Variant report

Variant	rs3219463
Chromosome Location	chr1:45806432-45806433
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	MAX	chr1:45805145-45806839	SK-N-SH	brain:	n/a	chr1:45806603-45806610 chr1:45806601-45806611 chr1:45806602-45806611
2	E2F4	chr1:45805295-45806763	K562	blood:	n/a	chr1:45805613-45805624 chr1:45805645-45805656
3	POLR2A	chr1:45806429-45807005	HCT-116	colon:	n/a	n/a
4	MYC	chr1:45805255-45806836	NB4	blood:	n/a	chr1:45806603-45806610 chr1:45806601-45806611 chr1:45806602-45806611
5	MAX	chr1:45805162-45806860	A549	lung:	n/a	chr1:45806603-45806610 chr1:45806601-45806611 chr1:45806602-45806611
6	POLR2A	chr1:45804988-45807136	PANC-1	pancreas:	n/a	n/a
7	HCFC1	chr1:45805401-45806851	K562	blood:	n/a	n/a
8	POLR2A	chr1:45806423-45807040	K562	blood:	n/a	n/a
9	POLR2A	chr1:45806360-45807221	GM12891	blood:	n/a	n/a
10	MYC	chr1:45805398-45806738	K562	blood:	n/a	chr1:45806603-45806610 chr1:45806601-45806611 chr1:45806602-45806611
11	MAX	chr1:45805760-45806787	H1-hESC	embryonic stem cell:	n/a	chr1:45806603-45806610 chr1:45806601-45806611 chr1:45806602-45806611
12	KAP1	chr1:45805306-45806942	HEK293	kidney:	n/a	n/a
13	POLR2A	chr1:45805317-45807301	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr1:45805094-45807539	K562	blood:	n/a	n/a
15	MXI1	chr1:45805107-45807025	IMR90	lung:	n/a	chr1:45806909-45806918 chr1:45806604-45806613
16	POLR2A	chr1:45805000-45807472	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:45804904-45806516	PFSK-1	brain:	n/a	n/a
18	MYC	chr1:45805538-45806634	MCF10A-Er-Src	breast:	n/a	chr1:45806603-45806610 chr1:45806601-45806611 chr1:45806602-45806611
19	CREB1	chr1:45805111-45806669	GM12878	blood:	n/a	n/a
20	MYC	chr1:45805195-45806760	MCF10A-Er-Src	breast:	n/a	chr1:45806603-45806610 chr1:45806601-45806611 chr1:45806602-45806611
21	POLR2A	chr1:45805409-45807299	K562	blood:	n/a	n/a
22	POLR2A	chr1:45804605-45806899	HepG2	liver:	n/a	n/a
23	POLR2A	chr1:45805081-45806768	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr1:45805129-45806883	GM12891	blood:	n/a	n/a
25	POLR2A	chr1:45805001-45807299	GM12891	blood:	n/a	n/a
26	GABPA	chr1:45805311-45806593	MCF-7	breast:	n/a	n/a
27	STAT3	chr1:45806430-45806794	GM12878	blood:	n/a	n/a
28	MAX	chr1:45805441-45806830	K562	blood:	n/a	chr1:45806603-45806610 chr1:45806601-45806611 chr1:45806602-45806611
29	TCF12	chr1:45805194-45806907	A549	lung:	n/a	n/a
30	ZNF143	chr1:45805402-45806807	GM12878	blood:	n/a	n/a
31	GTF2F1	chr1:45805269-45806765	Hela-S3	cervix:	n/a	n/a
32	CREB1	chr1:45805459-45807026	K562	blood:	n/a	n/a
33	SIN3A	chr1:45805177-45806676	H1-hESC	embryonic stem cell:	n/a	n/a
34	PML	chr1:45805125-45806480	K562	blood:	n/a	n/a
35	POLR2A	chr1:45804921-45807292	K562	blood:	n/a	n/a
36	TBL1XR1	chr1:45805455-45806842	K562	blood:	n/a	n/a
37	ATF2	chr1:45805452-45806432	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:45805139-45807019	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr1:45805255-45806946	Hela-S3	cervix:	n/a	n/a
40	SIN3AK20	chr1:45805048-45806462	MCF-7	breast:	n/a	n/a
41	MYC	chr1:45805446-45806856	K562	blood:	n/a	chr1:45806603-45806610 chr1:45806601-45806611 chr1:45806602-45806611
42	RELA	chr1:45805188-45806863	GM15510	blood:	n/a	n/a
43	POLR2A	chr1:45805093-45806737	SK-N-SH	brain:	n/a	n/a
44	MXI1	chr1:45805195-45806604	HepG2	liver:	n/a	n/a
45	MAX	chr1:45805169-45807308	K562	blood:	n/a	chr1:45806603-45806610 chr1:45806601-45806611 chr1:45806602-45806611
46	POLR2A	chr1:45805239-45806622	NB4	blood:	n/a	n/a
47	YY1	chr1:45805281-45806854	K562	blood:	n/a	n/a
48	ZNF263	chr1:45805263-45806996	HEK293-T-REx	kidney:	n/a	n/a
49	MYC	chr1:45805363-45806817	K562	blood:	n/a	chr1:45806603-45806610 chr1:45806601-45806611 chr1:45806602-45806611
50	HEY1	chr1:45805022-45807327	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45245131..45247941-chr1:45805894..45808200,2	K562	blood:
2	chr1:45804114..45807301-chr1:45961577..45967419,8	K562	blood:
3	chr1:45240326..45242675-chr1:45804232..45807042,4	K562	blood:
4	chr1:45804471..45806506-chr1:45965051..45967533,2	K562	blood:
5	chr1:45282552..45287322-chr1:45800975..45809178,15	K562	blood:
6	chr1:45805846..45806494-chr1:149857873..149858744,2	HCT-116	colon:
7	chr1:45803780..45809046-chr1:46047811..46052394,14	K562	blood:
8	chr1:45804762..45807081-chr1:45985847..45987732,3	K562	blood:
9	chr1:45283441..45287322-chr1:45806283..45809735,5	K562	blood:
10	chr1:45185285..45189072-chr1:45803209..45809453,10	K562	blood:
11	chr1:45804320..45807297-chr1:46151085..46154859,4	K562	blood:
12	chr1:45803780..45808811-chr1:46047553..46051220,11	K562	blood:
13	chr1:45184864..45189212-chr1:45804136..45808316,8	K562	blood:
14	chr1:45475963..45478525-chr1:45804448..45806898,2	MCF-7	breast:
15	chr1:45804942..45806889-chr1:45955165..45957556,2	K562	blood:
16	chr1:45195832..45196931-chr1:45805652..45806681,3	Hela-S3	cervix:
17	chr1:45272160..45275293-chr1:45804757..45807253,3	K562	blood:
18	chr1:45767877..45774853-chr1:45802459..45807372,12	K562	blood:
