Variant report

Variant	rs4422957
Chromosome Location	chr1:74664149-74664150
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	EP300	chr1:74663785-74664158	GM12878	blood:	n/a	chr1:74664122-74664136
2	RAD21	chr1:74663547-74664182	H1-hESC	embryonic stem cell:	n/a	n/a
3	SPI1	chr1:74663946-74664355	HL-60	blood:	n/a	chr1:74664122-74664131 chr1:74664126-74664135 chr1:74664124-74664137 chr1:74664125-74664138
4	IRF1	chr1:74663627-74664702	K562	blood:	n/a	chr1:74663878-74663892
5	POLR2A	chr1:74663557-74664234	HCT-116	colon:	n/a	n/a
6	POLR2A	chr1:74663456-74664281	GM12878	blood:	n/a	n/a
7	MAZ	chr1:74663525-74664210	GM12878	blood:	n/a	chr1:74663877-74663887
8	YY1	chr1:74663322-74664184	SK-N-SH	brain:	n/a	chr1:74663508-74663516 chr1:74663471-74663490 chr1:74663901-74663910
9	POLR2A	chr1:74663550-74664375	HL-60	blood:	n/a	n/a
10	CTCF	chr1:74663687-74664163	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:74663520-74664172	HCT-116	colon:	n/a	n/a
12	RUNX3	chr1:74662819-74664216	GM12878	blood:	n/a	n/a
13	STAT1	chr1:74663648-74664298	GM12878	blood:	n/a	n/a
14	TAF1	chr1:74663529-74664192	SK-N-SH	brain:	n/a	n/a
15	GTF2B	chr1:74663589-74664203	K562	blood:	n/a	n/a
16	NFIC	chr1:74663727-74664290	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:74663689-74664149	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYBL2	chr1:74663489-74664214	HepG2	liver:	n/a	n/a
19	MXI1	chr1:74663574-74664251	HepG2	liver:	n/a	n/a
20	REST	chr1:74663700-74664216	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:74663510-74664282	Gliobla	brain:	n/a	n/a
22	POLR2A	chr1:74663595-74664186	SK-N-SH	brain:	n/a	n/a
23	TAF1	chr1:74663532-74664299	ECC-1	luminal epithelium:	n/a	n/a
24	EBF1	chr1:74663581-74664383	GM12878	blood:	n/a	chr1:74664065-74664076
25	SPI1	chr1:74663977-74664209	K562	blood:	n/a	chr1:74664122-74664131 chr1:74664126-74664135 chr1:74664124-74664137 chr1:74664125-74664138
26	MXI1	chr1:74663434-74664195	Hela-S3	cervix:	n/a	n/a
27	ELF1	chr1:74663662-74664240	HepG2	liver:	n/a	chr1:74663901-74663910 chr1:74664125-74664136
28	POLR2A	chr1:74663365-74664348	U87	brain:	n/a	n/a
29	PAX5	chr1:74663788-74664163	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:74663626-74664200	HepG2	liver:	n/a	n/a
31	RFX5	chr1:74663637-74664195	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:74663589-74664228	GM12891	blood:	n/a	n/a
33	TBP	chr1:74663667-74664164	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr1:74663534-74664301	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr1:74663569-74664203	GM12891	blood:	n/a	n/a
36	TAF1	chr1:74663548-74664176	K562	blood:	n/a	n/a
37	POLR2A	chr1:74662484-74665339	IMR90	lung:	n/a	n/a
38	ELF1	chr1:74663684-74664243	MCF-7	breast:	n/a	chr1:74663901-74663910 chr1:74664125-74664136
39	TAF1	chr1:74663905-74664175	GM12891	blood:	n/a	n/a
40	POLR2A	chr1:74663472-74664288	U87	brain:	n/a	n/a
41	CHD2	chr1:74663425-74664193	HepG2	liver:	n/a	n/a
42	TCF12	chr1:74663577-74664244	ECC-1	luminal epithelium:	n/a	n/a
43	TAF1	chr1:74663921-74664191	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:74663508-74664309	GM12878	blood:	n/a	n/a
45	TAF1	chr1:74663652-74664272	PFSK-1	brain:	n/a	n/a
46	CHD1	chr1:74663275-74664217	GM12878	blood:	n/a	n/a
47	SP1	chr1:74663608-74664210	A549	lung:	n/a	chr1:74663850-74663859 chr1:74663879-74663889 chr1:74663880-74663889 chr1:74663849-74663859 chr1:74664160-74664173 chr1:74663878-74663890 chr1:74663849-74663859
48	POLR2A	chr1:74663067-74664530	GM12891	blood:	n/a	n/a
49	POLR2A	chr1:74663626-74664274	GM10847	blood:	n/a	n/a
50	YY1	chr1:74663390-74664186	SK-N-SH_RA	brain:	n/a	chr1:74663508-74663516 chr1:74663471-74663490 chr1:74663901-74663910

