Variant report

Variant	rs9325145
Chromosome Location	chr12:49525884-49525885
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	MYC	chr12:49523695-49526321	K562	blood:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
2	POLR2A	chr12:49522738-49526030	GM12891	blood:	n/a	n/a
3	KAP1	chr12:49525431-49526320	U2OS	brain:	n/a	n/a
4	POLR2A	chr12:49523904-49526190	Raji	blood:	n/a	n/a
5	PML	chr12:49523504-49526012	K562	blood:	n/a	n/a
6	MAZ	chr12:49523891-49526135	Hela-S3	cervix:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
7	TBP	chr12:49523914-49527115	Hela-S3	cervix:	n/a	n/a
8	ATF2	chr12:49525007-49525915	GM12878	blood:	n/a	n/a
9	MYC	chr12:49523585-49525901	A549	lung:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
10	MXI1	chr12:49523654-49526079	GM12878	blood:	n/a	n/a
11	MAX	chr12:49523414-49526339	A549	lung:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
12	MEF2A	chr12:49525875-49526384	K562	blood:	n/a	chr12:49526141-49526156
13	MYBL2	chr12:49523739-49525892	HepG2	liver:	n/a	n/a
14	MYC	chr12:49523798-49526206	NB4	blood:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
15	MYC	chr12:49525400-49526583	MCF10A-Er-Src	breast:	n/a	chr12:49525404-49525413
16	MAX	chr12:49523669-49526041	HepG2	liver:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
17	ZMIZ1	chr12:49523824-49526085	K562	blood:	n/a	n/a
18	EP300	chr12:49523891-49525921	GM12878	blood:	n/a	chr12:49525344-49525360 chr12:49525211-49525227 chr12:49524684-49524698 chr12:49525630-49525644 chr12:49524685-49524694
19	MTA3	chr12:49523406-49526131	GM12878	blood:	n/a	n/a
20	PML	chr12:49523175-49526245	GM12878	blood:	n/a	chr12:49523216-49523224
21	EP300	chr12:49524037-49526227	GM12878	blood:	n/a	chr12:49525344-49525360 chr12:49525211-49525227 chr12:49524684-49524698 chr12:49525630-49525644 chr12:49524685-49524694
22	POLR2A	chr12:49519438-49525993	GM12892	blood:	n/a	n/a
23	MAX	chr12:49523821-49526175	GM12878	blood:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
24	MYC	chr12:49523517-49526175	K562	blood:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
25	GTF3C2	chr12:49525500-49526014	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr12:49522517-49526329	SK-N-SH	brain:	n/a	n/a
27	NFIC	chr12:49525306-49525916	GM12878	blood:	n/a	n/a
28	TBL1XR1	chr12:49523839-49526145	GM12878	blood:	n/a	n/a
29	FOXA1	chr12:49525814-49526275	T-47D	breast:	n/a	n/a
30	RCOR1	chr12:49523928-49526262	Hela-S3	cervix:	n/a	n/a
31	TEAD4	chr12:49523705-49526362	K562	blood:	n/a	n/a
32	KAP1	chr12:49525373-49526336	HEK293	kidney:	n/a	n/a
33	POLR2A	chr12:49520390-49525928	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr12:49523534-49526207	HCT-116	colon:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
35	MXI1	chr12:49523785-49526342	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr12:49523726-49526287	PBDE	blood:	n/a	n/a
37	POLR2A	chr12:49523206-49526347	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr12:49522760-49525913	GM12878	blood:	n/a	n/a
39	RELA	chr12:49523834-49526209	GM18951	blood:	n/a	n/a
40	FOS	chr12:49525797-49526175	MCF10A-Er-Src	breast:	n/a	n/a
41	SP1	chr12:49523700-49526163	A549	lung:	n/a	chr12:49524116-49524125 chr12:49524115-49524126 chr12:49525329-49525341 chr12:49526126-49526138 chr12:49524115-49524127 chr12:49526127-49526137 chr12:49525331-49525340 chr12:49526128-49526137 chr12:49524115-49524127 chr12:49525179-49525188 chr12:49525329-49525341 chr12:49524117-49524126 chr12:49524117-49524126 chr12:49524116-49524126 chr12:49524112-49524126 chr12:49526127-49526137 chr12:49526127-49526136 chr12:49526127-49526136 chr12:49526126-49526138 chr12:49525330-49525344 chr12:49524116-49524126
42	MAX	chr12:49523585-49526183	A549	lung:	n/a	chr12:49524068-49524078 chr12:49525404-49525413 chr12:49524068-49524079 chr12:49524067-49524077 chr12:49524069-49524078 chr12:49524068-49524079 chr12:49524067-49524080 chr12:49524069-49524078 chr12:49524070-49524077 chr12:49524069-49524079 chr12:49524067-49524080
43	SIX5	chr12:49523593-49526118	A549	lung:	n/a	n/a
44	GATA3	chr12:49523624-49525907	A549	lung:	n/a	chr12:49525477-49525485 chr12:49524686-49524696
45	BCL3	chr12:49525350-49526088	A549	lung:	n/a	chr12:49525630-49525639
46	EP300	chr12:49523916-49526295	K562	blood:	n/a	chr12:49525344-49525360 chr12:49525211-49525227 chr12:49524684-49524698 chr12:49525630-49525644 chr12:49524685-49524694
47	EP300	chr12:49523935-49525973	GM12878	blood:	n/a	chr12:49525344-49525360 chr12:49525211-49525227 chr12:49524684-49524698 chr12:49525630-49525644 chr12:49524685-49524694
