Variant report

Variant	rs12064129
Chromosome Location	chr1:159146930-159146931
allele	G/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	REST	chr1:159146821-159147659	K562	blood:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
2	REST	chr1:159146853-159147677	PFSK-1	brain:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
3	REST	chr1:159146822-159147637	H1-neurons	neurons:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
4	REST	chr1:159146692-159147793	PFSK-1	brain:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
5	RCOR1	chr1:159146905-159147527	IMR90	lung:	n/a	n/a
6	REST	chr1:159146880-159147676	MCF-7	breast:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
7	REST	chr1:159146916-159147624	Hela-S3	cervix:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
8	SIN3AK20	chr1:159146867-159147432	MCF-7	breast:	n/a	n/a
9	REST	chr1:159146712-159147887	ECC-1	luminal epithelium:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
10	REST	chr1:159146642-159147774	Hela-S3	cervix:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
11	SREBP1	chr1:159146819-159147708	GM12878	blood:	n/a	n/a
12	REST	chr1:159146872-159147608	U87	brain:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
13	REST	chr1:159146806-159147694	PANC-1	pancreas:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
14	REST	chr1:159146841-159147705	GM12878	blood:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
15	REST	chr1:159146726-159147873	ECC-1	luminal epithelium:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
16	REST	chr1:159146874-159147606	U87	brain:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
17	REST	chr1:159146926-159147615	H1-hESC	embryonic stem cell:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
18	REST	chr1:159146918-159147645	PANC-1	pancreas:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
19	REST	chr1:159146809-159147645	SK-N-SH	brain:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
20	REST	chr1:159146211-159148081	HL-60	blood:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
21	REST	chr1:159146845-159147700	HCT-116	colon:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
22	REST	chr1:159146686-159147739	HL-60	blood:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
23	REST	chr1:159146621-159148113	A549	lung:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
24	REST	chr1:159146824-159147636	HepG2	liver:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303
25	REST	chr1:159146553-159147866	MCF-7	breast:	n/a	chr1:159147239-159147259 chr1:159147289-159147309 chr1:159147240-159147258 chr1:159147242-159147255 chr1:159147289-159147309 chr1:159147292-159147305 chr1:159147245-159147259 chr1:159147244-159147253 chr1:159147239-159147259 chr1:159147294-159147303

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159144589..159147038-chr1:159152524..159154335,2	K562	blood:
2	chr1:159146395..159148163-chr1:159149908..159151548,2	K562	blood:

