Variant report

Variant	rs2972438
Chromosome Location	chr19:38210847-38210848
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	MAX	chr19:38210059-38210905	GM12878	blood:	n/a	n/a
2	TBP	chr19:38210484-38210925	HepG2	liver:	n/a	n/a
3	MYC	chr19:38210010-38210932	K562	blood:	n/a	n/a
4	CTCF	chr19:38210637-38210861	GM10248	blood:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
5	RCOR1	chr19:38210180-38210912	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr19:38210700-38210850	A549	lung:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
7	POLR2A	chr19:38210115-38210853	GM12891	blood:	n/a	n/a
8	TAF1	chr19:38210503-38210852	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr19:38210720-38210870	HepG2	liver:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
10	POLR2A	chr19:38210218-38210959	Hela-S3	cervix:	n/a	n/a
11	USF1	chr19:38210553-38210963	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr19:38210314-38210917	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr19:38210490-38210985	MCF-7	breast:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
14	YY1	chr19:38210496-38210931	HCT-116	colon:	n/a	n/a
15	POLR2A	chr19:38210043-38210852	GM12891	blood:	n/a	n/a
16	POLR2A	chr19:38209969-38210971	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr19:38210700-38210850	NHEK	skin:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
18	ETS1	chr19:38209883-38211026	A549	lung:	n/a	chr19:38210611-38210624 chr19:38210053-38210062
19	POLR2A	chr19:38210052-38210938	MCF-7	breast:	n/a	n/a
20	YY1	chr19:38210422-38210852	GM12878	blood:	n/a	n/a
21	MXI1	chr19:38209973-38210875	HepG2	liver:	n/a	n/a
22	MXI1	chr19:38210538-38210993	H1-hESC	embryonic stem cell:	n/a	chr19:38210869-38210884
23	MAX	chr19:38210038-38210934	Hela-S3	cervix:	n/a	n/a
24	E2F6	chr19:38210692-38210885	K562	blood:	n/a	n/a
25	CTCF	chr19:38210220-38210947	K562	blood:	n/a	chr19:38210746-38210762 chr19:38210351-38210364 chr19:38210802-38210810
26	SIN3A	chr19:38209532-38210972	H1-hESC	embryonic stem cell:	n/a	chr19:38210536-38210550 chr19:38210280-38210289
27	CTCF	chr19:38210624-38210903	H1-hESC	embryonic stem cell:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
28	POLR2A	chr19:38209954-38210968	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr19:38210168-38210890	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUND	chr19:38210087-38210924	K562	blood:	n/a	n/a
31	RFX5	chr19:38210146-38210949	HepG2	liver:	n/a	chr19:38210872-38210887
32	TFAP2C	chr19:38210058-38211002	Hela-S3	cervix:	n/a	chr19:38210708-38210723
33	CTCF	chr19:38209103-38211671	A549	lung:	n/a	chr19:38210746-38210762 chr19:38210351-38210364 chr19:38209349-38209357 chr19:38210802-38210810
34	CTCF	chr19:38210584-38210902	A549	lung:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
35	RUNX3	chr19:38209959-38210909	GM12878	blood:	n/a	n/a
36	CTCF	chr19:38210576-38210938	GM19238	blood:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
37	TAF1	chr19:38210164-38210879	A549	lung:	n/a	n/a
38	MAX	chr19:38209957-38211076	HCT-116	colon:	n/a	n/a
39	STAT3	chr19:38210749-38211031	MCF10A-Er-Src	breast:	n/a	n/a
40	CTCF	chr19:38210700-38210850	HBMEC	blood vessel:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
41	HA-E2F1	chr19:38209953-38210995	MCF-7	breast:	n/a	chr19:38210677-38210686 chr19:38210397-38210406 chr19:38210304-38210316 chr19:38210614-38210623
42	CTCF	chr19:38210590-38210879	Pancreas_OC	pancreas:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
43	POLR2A	chr19:38210080-38210968	GM19193	blood:	n/a	n/a
44	CTCF	chr19:38210623-38210875	Medullo	brain:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
45	REST	chr19:38210394-38210992	A549	lung:	n/a	chr19:38210527-38210545
46	CTCF	chr19:38210700-38210850	AG10803	skin:	n/a	chr19:38210746-38210762 chr19:38210802-38210810
47	RAD21	chr19:38210520-38210918	HepG2	liver:	n/a	n/a
48	SMC3	chr19:38209975-38210962	Hela-S3	cervix:	n/a	chr19:38210351-38210361
49	TCF12	chr19:38210724-38210975	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr19:38210544-38210860	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38210840-38210890	GM12892	blood:	n/a
2	chr19:38210837-38210887	HRPEpiC	eye:	n/a
3	chr19:38210837-38210887	HUVEC	blood vessel:	n/a
4	chr19:38210837-38210887	AoSMC	blood vessel:	n/a
5	chr19:38210840-38210890	MCF-7	breast:	n/a
6	chr19:38210840-38210890	Caco-2	colon:	n/a
7	chr19:38210840-38210890	Hela-S3	cervix:	n/a
8	chr19:38210837-38210887	SKMC	muscle:	n/a
9	chr19:38210837-38210887	Caco-2	colon:	n/a
10	chr19:38210837-38210887	SK-N-SH	brain:	n/a
11	chr19:38210840-38210890	K562	blood:	n/a
12	chr19:38210840-38210890	HAEpiC	amniotic membrane:	n/a
13	chr19:38210840-38210890	HRCEpiC	kidney:	n/a
14	chr19:38210840-38210890	H1-hESC	embryonic stem cell:	embryo
15	chr19:38210837-38210887	A549	lung:	n/a
16	chr19:38210840-38210890	AG04449	skin:	fetal
17	chr19:38210840-38210890	NT2-D1	testis:	n/a
18	chr19:38210837-38210887	HEK293	kidney:	embryo
19	chr19:38210837-38210887	AG09309	skin:	n/a
20	chr19:38210840-38210890	HCPEpiC	choroid plexus:	n/a
21	chr19:38210837-38210887	HL-60	blood:	n/a
22	chr19:38210840-38210890	CMK	blood:	n/a
23	chr19:38210837-38210887	AG09319	gingival:	n/a
24	chr19:38210840-38210890	Jurkat	blood:	n/a
25	chr19:38210840-38210890	SKMC	muscle:	n/a
26	chr19:38210837-38210887	GM12878	blood:	n/a
