Variant report

Variant	rs10774555
Chromosome Location	chr12:120971978-120971979
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	STAT3	chr12:120971978-120972239	MCF10A-Er-Src	breast:	n/a	chr12:120972099-120972107 chr12:120972111-120972123 chr12:120972097-120972108 chr12:120972096-120972110
2	MXI1	chr12:120971971-120972843	HepG2	liver:	n/a	n/a
3	TBL1XR1	chr12:120971915-120972351	GM12878	blood:	n/a	n/a
4	TBP	chr12:120971931-120972331	HepG2	liver:	n/a	n/a
5	ETS1	chr12:120971891-120972352	GM12878	blood:	n/a	chr12:120971953-120971966 chr12:120972091-120972104
6	MAX	chr12:120971939-120973247	Hela-S3	cervix:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
7	JUND	chr12:120971971-120972403	K562	blood:	n/a	n/a
8	POLR2A	chr12:120971925-120972590	H1-hESC	embryonic stem cell:	n/a	n/a
9	RUNX3	chr12:120971802-120972330	GM12878	blood:	n/a	n/a
10	YY1	chr12:120971970-120972623	H1-hESC	embryonic stem cell:	n/a	chr12:120972412-120972423
11	TEAD4	chr12:120971934-120972379	K562	blood:	n/a	n/a
12	REST	chr12:120971874-120973214	H1-neurons	neurons:	n/a	chr12:120972803-120972821 chr12:120972789-120972802 chr12:120972802-120972822
13	ETS1	chr12:120971886-120972342	A549	lung:	n/a	chr12:120971953-120971966 chr12:120972091-120972104
14	POLR2A	chr12:120971857-120973059	Hela-S3	cervix:	n/a	n/a
15	SIX5	chr12:120971832-120972360	GM12878	blood:	n/a	chr12:120972092-120972101 chr12:120972094-120972103 chr12:120972089-120972098 chr12:120972090-120972104
16	POLR2A	chr12:120971879-120973377	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:120971836-120973183	K562	blood:	n/a	n/a
18	TBL1XR1	chr12:120971846-120972286	K562	blood:	n/a	n/a
19	RUNX3	chr12:120971827-120972406	GM12878	blood:	n/a	n/a
20	MYC	chr12:120971962-120973214	NB4	blood:	n/a	chr12:120972389-120972399 chr12:120972792-120972802
21	POLR2A	chr12:120971853-120973287	PBDE	blood:	n/a	n/a
22	POLR2A	chr12:120971936-120972856	GM12892	blood:	n/a	n/a
23	MXI1	chr12:120971902-120973622	GM12878	blood:	n/a	n/a
24	JUND	chr12:120971722-120973611	SK-N-SH	brain:	n/a	chr12:120973085-120973096 chr12:120971935-120971949
25	POLR2A	chr12:120971896-120973126	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr12:120971897-120973226	K562	blood:	n/a	n/a
27	POLR2A	chr12:120971930-120973167	GM12891	blood:	n/a	n/a
28	WRNIP1	chr12:120971952-120972230	GM12878	blood:	n/a	n/a
29	ELF1	chr12:120971905-120972340	SK-N-SH	brain:	n/a	chr12:120972138-120972149
30	YY1	chr12:120971969-120972750	H1-hESC	embryonic stem cell:	n/a	chr12:120972412-120972423
31	SIX5	chr12:120971682-120972495	A549	lung:	n/a	chr12:120972092-120972101 chr12:120972094-120972103 chr12:120972089-120972098 chr12:120972090-120972104
32	FOXP2	chr12:120971880-120972319	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr12:120971929-120972386	U87	brain:	n/a	n/a
34	CHD1	chr12:120971909-120972331	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:120971887-120972690	ProgFib	skin:	n/a	n/a
36	CREB1	chr12:120971893-120972471	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:120971940-120973021	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr12:120971961-120972592	HepG2	liver:	n/a	n/a
39	STAT3	chr12:120971908-120972187	GM12878	blood:	n/a	chr12:120972099-120972107 chr12:120972111-120972123 chr12:120972097-120972108 chr12:120972096-120972110
40	ELF1	chr12:120971858-120972343	A549	lung:	n/a	chr12:120972138-120972149
41	SIX5	chr12:120971910-120972221	K562	blood:	n/a	chr12:120972092-120972101 chr12:120972094-120972103 chr12:120972089-120972098 chr12:120972090-120972104
42	TAF1	chr12:120971904-120972469	A549	lung:	n/a	n/a
43	ZNF143	chr12:120971849-120972689	GM12878	blood:	n/a	chr12:120972092-120972110 chr12:120972099-120972114 chr12:120972094-120972103 chr12:120972092-120972101
44	ELF1	chr12:120971866-120972465	SK-N-SH	brain:	n/a	chr12:120972415-120972424 chr12:120972138-120972149
45	IRF1	chr12:120971855-120972378	K562	blood:	n/a	n/a
46	YY1	chr12:120971918-120973207	ECC-1	luminal epithelium:	n/a	chr12:120972412-120972423 chr12:120972795-120972804 chr12:120972789-120972803
47	NR2F2	chr12:120971760-120972339	K562	blood:	n/a	n/a
48	PML	chr12:120971865-120972474	K562	blood:	n/a	n/a
49	POLR2A	chr12:120971934-120972449	HUVEC	blood vessel:	n/a	n/a
50	SP1	chr12:120971817-120972393	A549	lung:	n/a	chr12:120972354-120972366

