Variant report

Variant	rs12227905
Chromosome Location	chr12:42719290-42719291
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	POLR2A	chr12:42718636-42720635	MCF10A-Er-Src	breast:	n/a	n/a
2	HCFC1	chr12:42717644-42721241	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:42719285-42720369	SK-N-MC	brain:	n/a	n/a
4	MAX	chr12:42719281-42720498	A549	lung:	n/a	chr12:42720471-42720480 chr12:42720472-42720481
5	POLR2A	chr12:42719085-42720206	IMR90	lung:	n/a	n/a
6	MAFK	chr12:42719139-42719488	HepG2	liver:	n/a	chr12:42719324-42719335 chr12:42719320-42719335 chr12:42719323-42719337 chr12:42719325-42719336 chr12:42719320-42719336 chr12:42719431-42719445 chr12:42719325-42719336 chr12:42719433-42719444
7	SP1	chr12:42719281-42720209	A549	lung:	n/a	chr12:42719831-42719844 chr12:42720091-42720101 chr12:42720093-42720107 chr12:42719672-42719685
8	EP300	chr12:42719284-42720074	GM12878	blood:	n/a	chr12:42719549-42719563 chr12:42719957-42719964
9	RFX5	chr12:42719012-42720786	Hela-S3	cervix:	n/a	n/a
10	GATA1	chr12:42719286-42720518	PBDE	blood:	n/a	chr12:42720222-42720230 chr12:42719311-42719318 chr12:42719311-42719318 chr12:42720470-42720479 chr12:42719304-42719325 chr12:42719311-42719318
11	MXI1	chr12:42718981-42721792	SK-N-SH	brain:	n/a	n/a
12	BRCA1	chr12:42719167-42720725	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr12:42719284-42721000	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAZ	chr12:42719241-42720386	IMR90	lung:	n/a	n/a
15	SIN3A	chr12:42719190-42720477	H1-hESC	embryonic stem cell:	n/a	n/a
16	GABPA	chr12:42719251-42720443	MCF-7	breast:	n/a	n/a
17	MAFK	chr12:42719041-42719504	HepG2	liver:	n/a	chr12:42719324-42719335 chr12:42719320-42719335 chr12:42719323-42719337 chr12:42719325-42719336 chr12:42719320-42719336 chr12:42719431-42719445 chr12:42719325-42719336 chr12:42719433-42719444
18	MAFK	chr12:42719162-42719478	IMR90	lung:	n/a	chr12:42719324-42719335 chr12:42719320-42719335 chr12:42719323-42719337 chr12:42719325-42719336 chr12:42719320-42719336 chr12:42719431-42719445 chr12:42719325-42719336 chr12:42719433-42719444
19	MAFK	chr12:42719219-42720216	K562	blood:	n/a	chr12:42719324-42719335 chr12:42719320-42719335 chr12:42719323-42719337 chr12:42719325-42719336 chr12:42719320-42719336 chr12:42719431-42719445 chr12:42719325-42719336 chr12:42719433-42719444
20	MAFF	chr12:42719165-42719488	HepG2	liver:	n/a	chr12:42719319-42719337
21	POLR2A	chr12:42719169-42720676	MCF10A-Er-Src	breast:	n/a	n/a
22	REST	chr12:42719259-42720506	H1-neurons	neurons:	n/a	n/a
23	MAFK	chr12:42719161-42720264	Hela-S3	cervix:	n/a	chr12:42719324-42719335 chr12:42719320-42719335 chr12:42720202-42720217 chr12:42719323-42719337 chr12:42719325-42719336 chr12:42719320-42719336 chr12:42719431-42719445 chr12:42719325-42719336 chr12:42719433-42719444
24	MYC	chr12:42718990-42720445	K562	blood:	n/a	n/a
25	MAX	chr12:42719263-42720424	ECC-1	luminal epithelium:	n/a	n/a
26	MYC	chr12:42719068-42720758	MCF10A-Er-Src	breast:	n/a	chr12:42720471-42720480 chr12:42720472-42720481
27	MAFF	chr12:42719143-42719482	K562	blood:	n/a	chr12:42719319-42719337

No.	Distal block	Cell Line	Cell type
1	chr12:42718314..42720744-chr12:42735500..42738358,4	K562	blood:
2	chr12:42718161..42719676-chr12:42732826..42735743,2	MCF-7	breast:
3	chr12:42630581..42632543-chr12:42717454..42720310,3	MCF-7	breast:
4	chr12:42536402..42539877-chr12:42717128..42721445,5	MCF-7	breast:
5	chr12:42631625..42634573-chr12:42719114..42721447,2	K562	blood:
6	chr12:42536827..42538636-chr12:42719233..42721021,2	K562	blood:
7	chr12:42537125..42540322-chr12:42717377..42722308,7	MCF-7	breast:
8	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:
9	chr12:42718944..42722637-chr12:42724163..42726509,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-YAF2-1	chr12:42719155-42719621	NONHSAT027770

