	Flanking Active TSS	Psoas Muscle	Psoas
47	chr17:37843600-37844000	Flanking Active TSS	GM12878-XiMat	blood
48	chr17:37843600-37844000	Flanking Active TSS	HSMM	muscle
49	chr17:37843600-37844000	Flanking Active TSS	NHEK	skin
50	chr17:37843600-37844000	Flanking Active TSS	Osteobl	bone

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