Variant report

Variant	rs2120243
Chromosome Location	chr3:157147568-157147569
allele	A/C
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	CEBPB	chr3:157147537-157147805	IMR90	lung:	n/a	n/a
2	FOS	chr3:157147562-157147886	MCF10A-Er-Src	breast:	n/a	chr3:157147730-157147741
3	STAT3	chr3:157147549-157147807	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr3:157147556-157147894	MCF10A-Er-Src	breast:	n/a	chr3:157147730-157147741

Variant related genes	Relation type
VEPH1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10936090	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1840680	0.82[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1869857	0.80[JPT][hapmap]
rs2305619	1.00[CHB][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2316706	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2316708	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2316709	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2316710	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28638274	0.80[JPT][hapmap]
rs2873258	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7609926	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7615621	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7616177	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7626884	0.87[AMR][1000 genomes]
rs7648322	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9289982	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9681270	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9868133	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757900	chr3:157090166-157254684	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759193	chr3:157090166-157254684	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157139000-157154600	Weak transcription	Lung	lung
2	chr3:157141400-157154200	Weak transcription	NH-A	brain
3	chr3:157142800-157154200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:157143800-157154000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:157144200-157154000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:157145400-157154600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:157145800-157154200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:157146000-157147800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:157146000-157147800	Enhancers	Primary hematopoietic stem cells	blood
10	chr3:157146000-157148200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr3:157146000-157148400	Enhancers	NHDF-Ad	bronchial
12	chr3:157146200-157147600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:157146200-157148200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:157146200-157148400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:157146400-157147600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:157146400-157148000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:157146600-157147800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:157146600-157148600	Enhancers	HUVEC	blood vessel
19	chr3:157146800-157148000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:157146800-157148200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr3:157147000-157147600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:157147000-157147800	Enhancers	HSMM	muscle
23	chr3:157147000-157148400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr3:157147200-157147600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:157147200-157147600	Weak transcription	Fetal Brain Female	brain
26	chr3:157147200-157147800	Enhancers	Osteobl	bone

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