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:74664132-74664182	NB4	blood:	n/a
2	chr1:74664132-74664182	Hela-S3	cervix:	n/a
3	chr1:74664132-74664182	CMK	blood:	n/a
4	chr1:74664132-74664182	Hepatocyte	liver:	n/a
5	chr1:74664132-74664182	SKMC	muscle:	n/a
6	chr1:74664132-74664182	BE2_C	brain:	n/a
7	chr1:74664132-74664182	HCM	heart:	n/a
8	chr1:74664132-74664182	T-47D	breast:	n/a
9	chr1:74664132-74664182	MCF-7	breast:	n/a
10	chr1:74664132-74664182	NHDF-neo	bronchial:	n/a
11	chr1:74664132-74664182	HIPEpiC	eye:	n/a
12	chr1:74664132-74664182	HEEpiC	esophagus:	n/a
13	chr1:74664132-74664182	ECC-1	luminal epithelium:	n/a
14	chr1:74664132-74664182	HNPCEpiC	eye:	n/a
15	chr1:74664132-74664182	HMEC	breast:	n/a
16	chr1:74664132-74664182	SK-N-SH_RA	brain:	n/a
17	chr1:74664132-74664182	PANC-1	pancreas:	n/a
18	chr1:74664132-74664182	GM19239	blood:	n/a
19	chr1:74664132-74664182	HCPEpiC	choroid plexus:	n/a
20	chr1:74664132-74664182	U87	brain:	n/a
21	chr1:74664132-74664182	HRCEpiC	kidney:	n/a
22	chr1:74664132-74664182	HRPEpiC	eye:	n/a
23	chr1:74664132-74664182	AG09319	gingival:	n/a
24	chr1:74664132-74664182	AG10803	skin:	n/a
25	chr1:74664132-74664182	ProgFib	skin:	n/a
26	chr1:74664132-74664182	AoSMC	blood vessel:	n/a
27	chr1:74664132-74664182	Jurkat	blood:	n/a
28	chr1:74664132-74664182	HL-60	blood:	n/a
29	chr1:74664132-74664182	GM06990	blood:	n/a
30	chr1:74664132-74664182	HepG2	liver:	n/a
31	chr1:74664132-74664182	SK-N-MC	brain:	n/a
32	chr1:74664132-74664182	ovcar-3	ovarian:	n/a
33	chr1:74664132-74664182	NH-A	brain:	n/a
34	chr1:74664132-74664182	AG04450	lung:	fetal
35	chr1:74664132-74664182	MCF10A-Er-Src	breast:	n/a
36	chr1:74664132-74664182	K562	blood:	n/a
37	chr1:74664132-74664182	PFSK-1	brain:	n/a
38	chr1:74664132-74664182	HEK293	kidney:	embryo
39	chr1:74664132-74664182	HCF	heart:	n/a
40	chr1:74664132-74664182	HPAEpiC	pulmonary alveolar:	n/a
41	chr1:74664132-74664182	IMR90	lung:	fetal
42	chr1:74664132-74664182	HUVEC	blood vessel:	n/a
43	chr1:74664132-74664182	A549	lung:	n/a
44	chr1:74664132-74664182	H1-hESC	embryonic stem cell:	embryo
45	chr1:74664132-74664182	GM12878	blood:	n/a
46	chr1:74664132-74664182	NHBE	bronchial:	n/a
47	chr1:74664132-74664182	HCT-116	colon:	n/a
48	chr1:74664132-74664182	RPTEC	kidney:	n/a
49	chr1:74664132-74664182	LNCaP	prostate:	n/a
50	chr1:74664132-74664182	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:74663942..74664482-chr7:25219741..25220347,2	NB4	blood:

Variant related genes	Relation type
LRRIQ3	TF binding region
LRRIQ3	CpG island
ENSG00000153790	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 14 )