27	chr19:38210837-38210887	HRE	kidney:	n/a
28	chr19:38210837-38210887	U87	brain:	n/a
29	chr19:38210840-38210890	HNPCEpiC	eye:	n/a
30	chr19:38210837-38210887	MCF-7	breast:	n/a
31	chr19:38210837-38210887	Hepatocyte	liver:	n/a
32	chr19:38210840-38210890	ProgFib	skin:	n/a
33	chr19:38210840-38210890	HCT-116	colon:	n/a
34	chr19:38210837-38210887	HAEpiC	amniotic membrane:	n/a
35	chr19:38210837-38210887	AG10803	skin:	n/a
36	chr19:38210837-38210887	HCT-116	colon:	n/a
37	chr19:38210837-38210887	MCF10A-Er-Src	breast:	n/a
38	chr19:38210840-38210890	HL-60	blood:	n/a
39	chr19:38210840-38210890	IMR90	lung:	fetal
40	chr19:38210840-38210890	PrEC	prostate:	n/a
41	chr19:38210840-38210890	Hepatocyte	liver:	n/a
42	chr19:38210840-38210890	BJ	skin:	n/a
43	chr19:38210837-38210887	NHBE	bronchial:	n/a
44	chr19:38210840-38210890	T-47D	breast:	n/a
45	chr19:38210837-38210887	NT2-D1	testis:	n/a
46	chr19:38210837-38210887	HMEC	breast:	n/a
47	chr19:38210837-38210887	RPTEC	kidney:	n/a
48	chr19:38210837-38210887	PFSK-1	brain:	n/a
49	chr19:38210840-38210890	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:38210840-38210890	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37996176..37999146-chr19:38209174..38211289,2	MCF-7	breast:
2	chr19:38083812..38086216-chr19:38209948..38211806,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267552	TF binding region
ZNF607	TF binding region
ZNF607	CpG island
ENSG00000267552	CpG island
ENSG00000266916	Chromatin interaction
ENSG00000180479	Chromatin interaction
ENSG00000188227	Chromatin interaction
ENSG00000171817	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10048511	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10402671	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10403173	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap]
rs10404031	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap]
rs10404567	0.83[ASW][hapmap];1.00[CEU][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap]
rs10406379	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap]
rs10408619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs10409402	0.83[ASN][1000 genomes]
rs10409487	0.83[ASN][1000 genomes]
rs10409605	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10417576	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10420746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11083432	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes]
rs1119229	0.88[CEU][hapmap]
rs11673023	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1291	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12974225	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12979640	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.89[MEX][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13744	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap]
rs1531549	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1564208	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.86[YRI][hapmap]
rs16958861	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16958863	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs171376	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1974714	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1975937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2075281	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs2075284	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2279148	0.95[CHB][hapmap]
rs2279149	0.88[ASW][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap]
rs2287229	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291002	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.94[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap]
rs241932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs241933	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs241950	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2909085	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2909088	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2909093	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2909098	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2909100	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2909102	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2909105	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2909109	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2927739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2927740	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2927742	0.82[ASN][1000 genomes]
rs2927746	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2927747	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972430	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972434	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972437	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972439	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972445	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972446	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2972448	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2972452	0.81[ASN][1000 genomes]
rs2972458	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3095724	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3095726	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3101746	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3101747	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3112433	0.84[ASN][1000 genomes]
