Variant report

Variant	rs1462855
Chromosome Location	chr1:155053719-155053720
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	TCF7L2	chr1:155053490-155054590	PANC-1	pancreas:	n/a	n/a
2	SUZ12	chr1:155051293-155055708	NT2-D1	testis:	n/a	n/a
3	USF1	chr1:155053368-155053739	A549	lung:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
4	ATF3	chr1:155053225-155053807	H1-hESC	embryonic stem cell:	n/a	chr1:155053508-155053517 chr1:155053497-155053517 chr1:155053461-155053470 chr1:155053508-155053528
5	USF1	chr1:155053170-155053958	HCT-116	colon:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053319-155053335 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
6	CHD2	chr1:155053110-155053757	H1-hESC	embryonic stem cell:	n/a	chr1:155053150-155053160
7	USF1	chr1:155053342-155053802	K562	blood:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
8	USF2	chr1:155053351-155053776	GM12878	blood:	n/a	chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053507-155053518 chr1:155053570-155053581 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
9	ZBTB7A	chr1:155052178-155053953	ECC-1	luminal epithelium:	n/a	chr1:155053491-155053500 chr1:155052736-155052747 chr1:155053294-155053303
10	BHLHE40	chr1:155053292-155053842	GM12878	blood:	n/a	chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053319-155053335 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
11	FOXP2	chr1:155053323-155053749	SK-N-MC	brain:	n/a	n/a
12	SIN3AK20	chr1:155052980-155053793	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP4	chr1:155053241-155053784	H1-hESC	embryonic stem cell:	n/a	chr1:155053458-155053474 chr1:155053456-155053472
14	CEBPB	chr1:155053453-155053744	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF1	chr1:155053241-155053886	SK-N-SH_RA	brain:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053319-155053335 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
16	USF2	chr1:155053282-155053829	H1-hESC	embryonic stem cell:	n/a	chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053319-155053335 chr1:155053507-155053518 chr1:155053570-155053581 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
17	USF1	chr1:155053352-155053751	A549	lung:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
18	MAX	chr1:155053284-155053931	H1-hESC	embryonic stem cell:	n/a	chr1:155053327-155053337 chr1:155053571-155053582 chr1:155053572-155053581 chr1:155053611-155053622 chr1:155053508-155053517
19	SP1	chr1:155053349-155053768	H1-hESC	embryonic stem cell:	n/a	chr1:155053595-155053604 chr1:155053594-155053604 chr1:155053494-155053506 chr1:155053457-155053471 chr1:155053593-155053605 chr1:155053461-155053471 chr1:155053594-155053608 chr1:155053495-155053509 chr1:155053461-155053471 chr1:155053593-155053605 chr1:155053461-155053470 chr1:155053496-155053505 chr1:155053462-155053471 chr1:155053460-155053472 chr1:155053460-155053472 chr1:155053494-155053506 chr1:155053594-155053603 chr1:155053462-155053471
20	POLR2A	chr1:155051879-155053908	H1-neurons	neurons:	n/a	n/a
21	USF1	chr1:155053059-155054132	H1-hESC	embryonic stem cell:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053319-155053335 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
22	USF1	chr1:155053231-155053936	SK-N-SH	brain:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053319-155053335 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
23	MAX	chr1:155053351-155053748	NB4	blood:	n/a	chr1:155053571-155053582 chr1:155053572-155053581 chr1:155053611-155053622 chr1:155053508-155053517
24	BHLHE40	chr1:155053373-155053750	HepG2	liver:	n/a	chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
25	ATF3	chr1:155053412-155053726	GM12878	blood:	n/a	chr1:155053508-155053517 chr1:155053497-155053517 chr1:155053461-155053470 chr1:155053508-155053528
26	USF1	chr1:155053138-155053998	HCT-116	colon:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053319-155053335 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
27	USF1	chr1:155053326-155053880	SK-N-SH_RA	brain:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
28	EP300	chr1:155053266-155053819	H1-hESC	embryonic stem cell:	n/a	chr1:155053323-155053332
29	USF1	chr1:155053191-155053881	ECC-1	luminal epithelium:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053319-155053335 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
30	USF1	chr1:155053333-155053923	H1-hESC	embryonic stem cell:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
31	NR2F2	chr1:155053033-155053801	K562	blood:	n/a	n/a
32	USF1	chr1:155053368-155053723	HepG2	liver:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
33	MXI1	chr1:155050357-155054177	SK-N-SH	brain:	n/a	chr1:155053571-155053580
34	USF2	chr1:155053382-155053732	HepG2	liver:	n/a	chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053507-155053518 chr1:155053570-155053581 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
35	BHLHE40	chr1:155053390-155053725	A549	lung:	n/a	chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
36	POLR2A	chr1:155051933-155053894	H1-neurons	neurons:	n/a	n/a
37	E2F6	chr1:155053211-155054059	H1-hESC	embryonic stem cell:	n/a	chr1:155053595-155053604 chr1:155053318-155053328 chr1:155053392-155053402 chr1:155053324-155053334 chr1:155053490-155053499 chr1:155053321-155053331 chr1:155053461-155053470
