Variant report

Variant	rs2237053
Chromosome Location	chr4:110911080-110911081
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	POLR2A	chr4:110910147-110911131	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr4:110910374-110911094	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr4:110910399-110911179	SK-N-SH	brain:	n/a	n/a
4	MYC	chr4:110910204-110911100	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr4:110910061-110911150	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110910332..110912900-chr4:111091767..111093737,2	K562	blood:
2	chr4:110905512..110907567-chr4:110910504..110912580,2	K562	blood:

Variant related genes	Relation type
RNU6-35P	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10017564	0.82[CHB][hapmap];0.82[AMR][1000 genomes]
rs10021157	0.82[CHB][hapmap]
rs10021804	0.82[AMR][1000 genomes]
rs10857004	0.84[CHB][hapmap]
rs11098057	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11568904	0.81[AMR][1000 genomes]
rs11569104	0.84[CHB][hapmap]
rs12506702	0.81[AMR][1000 genomes]
rs12510173	0.89[CHB][hapmap];0.82[AMR][1000 genomes]
rs1860129	0.80[CEU][hapmap];0.86[AMR][1000 genomes]
rs2074390	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074392	0.84[CHB][hapmap]
rs2190907	0.85[AMR][1000 genomes]
rs2237049	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237051	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2237052	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282784	0.83[AMR][1000 genomes]
rs2298983	0.83[AMR][1000 genomes]
rs2298989	0.93[AMR][1000 genomes]
rs2298991	0.90[AMR][1000 genomes]
rs2298992	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2298993	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2298999	0.80[CEU][hapmap];0.84[YRI][hapmap]
rs2347137	0.82[AMR][1000 genomes]
rs28471982	0.81[AMR][1000 genomes]
rs2881559	0.83[CHB][hapmap]
rs3733626	0.84[CHB][hapmap]
rs3796944	0.82[CHB][hapmap];0.83[AMR][1000 genomes]
rs3796948	0.83[AMR][1000 genomes]
rs6533482	0.83[AMR][1000 genomes]
rs6533483	0.87[AMR][1000 genomes]
rs6533485	0.81[AMR][1000 genomes]
rs6824594	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7692976	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs882405	0.83[AMR][1000 genomes]
rs882471	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs929446	0.80[CEU][hapmap];0.85[AMR][1000 genomes]
rs971695	0.84[CHB][hapmap]
rs971696	0.84[CHB][hapmap]

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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110895000-110928600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:110901000-110929600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:110901400-110920800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:110903200-110911400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:110906800-110920800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:110907000-110932400	Weak transcription	Psoas Muscle	Psoas
7	chr4:110907800-110927400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:110908600-110916200	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:110909600-110911200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr4:110909600-110912000	Enhancers	HMEC	breast
11	chr4:110909600-110913800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr4:110909800-110911600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:110910200-110911600	Weak transcription	Esophagus	oesophagus
14	chr4:110910200-110920400	Weak transcription	Fetal Intestine Small	intestine
15	chr4:110910400-110935200	Weak transcription	Pancreas	Pancrea
16	chr4:110910600-110911200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:110910600-110929800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:110910800-110911400	Enhancers	GM12878-XiMat	blood
19	chr4:110910800-110926800	Weak transcription	Fetal Heart	heart
20	chr4:110911000-110911800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:110911000-110912000	Enhancers	NHEK	skin

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