Variant report

Variant	rs10050810
Chromosome Location	chr5:167148133-167148134
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	RCOR1	chr5:167147164-167148215	IMR90	lung:	n/a	n/a
2	CEBPB	chr5:167147843-167148198	IMR90	lung:	n/a	chr5:167148035-167148046

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:167145648..167148194-chr5:167148598..167150135,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253357	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10057680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10079574	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs10516037	0.89[CHB][hapmap];0.80[CHD][hapmap];0.94[JPT][hapmap]
rs12187148	0.84[JPT][hapmap]
rs2337015	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2337019	0.87[CEU][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs4401595	0.88[CEU][hapmap];0.83[GIH][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes]
rs6555767	1.00[CEU][hapmap];0.84[CHB][hapmap];0.96[GIH][hapmap];0.81[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67298145	0.83[EUR][1000 genomes]
rs72830091	0.85[EUR][1000 genomes]
rs73801363	0.86[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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167140800-167150200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:167143200-167148400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:167143400-167152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:167143400-167156000	Weak transcription	NH-A	brain
5	chr5:167144200-167148400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:167145200-167149000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:167145200-167149000	Weak transcription	NHEK	skin
8	chr5:167145200-167149200	Weak transcription	HMEC	breast
9	chr5:167145400-167148400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:167145400-167152400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:167145600-167149000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:167146800-167150800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:167147200-167148200	Enhancers	HSMM	muscle
14	chr5:167147200-167148200	Enhancers	Osteobl	bone
15	chr5:167147200-167148600	Enhancers	NHDF-Ad	bronchial
16	chr5:167147400-167148200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:167147400-167148600	Enhancers	Brain Anterior Caudate	brain
18	chr5:167147600-167148800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:167147600-167150200	Weak transcription	HSMMtube	muscle
20	chr5:167147800-167148200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:167147800-167148600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:167148000-167148200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:167148000-167148800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:167148000-167150000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:167148000-167150000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:167148000-167150000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:167148000-167152400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:167148000-167152400	Weak transcription	Fetal Lung	lung
29	chr5:167148000-167152800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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