48	CHD1	chr12:49523763-49526063	GM12878	blood:	n/a	chr12:49524215-49524222
49	ZKSCAN1	chr12:49523901-49525977	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr12:49523926-49525913	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49523706..49526236-chr12:50134306..50136655,2	K562	blood:
2	chr12:49477289..49493962-chr12:49512467..49528127,64	K562	blood:
3	chr12:49522979..49526796-chr12:49655970..49661455,13	MCF-7	breast:
4	chr12:49349007..49352698-chr12:49523718..49526243,3	K562	blood:
5	chr12:49410733..49415536-chr12:49523564..49526910,8	K562	blood:
6	chr12:49395492..49398353-chr12:49523605..49526293,2	K562	blood:
7	chr12:49523171..49526001-chr12:49621210..49624929,3	MCF-7	breast:
8	chr12:49478072..49490419-chr12:49518907..49527034,52	K562	blood:
9	chr12:49425028..49428034-chr12:49523264..49526467,3	MCF-7	breast:
10	chr11:61735214..61735845-chr12:49525117..49526055,2	Hela-S3	cervix:
11	chr12:49500412..49506796-chr12:49520694..49526646,13	MCF-7	breast:
12	chr12:49519485..49526890-chr12:49616239..49624332,15	K562	blood:
13	chr12:49494880..49496808-chr12:49524661..49526634,2	MCF-7	breast:
14	chr12:49523298..49526534-chr12:49578242..49583023,5	K562	blood:
15	chr12:49525315..49525916-chr21:34851928..34852894,2	Hela-S3	cervix:
16	chr12:49484529..49486951-chr12:49524978..49527163,2	MCF-7	breast:
17	chr12:49481394..49485222-chr12:49523488..49526115,4	MCF-7	breast:
18	chr12:49396506..49398418-chr12:49524644..49526677,2	K562	blood:
19	chr11:62608415..62609642-chr12:49524752..49526733,8	Hela-S3	cervix:
20	chr12:49523107..49527860-chr12:49656151..49664210,14	MCF-7	breast:
21	chr12:49513866..49528454-chr12:49616957..49635747,92	K562	blood:
22	chr12:49462171..49464996-chr12:49523872..49525977,3	MCF-7	breast:
23	chr12:49523734..49526055-chr12:49729624..49732129,2	K562	blood:
24	chr12:49497413..49500186-chr12:49523883..49526530,3	MCF-7	breast:
25	chr12:49207152..49209169-chr12:49524378..49526009,2	K562	blood:
26	chr1:149223422..149226042-chr12:49523996..49525973,2	MCF-7	breast:
27	chr12:49523551..49526039-chr17:56756655..56758346,2	K562	blood:
28	chr12:49411020..49415552-chr12:49523211..49527183,13	K562	blood:
29	chr12:49524142..49526154-chr12:49690463..49692891,2	MCF-7	breast:
30	chr12:49524722..49526786-chr6:26026886..26029164,2	K562	blood:
31	chr12:49524766..49526462-chr12:50478450..50480251,2	MCF-7	breast:
32	chr12:49440399..49469923-chr12:49518291..49528303,83	K562	blood:
33	chr12:49519914..49528393-chr12:49656527..49662615,75	K562	blood:
34	chr12:49519590..49527322-chr12:49655772..49662610,57	K562	blood:
35	chr12:49525020..49525922-chr17:76836170..76837112,2	Hela-S3	cervix:
36	chr12:49524451..49526643-chr2:136498747..136501231,2	MCF-7	breast:
37	chr12:49522685..49527255-chr12:49580115..49585539,18	MCF-7	breast:
38	chr12:49497954..49506685-chr12:49522695..49526444,13	MCF-7	breast:
39	chr12:49523716..49526507-chr12:49960651..49963397,2	K562	blood:
40	chr12:49450455..49459531-chr12:49522374..49527837,16	MCF-7	breast:
41	chr12:49493937..49507579-chr12:49519161..49528577,46	K562	blood:
42	chr12:49523189..49526160-chr12:49580301..49583522,3	K562	blood:
43	chr12:49451508..49465481-chr12:49521303..49528986,40	MCF-7	breast:
44	chr12:49446392..49469923-chr12:49518127..49527853,66	K562	blood:
45	chr12:49522957..49526705-chr12:49580771..49584514,11	MCF-7	breast:

Variant related genes	Relation type
TUBA1B	TF binding region
ENSG00000181929	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000139549	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000124529	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000110844	Chromatin interaction
ENSG00000167550	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000066117	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000186897	Chromatin interaction
ENSG00000167552	Chromatin interaction
ENSG00000055483	Chromatin interaction
ENSG00000142188	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000269089	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000144224	Chromatin interaction
ENSG00000258101	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1039225	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs1057548	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10747561	0.88[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs10747562	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];0.91[YRI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10747563	0.94[CHB][hapmap]