38	ZBTB7A	chr1:155053179-155053824	K562	blood:	n/a	chr1:155053491-155053500 chr1:155053294-155053303
39	POLR2A	chr1:155053038-155053736	K562	blood:	n/a	n/a
40	TCF7L2	chr1:155053262-155053832	HCT-116	colon:	n/a	chr1:155053348-155053358
41	E2F6	chr1:155053314-155053856	H1-hESC	embryonic stem cell:	n/a	chr1:155053595-155053604 chr1:155053318-155053328 chr1:155053392-155053402 chr1:155053324-155053334 chr1:155053490-155053499 chr1:155053321-155053331 chr1:155053461-155053470
42	ZBTB7A	chr1:155053352-155053731	HepG2	liver:	n/a	chr1:155053491-155053500
43	TCF7L2	chr1:155053519-155054600	HEK293	kidney:	n/a	n/a
44	USF1	chr1:155053390-155053740	A549	lung:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
45	MAX	chr1:155053280-155053813	ECC-1	luminal epithelium:	n/a	chr1:155053327-155053337 chr1:155053571-155053582 chr1:155053572-155053581 chr1:155053611-155053622 chr1:155053508-155053517
46	USF1	chr1:155053387-155053765	A549	lung:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
47	MAX	chr1:155053278-155053846	ECC-1	luminal epithelium:	n/a	chr1:155053327-155053337 chr1:155053571-155053582 chr1:155053572-155053581 chr1:155053611-155053622 chr1:155053508-155053517
48	USF1	chr1:155053342-155053832	A549	lung:	n/a	chr1:155053506-155053517 chr1:155053502-155053523 chr1:155053611-155053620 chr1:155053387-155053403 chr1:155053540-155053551 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053507-155053516 chr1:155053612-155053621 chr1:155053508-155053517 chr1:155053542-155053551 chr1:155053612-155053621 chr1:155053606-155053627 chr1:155053540-155053553 chr1:155053541-155053550 chr1:155053570-155053581 chr1:155053509-155053518 chr1:155053506-155053519 chr1:155053456-155053472
49	MAX	chr1:155053298-155053881	H1-hESC	embryonic stem cell:	n/a	chr1:155053327-155053337 chr1:155053571-155053582 chr1:155053572-155053581 chr1:155053611-155053622 chr1:155053508-155053517
50	MAX	chr1:155053041-155053877	MCF-7	breast:	n/a	chr1:155053327-155053337 chr1:155053571-155053582 chr1:155053572-155053581 chr1:155053611-155053622 chr1:155053508-155053517

No.	Distal block	Cell Line	Cell type
1	chr1:154970467..154977420-chr1:155052491..155060843,19	MCF-7	breast:
2	chr1:154991723..154994722-chr1:155052531..155054328,2	MCF-7	breast:
3	chr1:155052736..155055039-chr1:155107332..155109503,2	K562	blood:
4	chr1:154732863..154734660-chr1:155052065..155054488,2	K562	blood:
5	chr1:154967268..154977621-chr1:155049775..155059069,28	MCF-7	breast:
6	chr1:154943760..154947616-chr1:155051936..155054353,3	MCF-7	breast:
7	chr1:155035296..155036481-chr1:155053373..155053975,3	K562	blood:
8	chr1:155049589..155073019-chr1:155085330..155115362,149	MCF-7	breast:
9	chr1:155013927..155032770-chr1:155044175..155061131,53	MCF-7	breast:
10	chr1:155052471..155058946-chr1:155106509..155113930,10	K562	blood:
11	chr1:155052798..155059451-chr1:155162483..155166744,9	K562	blood:
12	chr1:155052864..155055747-chr1:155138816..155141443,2	K562	blood:
13	chr1:154933277..154935564-chr1:155052521..155055105,3	MCF-7	breast:
14	chr1:155053097..155054666-chr1:155148381..155150762,2	MCF-7	breast:

Variant related genes	Relation type
EFNA3	TF binding region
ENSG00000169242	Chromatin interaction
ENSG00000231064	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000232093	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000243364	Chromatin interaction
ENSG00000163348	Chromatin interaction
ENSG00000202027	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000271380	Chromatin interaction
ENSG00000179085	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000160685	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000251246	Chromatin interaction
ENSG00000173207	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1001848	1.00[JPT][hapmap]
rs10157801	0.85[JPT][hapmap]
rs10796938	1.00[ASN][1000 genomes]
rs10796939	0.90[ASN][1000 genomes]
rs10908454	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10908455	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10908456	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10908458	0.85[JPT][hapmap]
rs11264304	0.85[JPT][hapmap]
rs11264305	0.81[YRI][hapmap]
rs11264306	1.00[JPT][hapmap]
rs11264312	1.00[ASN][1000 genomes]
rs11264313	0.97[ASN][1000 genomes]
rs11264314	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11264318	0.82[CEU][hapmap]
rs11264319	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11264321	1.00[ASN][1000 genomes]
rs11264322	0.97[ASN][1000 genomes]
rs11264327	0.93[ASN][1000 genomes]
rs11264328	0.93[ASN][1000 genomes]
rs11264329	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12025371	0.85[JPT][hapmap]
rs12026113	0.97[ASN][1000 genomes]
rs12028043	0.85[JPT][hapmap]
rs12039316	1.00[ASN][1000 genomes]
rs12040970	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12145362	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12904	0.85[JPT][hapmap]
rs1870939	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]
rs2306124	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs35902694	0.85[JPT][hapmap]
rs3765087	1.00[JPT][hapmap]
rs3766916	1.00[JPT][hapmap]
rs3766918	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806256	0.85[JPT][hapmap]
rs4045192	0.85[JPT][hapmap]
rs4246529	0.85[JPT][hapmap]
rs4276913	0.85[JPT][hapmap]
rs4303067	0.95[ASN][1000 genomes]
rs4361977	1.00[ASN][1000 genomes]
rs4625273	1.00[ASN][1000 genomes]
rs4745	0.85[JPT][hapmap]
rs4845407	1.00[JPT][hapmap]
