Variant report

Variant	rs4754375
Chromosome Location	chr11:108911437-108911438
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	ATF2	chr11:108910987-108911437	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr11:108911090-108911467	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:108911400-108911550	GM12870	blood:	n/a	n/a
4	ATF2	chr11:108911022-108911451	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr11:108911063-108911522	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr11:108911061-108911455	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr11:108910955-108911502	H1-hESC	embryonic stem cell:	n/a	chr11:108911233-108911246
8	E2F6	chr11:108911059-108911550	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr11:108911009-108911441	HepG2	liver:	n/a	chr11:108911233-108911246
10	RAD21	chr11:108911071-108911470	H1-hESC	embryonic stem cell:	n/a	chr11:108911233-108911246
11	RAD21	chr11:108910814-108911469	SK-N-SH	brain:	n/a	chr11:108911233-108911246

No.	Distal block	Cell Line	Cell type
1	chr11:108905168..108907464-chr11:108909151..108912288,3	K562	blood:
2	chr11:108899961..108902009-chr11:108909481..108912314,2	K562	blood:
3	chr11:108905323..108906917-chr11:108910788..108913428,2	K562	blood:

Variant related genes	Relation type
ENSG00000255528	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10450618	0.87[ASN][1000 genomes]
rs10749932	0.83[ASN][1000 genomes]
rs10749933	0.83[ASN][1000 genomes]
rs10789708	0.82[ASN][1000 genomes]
rs10789709	0.82[ASN][1000 genomes]
rs10890931	0.82[ASN][1000 genomes]
rs10890932	0.82[ASN][1000 genomes]
rs11212855	0.88[ASN][1000 genomes]
rs11212859	0.89[ASN][1000 genomes]
rs12275763	0.88[ASN][1000 genomes]
rs12288802	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1396910	0.83[ASN][1000 genomes]
rs1509710	0.83[ASN][1000 genomes]
rs1912234	0.83[ASN][1000 genomes]
rs1912235	0.83[ASN][1000 genomes]
rs1912236	0.83[ASN][1000 genomes]
rs2136532	0.83[ASN][1000 genomes]
rs2136533	0.83[ASN][1000 genomes]
rs2136534	0.83[ASN][1000 genomes]
rs2175173	0.83[ASN][1000 genomes]
rs4331051	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4365019	0.93[ASN][1000 genomes]
rs4370904	0.80[ASN][1000 genomes]
rs4586113	0.82[ASN][1000 genomes]
rs4753858	0.93[ASN][1000 genomes]
rs4754373	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55773132	0.98[ASN][1000 genomes]
rs6589046	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6589047	0.83[ASN][1000 genomes]
rs66983428	0.95[ASN][1000 genomes]
rs7101901	0.97[ASN][1000 genomes]
rs7126389	0.95[ASN][1000 genomes]
rs7126518	0.83[ASN][1000 genomes]
rs72996766	0.99[ASN][1000 genomes]
rs72996782	0.90[ASN][1000 genomes]
rs7927284	0.83[ASN][1000 genomes]
rs7927428	0.83[ASN][1000 genomes]
rs7930665	0.83[ASN][1000 genomes]
rs7930745	0.83[ASN][1000 genomes]
rs7938927	0.83[ASN][1000 genomes]
rs7942258	0.83[ASN][1000 genomes]
rs7948895	0.82[ASN][1000 genomes]
rs7952458	0.83[ASN][1000 genomes]

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	nsv1040650	chr11:108859584-109174553	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv898390	chr11:108893765-109003536	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1815918	chr11:108900487-108948487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108907400-108917400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108907600-108917200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:108909600-108914600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:108911000-108914600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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