19	chr1:45476853..45482658-chr1:45802506..45807966,11	K562	blood:
20	chr1:45805652..45808329-chr1:45985496..45987569,2	K562	blood:
21	chr1:45805140..45807328-chr1:45987853..45992059,3	K562	blood:
22	chr1:45794537..45798205-chr1:45802201..45806836,5	MCF-7	breast:
23	chr1:45805607..45806604-chr5:78531864..78532398,2	Hela-S3	cervix:
24	chr1:45804236..45806527-chr1:45955097..45957372,3	MCF-7	breast:
25	chr1:45194787..45197009-chr1:45805611..45808226,3	K562	blood:
26	chr1:45239877..45242890-chr1:45804203..45807042,4	K562	blood:
27	chr1:45476210..45477994-chr1:45804757..45807098,3	MCF-7	breast:
28	chr1:45498340..45501082-chr1:45804198..45806724,3	K562	blood:
29	chr1:45805983..45807549-chr1:45973532..45975768,2	K562	blood:
30	chr1:45804838..45807307-chr1:46034691..46038164,3	K562	blood:
31	chr1:45806085..45807923-chr1:45963911..45966246,2	MCF-7	breast:
32	chr1:45195509..45198075-chr1:45804039..45807111,4	K562	blood:

Variant related genes	Relation type
TOE1	TF binding region
MUTYH	TF binding region
ENSG00000159596	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000188396	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000152409	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000234093	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000070759	Chromatin interaction
ENSG00000264650	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000236624	Chromatin interaction
ENSG00000200169	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1006216	0.91[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1007858	0.81[EUR][1000 genomes]
rs1084166	0.80[EUR][1000 genomes]
rs10890327	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10890330	0.86[CEU][hapmap];0.95[CHB][hapmap]
rs11211101	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11211108	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11211111	0.91[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11211117	0.83[EUR][1000 genomes]
rs11211118	0.83[EUR][1000 genomes]
rs11211124	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs12029322	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs12037201	0.82[EUR][1000 genomes]
rs12037411	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12046816	0.90[CEU][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12097497	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12410493	0.84[EUR][1000 genomes]
rs1417578	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1494812	0.89[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1538969	0.82[EUR][1000 genomes]
rs1538970	0.84[EUR][1000 genomes]
rs17395553	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1771551	0.86[CEU][hapmap];0.80[GIH][hapmap];0.83[EUR][1000 genomes]
rs1826691	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2050884	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2055145	0.86[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap]
rs2088100	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2153607	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2153608	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2153609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2185549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2298018	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2487442	0.95[CEU][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs2492836	0.81[EUR][1000 genomes]
rs2492840	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28555082	0.83[EUR][1000 genomes]
rs3219472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3219489	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3790582	0.91[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4520450	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap]
rs4633317	0.82[CHB][hapmap]
rs4660301	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4660849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4660851	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4660852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4660853	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4660854	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4660855	0.84[EUR][1000 genomes]
rs4660858	0.91[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.83[EUR][1000 genomes]
rs4660863	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs61788261	0.85[EUR][1000 genomes]
rs61788281	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61791362	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61791368	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61791369	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6657284	0.91[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap]
rs713358	0.82[CHB][hapmap]
rs72686460	0.82[EUR][1000 genomes]
rs7417107	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7525849	0.84[EUR][1000 genomes]
rs7528573	0.83[EUR][1000 genomes]