rs4845408	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4971052	1.00[JPT][hapmap]
rs4971066	0.85[JPT][hapmap]
rs4971073	0.85[JPT][hapmap]
rs4971076	0.85[JPT][hapmap]
rs4971079	0.85[JPT][hapmap]
rs56112907	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6427158	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[ASN][1000 genomes]
rs6665822	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6693477	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7364524	0.85[JPT][hapmap]
rs7364869	1.00[ASN][1000 genomes]
rs7365544	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7366138	0.95[ASN][1000 genomes]
rs7366355	1.00[ASN][1000 genomes]
rs7367207	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7367758	0.97[ASN][1000 genomes]
rs7367897	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7368345	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs7534162	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548955	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs9297	0.85[JPT][hapmap]
rs9330263	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription 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	181 gene(s)	inside rSNPs	diseases
3	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
4	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1462855	THEM5	cis	parietal	SCAN
rs1462855	EFNA1	cis	cerebellum	SCAN
rs1462855	S100A3	cis	parietal	SCAN
rs1462855	CRNN	cis	cerebellum	SCAN
rs1462855	SMCP	cis	cerebellum	SCAN
rs1462855	RORC	cis	cerebellum	SCAN
rs1462855	APOA1BP	cis	cerebellum	SCAN
rs1462855	RPRD2	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155050600-155053800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:155050800-155053800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:155050800-155055200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:155050800-155055800	Enhancers	Lung	lung
5	chr1:155050800-155056000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:155051000-155053800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:155051000-155055000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:155051000-155055200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
9	chr1:155051000-155055400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr1:155051000-155055600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:155051200-155053800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:155051200-155055400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
13	chr1:155051400-155053800	Flanking Active TSS	Right Ventricle	heart
14	chr1:155051400-155053800	Flanking Bivalent TSS/Enh	NHEK	skin
15	chr1:155051400-155055200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
16	chr1:155051600-155053800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr1:155051600-155053800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
18	chr1:155051600-155054000	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:155051600-155054200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:155051600-155054400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
21	chr1:155051600-155054800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr1:155051600-155054800	Flanking Bivalent TSS/Enh	A549	lung
23	chr1:155051600-155054800	Bivalent Enhancer	HUVEC	blood vessel
24	chr1:155051800-155053800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
25	chr1:155051800-155055000	Bivalent Enhancer	Liver	Liver
26	chr1:155051800-155055200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:155051800-155055400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:155052000-155055800	Bivalent Enhancer	GM12878-XiMat	blood
29	chr1:155052200-155053800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:155052200-155054000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:155052200-155055400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
32	chr1:155052400-155053800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr1:155052400-155054200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
34	chr1:155052400-155055600	Bivalent Enhancer	Left Ventricle	heart
35	chr1:155052600-155053800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:155052600-155053800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:155052600-155054000	Bivalent Enhancer	Colon Smooth Muscle	Colon
38	chr1:155052600-155054400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:155052600-155055400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
40	chr1:155052600-155055600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
41	chr1:155052800-155053800	Flanking Bivalent TSS/Enh	Thymus	Thymus
42	chr1:155052800-155054000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
43	chr1:155052800-155054200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:155053000-155053800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:155053000-155053800	Flanking Bivalent TSS/Enh	Dnd41	blood
46	chr1:155053000-155054400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:155053000-155055200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr1:155053000-155055400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
49	chr1:155053000-155055400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:155053200-155053800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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