rs10783302	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs10783304	0.92[ASN][1000 genomes]
rs10783306	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783307	0.96[CEU][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783308	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10875922	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10875924	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10875925	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875927	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10875928	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10875929	0.89[EUR][1000 genomes]
rs10875930	0.86[EUR][1000 genomes]
rs10875931	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];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs10875934	0.94[CHB][hapmap];0.82[CHD][hapmap]
rs11168857	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap]
rs11168862	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.89[MKK][hapmap];0.84[TSI][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168867	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11168874	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168882	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168883	0.83[EUR][1000 genomes]
rs11168884	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168885	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168888	0.88[EUR][1000 genomes]
rs11168890	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11168893	0.94[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs11168894	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11168895	0.87[EUR][1000 genomes]
rs11168901	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11168902	0.84[EUR][1000 genomes]
rs11168903	0.84[EUR][1000 genomes]
rs11168904	0.90[EUR][1000 genomes]
rs11168909	0.86[EUR][1000 genomes]
rs11168910	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs11837207	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12227296	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12227610	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12227770	0.85[EUR][1000 genomes]
rs12228775	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12229524	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs12229529	0.85[EUR][1000 genomes]
rs12306494	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12318740	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12579015	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1476137	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476138	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1874908	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.87[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[EUR][1000 genomes]
rs1991427	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1991428	0.88[EUR][1000 genomes]
rs2016107	0.81[EUR][1000 genomes]
rs2047101	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs2114845	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2114846	0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2162643	0.89[EUR][1000 genomes]
rs2162644	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2241727	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279596	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs2334930	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];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs2334931	0.90[EUR][1000 genomes]
rs2753	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878287	0.86[EUR][1000 genomes]
rs35884657	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3741621	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs57853986	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58336603	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58711211	0.85[EUR][1000 genomes]
rs6580701	0.89[EUR][1000 genomes]
rs6580703	0.87[EUR][1000 genomes]
rs697624	0.85[EUR][1000 genomes]
rs7306084	0.94[CHB][hapmap]
rs73110168	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7311346	0.89[EUR][1000 genomes]
rs731350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7953169	0.85[EUR][1000 genomes]