No.	Distal block	Cell Line	Cell type
1	chr12:120883164..120885526-chr12:120971268..120972852,2	K562	blood:
2	chr12:120970635..120973356-chr12:121018386..121020894,3	K562	blood:
3	chr12:120727107..120731318-chr12:120971335..120975286,11	K562	blood:
4	chr12:120728453..120733011-chr12:120965347..120973411,16	MCF-7	breast:
5	chr12:120931985..120935585-chr12:120970035..120974742,8	MCF-7	breast:
6	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:
7	chr12:120882042..120885526-chr12:120971268..120975128,6	K562	blood:
8	chr12:120932493..120935871-chr12:120970423..120972998,4	K562	blood:
9	chr12:120932857..120935871-chr12:120969535..120974885,9	K562	blood:
10	chr12:120906126..120908752-chr12:120971938..120973464,2	MCF-7	breast:
11	chr12:120933021..120935221-chr12:120970996..120973452,2	MCF-7	breast:
12	chr12:120964646..120969249-chr12:120969286..120973951,11	MCF-7	breast:
13	chr12:120971743..120974059-chr12:121017467..121020168,3	MCF-7	breast:
14	chr12:120729269..120732334-chr12:120971435..120974602,3	K562	blood:
15	chr12:120728052..120732322-chr12:120971723..120974902,6	MCF-7	breast:
16	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:

Variant related genes	Relation type
COQ5	TF binding region
RNF10	TF binding region
ENSG00000170855	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1048830	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1050187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10744752	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10774549	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774551	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774553	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774560	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10774561	0.86[EUR][1000 genomes]
rs10849753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849754	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849757	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849759	0.95[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849766	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849767	0.85[EUR][1000 genomes]
rs11065132	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065145	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065149	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065150	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065151	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065154	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309824	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312613	0.85[EUR][1000 genomes]
rs12370495	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12371550	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12813930	0.93[ASN][1000 genomes]
rs12814055	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1563333	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2138251	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168319	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2233676	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235217	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235218	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2292681	0.91[YRI][hapmap]
rs2393590	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3213565	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742052	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759394	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759396	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3893104	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3916065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4766968	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4766969	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767897	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4767902	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767903	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767904	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767905	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767906	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767910	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767911	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767912	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767914	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4767916	0.86[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs509445	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs516479	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523522	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs524735	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs546417	0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55848094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56029862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs579919	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs585510	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs603574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs608724	0.90[YRI][hapmap]
rs61945857	0.91[AMR][1000 genomes]
rs643372	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs651627	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs655530	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs670568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs687873	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7136951	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71454645	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308053	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7471	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7488320	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs787947	0.91[YRI][hapmap]
rs9040	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9788155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9795621	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3324282	chr12:120971394-120973942	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs10774555	COQ5	cis	Artery Aorta	GTEx
rs10774555	POP5	cis	lymphoblastoid	seeQTL
rs10774555	KNTC1	cis	parietal	SCAN
rs10774555	COQ5	cis	lung	GTEx
rs10774555	COQ5	cis	Nerve Tibial	GTEx
rs10774555	COQ5	Cis_1M	lymphoblastoid	RTeQTL
rs10774555	COQ5	cis	parietal	SCAN
rs10774555	COQ5	cis	Adipose Subcutaneous	GTEx
rs10774555	COQ5	cis	Muscle Skeletal	GTEx
rs10774555	COQ5	cis	Esophagus Muscularis	GTEx
rs10774555	COQ5	cis	cerebellum	SCAN
rs10774555	COQ5	cis	Heart Left Ventricle	GTEx
rs10774555	COQ5	cis	lymphoblastoid	seeQTL
rs10774555	COQ5	cis	Artery Tibial	GTEx
rs10774555	COQ5	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120967200-120972200	Weak transcription	Spleen	Spleen
2	chr12:120967400-120972000	Weak transcription	Esophagus	oesophagus
3	chr12:120967400-120972200	Weak transcription	Lung	lung
4	chr12:120967400-120972200	Weak transcription	Small Intestine	intestine
5	chr12:120967600-120972200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:120967800-120972000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:120967800-120972000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:120968000-120972000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:120968000-120972000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:120968000-120972000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:120968000-120972000	Weak transcription	NH-A	brain
12	chr12:120970800-120972000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:120970800-120972200	Weak transcription	Fetal Heart	heart
14	chr12:120971200-120973800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:120971400-120973400	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr12:120971400-120974000	Active TSS	Duodenum Mucosa	Duodenum
17	chr12:120971600-120972000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:120971600-120972800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:120971600-120973000	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr12:120971600-120973400	Active TSS	Brain Cingulate Gyrus	brain
21	chr12:120971600-120973600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:120971800-120972000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr12:120971800-120972000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr12:120971800-120972000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr12:120971800-120972000	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr12:120971800-120972000	Enhancers	Primary T cells from cord blood	blood
27	chr12:120971800-120972000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr12:120971800-120972000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr12:120971800-120972000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr12:120971800-120972000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr12:120971800-120972000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr12:120971800-120972000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:120971800-120972000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr12:120971800-120972000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:120971800-120972000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr12:120971800-120972000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:120971800-120972000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:120971800-120972000	Enhancers	Fetal Brain Male	brain
39	chr12:120971800-120972000	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr12:120971800-120972000	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr12:120971800-120972000	Flanking Active TSS	Fetal Kidney	kidney
42	chr12:120971800-120972000	Flanking Active TSS	Fetal Thymus	thymus
43	chr12:120971800-120972000	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr12:120971800-120972000	Flanking Active TSS	A549	lung
45	chr12:120971800-120972000	Flanking Active TSS	Dnd41	blood
46	chr12:120971800-120972000	Flanking Active TSS	Hela-S3	cervix
47	chr12:120971800-120972000	Flanking Active TSS	HMEC	breast
48	chr12:120971800-120972000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr12:120971800-120972200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr12:120971800-120972200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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