rs7531253	0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7532762	0.95[CEU][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes]
rs7536135	0.84[EUR][1000 genomes]
rs7543428	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7544178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7553318	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs781226	0.86[CEU][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.85[EUR][1000 genomes]
rs781230	0.83[EUR][1000 genomes]
rs781232	0.86[CEU][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];0.83[EUR][1000 genomes]
rs884962	0.95[CEU][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9326141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9429072	1.00[CEU][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9429073	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9429074	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9429076	1.00[CEU][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9429158	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9429159	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9429160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9429161	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv2750837	chr1:45796115-45908263	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3219463	MMACHC	cis	multi-tissue	Pritchard
rs3219463	MUTYH	Cis_1M	lymphoblastoid	RTeQTL
rs3219463	IPP	cis	lymphoblastoid	seeQTL
rs3219463	SPATA19	trans	parietal	SCAN
rs3219463	ST3GAL3	cis	parietal	SCAN
rs3219463	CYP4B1	cis	cerebellum	SCAN
rs3219463	MAST2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45804400-45806600	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr1:45804400-45806600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:45804600-45806600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:45804600-45806600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr1:45804600-45806600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:45804600-45806600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:45804600-45806600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:45804600-45806600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:45804600-45806600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:45804600-45806600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:45804600-45806600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:45804600-45806600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:45804600-45806600	Active TSS	Esophagus	oesophagus
14	chr1:45804600-45806600	Active TSS	Gastric	stomach
15	chr1:45804600-45806800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:45804600-45807000	Active TSS	A549	lung
17	chr1:45804800-45806600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:45804800-45806600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:45804800-45806600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:45804800-45806600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:45804800-45806600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:45804800-45806600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:45804800-45806600	Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:45804800-45806600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:45804800-45806600	Active TSS	Fetal Intestine Large	intestine
26	chr1:45804800-45806600	Active TSS	Fetal Kidney	kidney
27	chr1:45804800-45806600	Active TSS	Fetal Lung	lung
28	chr1:45804800-45806600	Active TSS	Dnd41	blood
29	chr1:45804800-45806600	Active TSS	K562	blood
30	chr1:45804800-45806600	Active TSS	NHDF-Ad	bronchial
31	chr1:45804800-45806800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:45805000-45806600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:45805000-45806600	Active TSS	Brain Substantia Nigra	brain
34	chr1:45805000-45806600	Active TSS	Left Ventricle	heart
35	chr1:45805000-45806600	Active TSS	Lung	lung
36	chr1:45805000-45806600	Active TSS	Ovary	ovary
37	chr1:45805000-45806600	Active TSS	Psoas Muscle	Psoas
38	chr1:45805000-45806600	Active TSS	Right Atrium	heart
39	chr1:45805000-45806600	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr1:45805000-45807000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:45805200-45806600	Active TSS	Aorta	Aorta
42	chr1:45805200-45806600	Active TSS	HSMMtube	muscle
43	chr1:45805400-45807400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
44	chr1:45805600-45806600	Active TSS	Fetal Muscle Trunk	muscle
45	chr1:45805800-45807200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
46	chr1:45806000-45806800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr1:45806000-45806800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:45806000-45807000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr1:45806000-45807400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:45806000-45807600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach

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