Variant report

Variant	rs4144318
Chromosome Location	chr2:72745682-72745683
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	EP300	chr2:72744985-72745985	A549	lung:	n/a	n/a
2	ARID3A	chr2:72744986-72745715	HepG2	liver:	n/a	n/a
3	FOXA1	chr2:72744962-72745786	HepG2	liver:	n/a	n/a
4	TCF12	chr2:72744908-72745952	A549	lung:	n/a	n/a
5	SP1	chr2:72744959-72745951	A549	lung:	n/a	n/a
6	POLR2A	chr2:72745397-72745775	H1-neurons	neurons:	n/a	n/a
7	EP300	chr2:72745459-72745875	SK-N-SH_RA	brain:	n/a	n/a
8	JUND	chr2:72745586-72745876	K562	blood:	n/a	n/a
9	EP300	chr2:72745517-72745876	SK-N-SH_RA	brain:	n/a	n/a
10	PBX3	chr2:72745459-72745947	SK-N-SH	brain:	n/a	n/a
11	FOSL2	chr2:72745250-72745987	A549	lung:	n/a	chr2:72745498-72745507

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72744464..72746896-chr2:72747784..72749596,2	K562	blood:
2	chr2:72734670..72737032-chr2:72745367..72747114,2	MCF-7	breast:

Variant related genes	Relation type
EXOC6B	TF binding region

Extended variants
information (count: 159 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs10181651	1.00[ASN][1000 genomes]
rs10183056	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186080	1.00[ASN][1000 genomes]
rs10190674	1.00[ASN][1000 genomes]
rs10203965	1.00[ASN][1000 genomes]
rs10206555	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10460572	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496186	1.00[ASN][1000 genomes]
rs10865391	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865392	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126370	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126371	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126372	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126373	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11126374	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684985	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052508	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12471136	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471875	1.00[ASN][1000 genomes]
rs12476130	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12476397	1.00[ASN][1000 genomes]
rs12618390	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713772	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713773	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713774	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996406	1.00[ASN][1000 genomes]
rs12998681	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008041	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13008258	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13016873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383535	1.00[ASN][1000 genomes]
rs13409513	1.00[ASN][1000 genomes]
rs13424607	1.00[ASN][1000 genomes]
rs1400580	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1400582	1.00[ASN][1000 genomes]
rs1446888	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446889	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446890	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446891	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446892	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446893	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446895	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568145	1.00[ASN][1000 genomes]
rs1711838	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992799	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995734	1.00[ASN][1000 genomes]
rs2048171	1.00[ASN][1000 genomes]
rs2138683	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420565	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3106879	1.00[ASN][1000 genomes]
rs3106880	1.00[ASN][1000 genomes]
rs34127669	1.00[ASN][1000 genomes]
rs4407272	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852291	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852292	0.86[EUR][1000 genomes]
rs4852293	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852294	1.00[ASN][1000 genomes]
rs4852298	1.00[ASN][1000 genomes]
rs4852872	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852875	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852876	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852877	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852878	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4852880	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581976	1.00[ASN][1000 genomes]
rs583673	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585653	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585938	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587431	1.00[ASN][1000 genomes]
rs59095814	1.00[ASN][1000 genomes]
rs597799	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598547	1.00[ASN][1000 genomes]
rs602465	1.00[ASN][1000 genomes]
rs603324	1.00[ASN][1000 genomes]
rs613880	1.00[ASN][1000 genomes]
rs614653	1.00[ASN][1000 genomes]
rs619343	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62149275	1.00[ASN][1000 genomes]
rs62149282	1.00[ASN][1000 genomes]
rs623095	1.00[ASN][1000 genomes]
rs625434	1.00[ASN][1000 genomes]
rs631550	1.00[ASN][1000 genomes]
rs632670	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs634476	1.00[ASN][1000 genomes]
rs634574	1.00[ASN][1000 genomes]
rs634785	1.00[ASN][1000 genomes]
rs634929	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs636319	1.00[ASN][1000 genomes]
rs636332	1.00[ASN][1000 genomes]
rs636734	1.00[ASN][1000 genomes]
rs641123	1.00[ASN][1000 genomes]
rs642847	1.00[ASN][1000 genomes]
rs645489	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646357	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647269	1.00[ASN][1000 genomes]
rs650352	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653842	1.00[ASN][1000 genomes]
rs654157	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546757	1.00[ASN][1000 genomes]
rs6546758	1.00[ASN][1000 genomes]
rs6546765	1.00[ASN][1000 genomes]
rs6546776	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546777	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546778	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546779	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546782	1.00[ASN][1000 genomes]
rs6546783	1.00[ASN][1000 genomes]
rs656370	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656440	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs658067	1.00[ASN][1000 genomes]
rs661395	1.00[ASN][1000 genomes]
rs664652	1.00[ASN][1000 genomes]
rs666361	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs669074	1.00[ASN][1000 genomes]
rs6707435	1.00[ASN][1000 genomes]
rs6711257	1.00[ASN][1000 genomes]
rs6714580	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671550	1.00[ASN][1000 genomes]
rs671721	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6736305	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741956	1.00[ASN][1000 genomes]
rs6742088	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742312	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747378	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674863	1.00[ASN][1000 genomes]
rs6750766	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761075	0.87[EUR][1000 genomes]
rs678684	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs680380	1.00[ASN][1000 genomes]
rs681574	1.00[ASN][1000 genomes]
rs681908	1.00[ASN][1000 genomes]
rs683328	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684673	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687325	1.00[ASN][1000 genomes]
rs687371	1.00[ASN][1000 genomes]
rs688433	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7420391	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560529	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560599	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565198	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571064	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580268	1.00[ASN][1000 genomes]
rs7584538	1.00[ASN][1000 genomes]
rs7591025	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591303	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598238	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601020	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601318	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603797	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603966	1.00[ASN][1000 genomes]
rs983928	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990569	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72703400-72752200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:72736600-72751000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:72741400-72760600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:72742800-72745800	Enhancers	Fetal Heart	heart
5	chr2:72744400-72745800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:72744400-72750000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:72744400-72750200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:72744400-72751800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:72744600-72745800	Enhancers	Liver	Liver
10	chr2:72744600-72751000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:72745000-72745800	Enhancers	Fetal Intestine Large	intestine
12	chr2:72745000-72746000	Flanking Active TSS	A549	lung
13	chr2:72745000-72746200	Enhancers	HepG2	liver
14	chr2:72745000-72746600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:72745200-72751400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:72745400-72746000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:72745600-72745800	Enhancers	Ovary	ovary
18	chr2:72745600-72746000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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