Variant report

Variant	rs12317270
Chromosome Location	chr12:32831091-32831092
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	SP1	chr12:32830659-32831221	A549	lung:	n/a	chr12:32831152-32831161
2	EP300	chr12:32830799-32831153	HepG2	liver:	n/a	n/a
3	NR3C1	chr12:32830815-32831093	A549	lung:	n/a	n/a
4	STAT3	chr12:32830843-32831132	MCF10A-Er-Src	breast:	n/a	chr12:32831045-32831056
5	CEBPB	chr12:32830785-32831142	IMR90	lung:	n/a	n/a
6	STAT3	chr12:32830869-32831148	Hela-S3	cervix:	n/a	chr12:32831045-32831056
7	CEBPB	chr12:32830722-32831205	A549	lung:	n/a	n/a
8	CEBPB	chr12:32830779-32831103	MCF-7	breast:	n/a	n/a
9	GATA1	chr12:32830861-32831351	PBDE	blood:	n/a	chr12:32831031-32831038
10	EP300	chr12:32830804-32831188	T-47D	breast:	n/a	chr12:32831155-32831171
11	CEBPB	chr12:32830779-32831100	A549	lung:	n/a	n/a
12	CEBPB	chr12:32830789-32831134	K562	blood:	n/a	n/a
13	EP300	chr12:32830794-32831170	A549	lung:	n/a	n/a
14	GATA3	chr12:32830688-32831381	SK-N-SH	brain:	n/a	chr12:32831031-32831038
15	RFX5	chr12:32830844-32831093	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr12:32830802-32831100	HepG2	liver:	n/a	n/a
17	STAT3	chr12:32830829-32831206	MCF10A-Er-Src	breast:	n/a	chr12:32831045-32831056
18	NR3C1	chr12:32830791-32831148	A549	lung:	n/a	n/a
19	GATA3	chr12:32830752-32831250	T-47D	breast:	n/a	chr12:32831031-32831038
20	JUND	chr12:32830864-32831095	HepG2	liver:	n/a	n/a
21	TEAD4	chr12:32830648-32831181	HepG2	liver:	n/a	n/a
22	EP300	chr12:32830836-32831094	Hela-S3	cervix:	n/a	n/a
23	FOS	chr12:32830833-32831174	MCF10A-Er-Src	breast:	n/a	n/a
24	EP300	chr12:32830863-32831132	T-47D	breast:	n/a	n/a
25	CEBPB	chr12:32830608-32831308	A549	lung:	n/a	n/a
26	ARID3A	chr12:32830814-32831267	HepG2	liver:	n/a	n/a
27	SP1	chr12:32830706-32831201	A549	lung:	n/a	chr12:32831152-32831161
28	CEBPB	chr12:32830709-32831113	Hela-S3	cervix:	n/a	n/a
29	FOSL2	chr12:32830801-32831145	SK-N-SH	brain:	n/a	n/a
30	CEBPB	chr12:32830815-32831185	HepG2	liver:	n/a	n/a
31	FOS	chr12:32830836-32831147	MCF10A-Er-Src	breast:	n/a	n/a
32	GATA3	chr12:32830553-32831464	A549	lung:	n/a	chr12:32831031-32831038
33	STAT3	chr12:32830861-32831231	MCF10A-Er-Src	breast:	n/a	chr12:32831045-32831056
34	GATA2	chr12:32830839-32831217	HUVEC	blood vessel:	n/a	chr12:32831031-32831038
35	FOS	chr12:32830813-32831205	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr12:32830860-32831350	MCF10A-Er-Src	breast:	n/a	chr12:32831045-32831056
37	CEBPB	chr12:32830823-32831101	K562	blood:	n/a	n/a
38	FOXA1	chr12:32830858-32831238	T-47D	breast:	n/a	n/a
39	FOSL2	chr12:32830727-32831289	A549	lung:	n/a	n/a
40	HDAC2	chr12:32830755-32831146	HepG2	liver:	n/a	n/a
41	FOXA2	chr12:32830817-32831153	HepG2	liver:	n/a	n/a
42	TCF12	chr12:32830624-32831335	A549	lung:	n/a	chr12:32831048-32831056
43	FOXA1	chr12:32830906-32831153	T-47D	breast:	n/a	n/a
44	CEBPB	chr12:32830732-32831204	MCF-7	breast:	n/a	n/a
45	GTF3C2	chr12:32830309-32831425	Hela-S3	cervix:	n/a	n/a
46	GATA3	chr12:32830753-32831329	SK-N-SH	brain:	n/a	chr12:32831031-32831038
47	ZNF384	chr12:32830829-32831177	K562	blood:	n/a	n/a
48	FOS	chr12:32830823-32831205	MCF10A-Er-Src	breast:	n/a	n/a
49	GATA3	chr12:32830826-32831196	T-47D	breast:	n/a	chr12:32831031-32831038

No.	Distal block	Cell Line	Cell type
1	chr12:32830720..32834017-chr12:32907137..32909476,4	K562	blood:
2	chr12:32830761..32832404-chr12:32856449..32858460,2	K562	blood:
3	chr12:32828853..32831333-chr12:32832241..32833877,2	MCF-7	breast:

Variant related genes	Relation type
DNM1L	TF binding region
ENSG00000139131	Chromatin interaction
ENSG00000087470	Chromatin interaction
ENSG00000201563	Chromatin interaction

