Variant report

Variant	rs245156
Chromosome Location	chr5:127245143-127245144
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127213531..127214118-chr5:127244516..127245280,2	MCF-7	breast:
2	chr5:127241157..127248623-chr5:127417759..127421019,7	MCF-7	breast:
3	chr5:127233004..127236913-chr5:127245054..127247507,3	MCF-7	breast:
4	chr5:127244288..127247153-chr5:127255192..127259002,3	MCF-7	breast:
5	chr5:127244870..127247322-chr5:127418600..127421398,4	MCF-7	breast:
6	chr5:127219412..127221913-chr5:127243574..127245487,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10042555	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10058856	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs111941	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs111942	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs122730	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs122731	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs122734	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12332194	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12332385	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12332386	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12332552	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1421748	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1421749	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1421750	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1421751	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151853	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151855	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151856	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151858	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs151859	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs151882	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs1520247	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173444	0.92[ASN][1000 genomes]
rs187381	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193495	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2006195	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2108653	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2409033	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245158	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245160	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245167	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs245172	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245173	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245174	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs245175	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs245181	0.88[CEU][hapmap]
rs245186	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs245192	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs245195	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs245221	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs245237	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2544779	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2544780	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2681512	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2764766	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.92[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127243600-127246400	Enhancers	A549	lung
2	chr5:127244400-127247200	Enhancers	Stomach Mucosa	stomach
3	chr5:127244600-127245400	Enhancers	Brain Hippocampus Middle	brain
4	chr5:127244600-127246400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:127244600-127247800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr5:127244800-127245200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr5:127244800-127246000	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr5:127244800-127246200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:127244800-127247000	Enhancers	HUVEC	blood vessel

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