Variant related genes	Relation type
PPHLN1	TF binding region
ENSG00000134283	Chromatin interaction
ENSG00000015153	Chromatin interaction
ENSG00000151233	Chromatin interaction

Extended variants
information (count: 158 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs10400520	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880285	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880286	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880289	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880290	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880291	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880292	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880293	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880296	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880299	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10880300	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10880301	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11181411	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11181414	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181415	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181418	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181419	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11181426	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181429	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11181430	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181431	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181434	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181436	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181437	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181438	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181440	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181441	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11181444	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181445	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181447	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181448	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181449	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181451	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181457	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181458	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181459	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181460	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181470	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181474	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11181478	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181480	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11181481	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181482	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11181489	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11181495	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11181498	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11181505	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11181506	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11829171	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11831729	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11832055	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11834697	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11835257	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11835826	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12227380	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12227738	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12228701	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12228962	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12229262	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12229735	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12230215	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12230915	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12578431	0.89[ASN][1000 genomes]
rs12579754	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12580906	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12581574	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12581958	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12582924	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1452104	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17091102	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17091176	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2053943	0.82[EUR][1000 genomes]
rs2053945	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2305422	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2406675	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2406873	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2406874	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2406970	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2406971	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2897568	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34852216	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3810786	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810788	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810789	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810790	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3810791	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3810792	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3827523	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3852595	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3950231	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4382968	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55645737	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55653923	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55949213	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56036005	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56347355	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56404257	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56755189	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58220548	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58826545	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58984176	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59844371	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60131710	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60184016	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60846704	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60949933	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60971233	0.82[ASN][1000 genomes]
rs61375966	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61471584	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61924344	0.82[ASN][1000 genomes]
rs61924349	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61924352	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61924354	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61924355	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61924360	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61924365	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61924368	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61926561	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61926562	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61926563	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61926566	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61926568	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61926570	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61926571	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61926572	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61926573	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61926575	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61926588	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61926595	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61926596	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61926597	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61926599	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61926600	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67215543	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73118491	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73118495	0.90[ASN][1000 genomes]
rs73122434	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73124421	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7314223	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs746893	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7955547	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7955802	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7956425	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7956485	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7958601	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7958963	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7959691	0.80[AMR][1000 genomes]
rs7963726	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7966669	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7967131	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7970870	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7975971	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7976731	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs974218	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12227905	PRICKLE1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42701800-42719400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:42705600-42719400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:42705600-42719400	Weak transcription	Small Intestine	intestine
4	chr12:42705800-42719400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:42706000-42719400	Weak transcription	Aorta	Aorta
6	chr12:42706000-42719600	Weak transcription	Spleen	Spleen
7	chr12:42707800-42719400	Weak transcription	Colonic Mucosa	Colon
8	chr12:42709000-42719400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:42709000-42719400	Weak transcription	Gastric	stomach
10	chr12:42709400-42719400	Weak transcription	Esophagus	oesophagus
11	chr12:42712600-42719400	Weak transcription	Lung	lung
12	chr12:42714600-42719400	Weak transcription	Left Ventricle	heart
13	chr12:42717800-42719400	Weak transcription	Pancreas	Pancrea
14	chr12:42718600-42719400	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:42718600-42719600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr12:42718600-42719600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:42718600-42719600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr12:42718600-42720800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:42718600-42720800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:42718600-42720800	Active TSS	Rectal Smooth Muscle	rectum
21	chr12:42718600-42721000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:42718600-42721000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:42718600-42721400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr12:42718800-42719400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:42718800-42719400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:42718800-42719400	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr12:42718800-42719400	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr12:42718800-42719400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr12:42718800-42719600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:42718800-42719600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:42718800-42719600	Active TSS	Brain Germinal Matrix	brain
32	chr12:42718800-42719800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:42718800-42720400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr12:42718800-42720600	Active TSS	HSMM	muscle
35	chr12:42718800-42720800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:42718800-42720800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr12:42718800-42720800	Active TSS	NHLF	lung
38	chr12:42718800-42721000	Active TSS	H1 Cell Line	embryonic stem cell
39	chr12:42718800-42721600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:42719000-42719400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr12:42719000-42719400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr12:42719000-42719400	Active TSS	HepG2	liver
43	chr12:42719000-42719600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr12:42719000-42719600	Flanking Active TSS	HUVEC	blood vessel
45	chr12:42719000-42719800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr12:42719000-42720400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:42719000-42720600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:42719000-42720600	Active TSS	Brain Angular Gyrus	brain
49	chr12:42719000-42720600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr12:42719000-42720600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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