rs3112434	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35863684	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3786869	0.87[CEU][hapmap]
rs3829688	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap]
rs4239516	0.87[CEU][hapmap]
rs4802024	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap]
rs4802029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4802135	0.86[CHB][hapmap]
rs4803262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4803509	0.83[ASN][1000 genomes]
rs4803524	1.00[CEU][hapmap];0.81[CHB][hapmap];0.91[GIH][hapmap];0.96[TSI][hapmap]
rs4803551	0.88[CEU][hapmap]
rs56151076	0.88[ASN][1000 genomes]
rs56317671	0.83[EUR][1000 genomes]
rs62108337	0.81[EUR][1000 genomes]
rs6508736	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap]
rs6508742	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8102579	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap]
rs8103633	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8103647	0.85[EUR][1000 genomes]
rs8109038	0.82[ASW][hapmap];0.81[LWK][hapmap]
rs8112706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs856300	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs856304	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9304569	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs954504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs958305	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs968073	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9749368	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2972438	PHLDB3	cis	cerebellum	SCAN
rs2972438	CBLC	cis	parietal	SCAN
rs2972438	PHLDB3	cis	parietal	SCAN
rs2972438	PAFAH1B3	cis	cerebellum	SCAN
rs2972438	DMPK	cis	parietal	SCAN
rs2972438	HIPK4	cis	cerebellum	SCAN
rs2972438	ZNF571	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38208800-38211000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:38208800-38211000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr19:38208800-38211000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr19:38208800-38211200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:38209000-38211000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:38209000-38211000	Active TSS	Fetal Intestine Large	intestine
7	chr19:38209200-38211000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:38209200-38211000	Active TSS	NHLF	lung
9	chr19:38209200-38211200	ZNF genes & repeats	Liver	Liver
10	chr19:38209400-38211000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr19:38209400-38211000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:38209400-38211000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr19:38209400-38211000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr19:38209400-38211000	Active TSS	Fetal Heart	heart
15	chr19:38209400-38211000	Active TSS	HSMM	muscle
16	chr19:38209600-38211000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr19:38209600-38211000	Active TSS	Fetal Kidney	kidney
18	chr19:38209600-38211000	Active TSS	Ovary	ovary
19	chr19:38209600-38211000	Active TSS	Psoas Muscle	Psoas
20	chr19:38209600-38211000	Active TSS	NHDF-Ad	bronchial
21	chr19:38209800-38211000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:38209800-38211000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:38209800-38211000	Active TSS	Aorta	Aorta
24	chr19:38209800-38211000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:38209800-38211000	Active TSS	Esophagus	oesophagus
26	chr19:38209800-38211000	Active TSS	Lung	lung
27	chr19:38209800-38211000	Active TSS	Placenta Amnion	Placenta Amnion
28	chr19:38209800-38211000	Active TSS	Right Atrium	heart
29	chr19:38209800-38211000	Active TSS	HSMMtube	muscle
30	chr19:38209800-38211200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:38209800-38211200	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr19:38209800-38211200	Active TSS	Stomach Smooth Muscle	stomach
33	chr19:38210000-38211000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:38210000-38211000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr19:38210000-38211000	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr19:38210000-38211000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr19:38210000-38211000	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr19:38210000-38211000	Active TSS	Brain Germinal Matrix	brain
39	chr19:38210000-38211000	Active TSS	Brain Hippocampus Middle	brain
40	chr19:38210000-38211000	Active TSS	Brain Substantia Nigra	brain
41	chr19:38210000-38211000	Active TSS	Colon Smooth Muscle	Colon
42	chr19:38210000-38211000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr19:38210000-38211000	Active TSS	Fetal Stomach	stomach
44	chr19:38210000-38211000	Active TSS	Gastric	stomach
45	chr19:38210000-38211000	Active TSS	Spleen	Spleen
46	chr19:38210000-38211200	Active TSS	Brain Anterior Caudate	brain
47	chr19:38210000-38211200	Active TSS	Brain Cingulate Gyrus	brain
48	chr19:38210000-38211200	Active TSS	Fetal Brain Female	brain
49	chr19:38210000-38211200	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr19:38210000-38211200	Active TSS	A549	lung

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