Variant report

Variant	rs4609174
Chromosome Location	chr8:103440763-103440764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103435300..103437498-chr8:103439905..103442249,2	K562	blood:
2	chr8:103438828..103441825-chr8:103444770..103446415,2	K562	blood:
3	chr8:103423711..103427199-chr8:103440627..103442250,3	K562	blood:
4	chr8:103439421..103441100-chr8:103448054..103450571,2	MCF-7	breast:
5	chr8:103423416..103425186-chr8:103439057..103441485,2	MCF-7	breast:
6	chr8:103422249..103427924-chr8:103438177..103442198,4	K562	blood:

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10505028	0.82[CHB][hapmap]
rs12114277	0.81[CHD][hapmap]
rs13248227	0.89[CHD][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs13256348	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13266369	0.83[ASN][1000 genomes]
rs13269273	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs13270182	0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs13281324	0.83[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs16869377	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs16869423	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs2293983	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs2607663	0.86[JPT][hapmap]
rs2853232	0.86[JPT][hapmap]
rs2853236	0.86[JPT][hapmap]
rs34300781	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs34620785	0.90[ASN][1000 genomes]
rs35065885	0.89[ASN][1000 genomes]
rs3736653	0.82[CHB][hapmap];0.88[CHD][hapmap]
rs4269511	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs4495397	0.87[JPT][hapmap]
rs4621773	0.91[ASN][1000 genomes]
rs4734619	0.87[JPT][hapmap]
rs4734621	0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58177193	0.80[ASN][1000 genomes]
rs62523109	0.80[ASN][1000 genomes]
rs62523127	0.93[ASN][1000 genomes]
rs62523140	0.83[ASN][1000 genomes]
rs62523142	0.81[ASN][1000 genomes]
rs71209870	0.92[ASN][1000 genomes]
rs7823262	0.93[ASN][1000 genomes]
rs7827839	0.81[CHD][hapmap]
rs7844250	0.88[ASN][1000 genomes]
rs9642790	0.92[ASN][1000 genomes]
rs9693239	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9694458	0.82[ASN][1000 genomes]
rs9773443	0.88[ASW][hapmap];0.96[LWK][hapmap];0.96[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv831412	chr8:103337196-103536397	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1023938	chr8:103369215-103538708	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103430600-103444400	Weak transcription	GM12878-XiMat	blood
2	chr8:103438600-103449200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:103440400-103442600	Weak transcription	HepG2	liver
4	chr8:103440400-103447000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:103440600-103442000	Weak transcription	K562	blood
6	chr8:103440600-103447000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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