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

rs_ID	r²[population]
rs1032082	0.87[TSI][hapmap]
rs10789387	0.83[MKK][hapmap];0.87[TSI][hapmap]
rs10789391	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10890119	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11210417	0.96[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11210418	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs11210431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11210434	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11210440	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11210441	0.99[ASN][1000 genomes]
rs11210442	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11806946	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];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134868	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12142236	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1412824	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1412825	1.00[CEU][hapmap];1.00[CHB][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]
rs1483793	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs1483795	0.87[ASW][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];0.87[TSI][hapmap];0.82[YRI][hapmap]
rs1601153	0.96[CEU][hapmap];0.91[GIH][hapmap];0.95[TSI][hapmap]
rs2343864	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs35920753	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765651	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4649996	0.96[CEU][hapmap];0.93[YRI][hapmap]
rs4650245	0.87[ASW][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap]
rs4650251	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs474215	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs476350	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs477134	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481387	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs483259	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs485929	1.00[ASN][1000 genomes]
rs487917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488813	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489941	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.87[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492302	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs495027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs496008	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500203	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs504866	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520806	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];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522042	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs522759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs524306	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs531412	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs532221	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs533371	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536355	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539534	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs542136	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545680	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs545721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553044	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs560808	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567060	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs568049	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs571848	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];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs577367	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581353	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61778032	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680375	0.80[EUR][1000 genomes]
rs7535418	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7535929	0.86[ASW][hapmap];0.93[MKK][hapmap];0.85[TSI][hapmap]
rs7550195	0.96[CEU][hapmap];1.00[YRI][hapmap]
rs792307	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs792310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs792321	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];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs813192	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9425023	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs944795	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004451	chr1:74107125-74874389	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv534999	chr1:74107125-74874389	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1013244	chr1:74441655-74680703	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv535001	chr1:74441655-74680703	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv871269	chr1:74484753-74709362	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv871381	chr1:74484753-74712181	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv871084	chr1:74492200-74681968	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv871456	chr1:74492200-74712181	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1008285	chr1:74517953-74705457	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1011308	chr1:74545016-74932777	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv871630	chr1:74578318-74709362	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv871909	chr1:74594901-74703758	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
16	nsv428785	chr1:74640545-74818577	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
17	nsv870486	chr1:74654182-74804833	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs4422957	FPGT	cis	parietal	SCAN
rs4422957	FSTL4	trans	cerebellum	SCAN
rs4422957	LRRIQ3	cis	Thyroid	GTEx
rs4422957	LRRIQ3	cis	parietal	SCAN
rs4422957	LRRC44	Cis_1M	lymphoblastoid	RTeQTL
rs4422957	TNNI3K	cis	parietal	SCAN
rs4422957	LRRIQ3	cis	Nerve Tibial	GTEx
rs4422957	FPGT	cis	Esophagus Muscularis	GTEx
rs4422957	MGC22773	cis	multi-tissue	Pritchard
rs4422957	FPGT	cis	cerebellum	SCAN
rs4422957	FPGT	cis	Muscle Skeletal	GTEx
rs4422957	FPGT	cis	Whole Blood	GTEx
rs4422957	TNNI3K	cis	cerebellum	SCAN
rs4422957	PSMD13	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74662800-74665800	Active TSS	K562	blood
2	chr1:74663000-74664400	Active TSS	Primary T cells from cord blood	blood
3	chr1:74663000-74664800	Active TSS	HMEC	breast
4	chr1:74663200-74664200	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr1:74663200-74664200	Active TSS	Brain Germinal Matrix	brain
6	chr1:74663200-74664400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:74663200-74664600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:74663200-74664600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:74663200-74664600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:74663200-74664600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:74663200-74664600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr1:74663200-74664600	Active TSS	Muscle Satellite Cultured Cells	--
13	chr1:74663200-74664600	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr1:74663200-74664600	Active TSS	Liver	Liver
15	chr1:74663200-74664600	Active TSS	Brain Angular Gyrus	brain
16	chr1:74663200-74664600	Active TSS	Brain Anterior Caudate	brain
17	chr1:74663200-74664600	Active TSS	Colon Smooth Muscle	Colon
18	chr1:74663200-74664600	Active TSS	Fetal Brain Female	brain
19	chr1:74663200-74664600	Active TSS	Fetal Intestine Small	intestine
20	chr1:74663200-74664600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:74663200-74664600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr1:74663200-74664600	Active TSS	NHEK	skin
23	chr1:74663200-74664800	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:74663200-74664800	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr1:74663200-74664800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:74663200-74664800	Active TSS	Primary T cells fromperipheralblood	blood
27	chr1:74663200-74664800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:74663200-74664800	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr1:74663200-74664800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr1:74663200-74664800	Active TSS	Fetal Kidney	kidney
31	chr1:74663200-74664800	Active TSS	Fetal Stomach	stomach
32	chr1:74663200-74664800	Active TSS	Psoas Muscle	Psoas
33	chr1:74663200-74664800	Active TSS	HSMM	muscle
34	chr1:74663200-74664800	Active TSS	HSMMtube	muscle
35	chr1:74663200-74664800	Active TSS	NH-A	brain
36	chr1:74663200-74665000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:74663200-74665000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:74663200-74665000	Active TSS	Brain Cingulate Gyrus	brain
39	chr1:74663200-74665000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:74663200-74665000	Active TSS	Brain Substantia Nigra	brain
41	chr1:74663200-74665000	Active TSS	Colonic Mucosa	Colon
42	chr1:74663200-74665000	Active TSS	Fetal Intestine Large	intestine
43	chr1:74663200-74665000	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:74663200-74665000	Active TSS	Rectal Smooth Muscle	rectum
45	chr1:74663200-74665000	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr1:74663200-74665000	Active TSS	Stomach Smooth Muscle	stomach
47	chr1:74663200-74665000	Active TSS	NHLF	lung
48	chr1:74663200-74665200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:74663200-74665400	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr1:74663200-74665400	Active TSS	Duodenum Smooth Muscle	Duodenum

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