Extended variants
information (count: 219 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:216)

rs_ID	r²[population]
rs10082728	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10082887	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10083136	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1020670	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10437792	0.81[AFR][1000 genomes]
rs10771978	1.00[CHD][hapmap]
rs10771979	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771980	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771981	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771982	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771983	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771984	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771988	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10771989	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10844279	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10844284	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844285	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844286	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844287	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844288	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844289	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844290	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844291	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844292	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844293	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844294	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844295	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844296	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844297	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844298	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844299	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844300	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844301	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844302	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844303	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844304	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844305	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844306	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844307	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844308	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844309	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844310	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844311	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844312	0.81[EUR][1000 genomes]
rs10844313	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10844314	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844315	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844316	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844317	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844318	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844319	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844320	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844321	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844322	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844323	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10844324	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844326	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844328	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844329	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844330	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10844331	0.81[EUR][1000 genomes]
rs10844332	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10844333	0.80[ASN][1000 genomes]
rs10844334	0.80[ASN][1000 genomes]
rs10844335	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10844336	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10844337	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.80[ASN][1000 genomes]
rs10844338	0.80[ASN][1000 genomes]
rs10844339	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10844340	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[TSI][hapmap];0.80[ASN][1000 genomes]
rs11052144	0.81[ASN][1000 genomes]
rs11052154	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052155	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052159	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052160	0.92[ASN][1000 genomes]
rs11052161	0.92[ASN][1000 genomes]
rs11052162	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11052163	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11052164	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11052166	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11052167	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052168	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052169	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052170	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052171	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052172	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052173	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052175	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052176	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052177	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11052178	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11052180	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052181	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052182	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052183	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052184	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052185	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052188	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052189	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052191	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052192	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052195	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052196	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052197	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052198	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11052203	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11052205	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11052206	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11052210	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11052211	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11052213	0.80[ASN][1000 genomes]
rs11052214	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11052217	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11502796	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11502797	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11539444	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11539445	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11829276	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11829389	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11829963	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11830934	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11833496	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11833645	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11834855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11837120	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12296459	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12298252	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12307480	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12307536	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12316165	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12319906	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12320877	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12322568	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12369487	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12371996	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13377898	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13377901	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13378050	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1454932	0.84[CHD][hapmap]
rs17541794	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1965538	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1971910	0.82[EUR][1000 genomes]
rs1971911	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.80[ASN][1000 genomes]
rs2030747	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2124150	0.91[CEU][hapmap];1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs2124151	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2272238	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2389082	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28464612	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3200103	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34034589	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809232	0.84[CHD][hapmap]
rs3827883	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4539413	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4641562	0.91[CEU][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56782904	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58298737	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58669264	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60657886	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61328017	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61369285	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61454222	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6488076	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488080	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66512341	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67052927	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67390499	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67580805	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68154285	0.82[EUR][1000 genomes]
rs7135097	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7135691	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7297599	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7298030	0.83[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7300090	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7302970	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[TSI][hapmap];0.83[ASN][1000 genomes]
rs7304930	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7305277	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7305407	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7306406	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs73082827	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73082829	0.90[ASN][1000 genomes]
rs73088891	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73099765	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7310136	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73295979	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74073091	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7952928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954206	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7954322	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7954612	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7955411	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7955582	0.91[CEU][hapmap];1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7957603	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7957841	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[TSI][hapmap];0.80[ASN][1000 genomes]
rs7958074	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7969209	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7969353	0.91[CEU][hapmap];0.80[ASN][1000 genomes]
rs7970914	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7971327	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7971495	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7971644	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7971719	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7971794	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7980752	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7980822	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9738373	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9738377	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs977542	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9971640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971662	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971873	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9971875	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047658	chr12:32792554-32835646	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv541457	chr12:32792554-32835646	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription 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	9 gene(s)	inside rSNPs	diseases
3	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12317270	YARS2	cis	cerebellum	SCAN
rs12317270	DNM1L	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32824800-32831800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:32825600-32831800	Weak transcription	Fetal Thymus	thymus
3	chr12:32825800-32831800	Weak transcription	Adipose Nuclei	Adipose
4	chr12:32826000-32831200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:32826000-32831800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:32826000-32831800	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:32827000-32831800	Enhancers	Placenta	Placenta
8	chr12:32827400-32831800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:32828000-32831800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:32828000-32832000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:32828200-32831800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:32828200-32831800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:32828400-32831800	Weak transcription	Primary B cells from cord blood	blood
14	chr12:32828400-32831800	Weak transcription	GM12878-XiMat	blood
15	chr12:32828400-32832000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:32828600-32831400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:32828600-32831800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:32829000-32831800	Weak transcription	Right Atrium	heart
19	chr12:32829600-32831800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:32829600-32831800	Weak transcription	Colonic Mucosa	Colon
21	chr12:32830000-32831200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:32830200-32831800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:32830400-32831800	Enhancers	Hela-S3	cervix
24	chr12:32830400-32832200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:32830600-32831800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:32830600-32831800	Enhancers	A549	lung
27	chr12:32830600-32831800	Enhancers	HMEC	breast
28	chr12:32830800-32831800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:32830800-32832200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr12:32831000-32831800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:32831000-32831800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:32831000-32831800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:32831000-32831800	Enhancers	Liver	Liver
34	chr12:32831000-32831800	Enhancers	HepG2	liver
35	chr12:32831000-32831800	Enhancers	NHDF-Ad	bronchial
36	chr12:32831000-32831800	Enhancers	NHEK	skin

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Variant report

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