rs7954521	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7954530	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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs7957983	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7957998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs7958241	0.88[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7958572	0.96[CEU][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7959497	0.83[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap]
rs7969963	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7969967	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7976890	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978448	0.87[CEU][hapmap];0.92[ASN][1000 genomes]
rs7978659	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9739878	0.84[EUR][1000 genomes]
rs9788139	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788140	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	esv3417605	chr12:49521878-49578961	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9325145	METTL7A	cis	parietal	SCAN
rs9325145	RHEBL1	cis	parietal	SCAN
rs9325145	OR10AD1	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49523600-49526000	Active TSS	Right Ventricle	heart
2	chr12:49523800-49526200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr12:49523800-49526200	Active TSS	Esophagus	oesophagus
4	chr12:49523800-49527200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr12:49524000-49526000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:49524000-49526000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr12:49524000-49526000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:49524000-49526200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:49524000-49526200	Active TSS	Psoas Muscle	Psoas
10	chr12:49524000-49526600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:49524000-49526800	Active TSS	GM12878-XiMat	blood
12	chr12:49524000-49527000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr12:49524000-49527200	Active TSS	Fetal Brain Female	brain
14	chr12:49524000-49527400	Active TSS	Brain Germinal Matrix	brain
15	chr12:49524000-49527400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:49524000-49527600	Active TSS	Aorta	Aorta
17	chr12:49524200-49526200	Active TSS	Fetal Muscle Trunk	muscle
18	chr12:49524200-49527400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr12:49524400-49526000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:49524400-49526000	Active TSS	Colonic Mucosa	Colon
21	chr12:49524400-49526000	Active TSS	Left Ventricle	heart
22	chr12:49524400-49526200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr12:49524400-49526800	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr12:49524400-49527000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:49524400-49527000	Active TSS	NHLF	lung
26	chr12:49524400-49527400	Active TSS	NHDF-Ad	bronchial
27	chr12:49524600-49526000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:49524600-49526000	Active TSS	Fetal Thymus	thymus
29	chr12:49524600-49526200	Active TSS	H1 Cell Line	embryonic stem cell
30	chr12:49524600-49526600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr12:49524600-49526600	Active TSS	Stomach Smooth Muscle	stomach
32	chr12:49524600-49526800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:49524600-49526800	Active TSS	K562	blood
34	chr12:49524600-49527400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:49524800-49526000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:49524800-49527000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:49525200-49526000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:49525400-49526000	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr12:49525400-49526000	Flanking Active TSS	Liver	Liver
40	chr12:49525400-49526200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr12:49525400-49526200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:49525400-49526200	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr12:49525400-49526200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr12:49525400-49526200	Flanking Active TSS	HepG2	liver
45	chr12:49525400-49526400	Flanking Active TSS	Fetal Brain Male	brain
46	chr12:49525400-49526400	Flanking Active TSS	Fetal Lung	lung
47	chr12:49525400-49526400	Flanking Active TSS	HUVEC	blood vessel
48	chr12:49525400-49526400	Flanking Active TSS	NH-A	brain
49	chr12:49525400-49527000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr12:49525400-49527200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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Variant report

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