Variant related genes	Relation type
RNA5SP60	TF binding region

rs_ID	r²[population]
rs10047107	1.00[EUR][1000 genomes]
rs10437336	1.00[EUR][1000 genomes]
rs10437337	1.00[EUR][1000 genomes]
rs10489847	1.00[EUR][1000 genomes]
rs10489850	1.00[EUR][1000 genomes]
rs10489851	1.00[EUR][1000 genomes]
rs10489852	1.00[EUR][1000 genomes]
rs10489853	1.00[EUR][1000 genomes]
rs1102017	1.00[EUR][1000 genomes]
rs11265145	1.00[EUR][1000 genomes]
rs11265147	1.00[EUR][1000 genomes]
rs11265148	1.00[EUR][1000 genomes]
rs11265151	1.00[EUR][1000 genomes]
rs11265153	1.00[EUR][1000 genomes]
rs11265167	1.00[EUR][1000 genomes]
rs12057331	1.00[EUR][1000 genomes]
rs12060241	1.00[EUR][1000 genomes]
rs12062367	1.00[EUR][1000 genomes]
rs12063682	1.00[EUR][1000 genomes]
rs12063973	1.00[EUR][1000 genomes]
rs12064962	1.00[EUR][1000 genomes]
rs12067678	1.00[EUR][1000 genomes]
rs12068030	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12068651	1.00[EUR][1000 genomes]
rs12074418	1.00[EUR][1000 genomes]
rs12074452	1.00[EUR][1000 genomes]
rs12074934	1.00[EUR][1000 genomes]
rs12078114	1.00[EUR][1000 genomes]
rs12078168	1.00[EUR][1000 genomes]
rs12079229	1.00[EUR][1000 genomes]
rs12079235	1.00[EUR][1000 genomes]
rs12082893	1.00[EUR][1000 genomes]
rs12085001	1.00[EUR][1000 genomes]
rs12085085	1.00[EUR][1000 genomes]
rs12085686	1.00[EUR][1000 genomes]
rs12086637	1.00[EUR][1000 genomes]
rs12086871	1.00[EUR][1000 genomes]
rs12087366	1.00[EUR][1000 genomes]
rs12095599	1.00[EUR][1000 genomes]
rs12096257	1.00[EUR][1000 genomes]
rs13374880	1.00[EUR][1000 genomes]
rs1341409	1.00[EUR][1000 genomes]
rs1612810	1.00[EUR][1000 genomes]
rs1612844	1.00[EUR][1000 genomes]
rs1616270	1.00[EUR][1000 genomes]
rs1626284	1.00[EUR][1000 genomes]
rs1629682	1.00[EUR][1000 genomes]
rs1629702	1.00[EUR][1000 genomes]
rs1631448	1.00[EUR][1000 genomes]
rs1633293	1.00[EUR][1000 genomes]
rs1633296	1.00[EUR][1000 genomes]
rs1633298	1.00[EUR][1000 genomes]
rs16841729	1.00[EUR][1000 genomes]
rs16841784	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16841789	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16841937	1.00[EUR][1000 genomes]
rs16841970	1.00[EUR][1000 genomes]
rs16842041	1.00[EUR][1000 genomes]
rs1772439	1.00[EUR][1000 genomes]
rs1772441	1.00[EUR][1000 genomes]
rs1772442	1.00[EUR][1000 genomes]
rs1772444	1.00[EUR][1000 genomes]
rs2325923	1.00[EUR][1000 genomes]
rs2325925	1.00[EUR][1000 genomes]
rs2325927	1.00[EUR][1000 genomes]
rs2746042	1.00[EUR][1000 genomes]
rs28537540	1.00[EUR][1000 genomes]
rs3026944	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3026947	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3026970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3026984	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3027040	1.00[EUR][1000 genomes]
rs3027041	1.00[EUR][1000 genomes]
rs3027046	1.00[EUR][1000 genomes]
rs3027047	1.00[EUR][1000 genomes]
rs3027050	1.00[EUR][1000 genomes]
rs3027057	1.00[EUR][1000 genomes]
rs3027066	1.00[EUR][1000 genomes]
rs34152791	1.00[EUR][1000 genomes]
rs34870435	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35122728	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36103299	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36160848	1.00[EUR][1000 genomes]
rs3893415	1.00[EUR][1000 genomes]
rs4255380	1.00[EUR][1000 genomes]
rs4534374	1.00[EUR][1000 genomes]
rs4568831	1.00[EUR][1000 genomes]
rs56113018	1.00[EUR][1000 genomes]
rs59437380	1.00[EUR][1000 genomes]
rs6656586	1.00[EUR][1000 genomes]
rs6670082	1.00[EUR][1000 genomes]
rs6670592	1.00[EUR][1000 genomes]
rs6670703	1.00[EUR][1000 genomes]
rs6673514	1.00[EUR][1000 genomes]
rs6695631	1.00[EUR][1000 genomes]
rs6696230	1.00[EUR][1000 genomes]
rs73023773	1.00[EUR][1000 genomes]
rs73023775	1.00[EUR][1000 genomes]
rs73027932	1.00[EUR][1000 genomes]
rs74122265	1.00[EUR][1000 genomes]
rs7515532	1.00[EUR][1000 genomes]
rs7552141	1.00[EUR][1000 genomes]
rs856059	1.00[EUR][1000 genomes]
rs856060	1.00[EUR][1000 genomes]
rs856061	1.00[EUR][1000 genomes]
rs856062	1.00[EUR][1000 genomes]
rs856063	1.00[EUR][1000 genomes]
rs856065	1.00[EUR][1000 genomes]
rs856069	1.00[EUR][1000 genomes]
rs856075	1.00[EUR][1000 genomes]
rs856076	1.00[EUR][1000 genomes]
rs856078	1.00[EUR][1000 genomes]
rs856128	1.00[EUR][1000 genomes]
rs856130	1.00[EUR][1000 genomes]
rs856137	1.00[EUR][1000 genomes]
rs856138	1.00[EUR][1000 genomes]
rs856139	1.00[EUR][1000 genomes]
rs856144	1.00[EUR][1000 genomes]
rs856145	1.00[EUR][1000 genomes]
rs856147	1.00[EUR][1000 genomes]
rs856148	1.00[EUR][1000 genomes]
rs864439	1.00[EUR][1000 genomes]

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159143000-159156800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:159143200-159155600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:159143400-159150200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:159143400-159151600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:159143600-159155800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:159143600-159157600	Weak transcription	Placenta	Placenta
7	chr1:159144000-159154200	Weak transcription	Brain Germinal Matrix	brain
8	chr1:159145000-159150600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:159145000-159157400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:159145200-159148800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:159145800-159148600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:159145800-159154800	Weak transcription	Brain Anterior Caudate	brain
13	chr1:159146000-159147000	Weak transcription	Fetal Brain Male	brain
14	chr1:159146400-159147000	Strong transcription	Fetal Brain Female	brain

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