Variant report

Variant	rs7128380
Chromosome Location	chr11:34419819-34419820
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34417375..34420835-chr11:34422366..34425189,3	K562	blood:
2	chr11:34417920..34420835-chr11:34423610..34425189,2	K562	blood:
3	chr11:34418166..34421088-chr11:34425420..34427694,2	K562	blood:

Variant related genes	Relation type
ENSG00000220204	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10768070	0.82[CHB][hapmap]
rs10768074	0.85[ASN][1000 genomes]
rs10836186	1.00[CEU][hapmap]
rs10836210	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10836212	0.90[ASN][1000 genomes]
rs10836213	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10836214	1.00[CHD][hapmap];0.90[ASN][1000 genomes]
rs10836219	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10836220	0.94[CHB][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10836221	0.89[CHB][hapmap];0.88[JPT][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10836226	0.85[ASN][1000 genomes]
rs10836227	0.85[ASN][1000 genomes]
rs10836228	0.85[ASN][1000 genomes]
rs10836233	0.80[CHD][hapmap];1.00[GIH][hapmap]
rs11032650	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11032677	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11032685	0.85[ASN][1000 genomes]
rs11032686	0.85[ASN][1000 genomes]
rs11032687	0.85[ASN][1000 genomes]
rs11032688	0.85[ASN][1000 genomes]
rs11032689	0.81[ASN][1000 genomes]
rs11032690	0.85[ASN][1000 genomes]
rs11032691	0.85[ASN][1000 genomes]
rs11032692	0.85[ASN][1000 genomes]
rs11032693	0.83[ASN][1000 genomes]
rs11032694	0.83[ASN][1000 genomes]
rs11605706	0.87[ASN][1000 genomes]
rs12276378	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12277763	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12285367	0.85[ASN][1000 genomes]
rs12289239	1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.81[YRI][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12292102	0.85[ASN][1000 genomes]
rs12708346	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12786782	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12795248	0.90[CHB][hapmap]
rs12802066	0.85[ASN][1000 genomes]
rs1408034	0.86[CHD][hapmap];1.00[GIH][hapmap]
rs1408036	0.86[CHD][hapmap];1.00[GIH][hapmap]
rs1408038	0.85[ASN][1000 genomes]
rs1408039	0.85[ASN][1000 genomes]
rs1408040	0.85[ASN][1000 genomes]
rs34682777	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5028597	0.87[EUR][1000 genomes]
rs60077297	0.84[ASN][1000 genomes]
rs61447308	0.85[ASN][1000 genomes]
rs6484720	1.00[GIH][hapmap]
rs7111687	0.81[ASN][1000 genomes]
rs7111765	0.83[CHD][hapmap];1.00[GIH][hapmap];0.83[ASN][1000 genomes]
rs7111903	0.81[ASN][1000 genomes]
rs7115206	0.81[ASN][1000 genomes]
rs7131473	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7928368	1.00[CHD][hapmap];0.90[ASN][1000 genomes]
rs7928635	0.90[ASN][1000 genomes]
rs7929333	0.85[ASN][1000 genomes]
rs7929460	0.81[ASN][1000 genomes]
rs7929574	0.85[ASN][1000 genomes]
rs7929828	1.00[CEU][hapmap]
rs7929899	0.85[ASN][1000 genomes]
rs7929931	0.85[ASN][1000 genomes]
rs7929952	0.85[ASN][1000 genomes]
rs7930070	0.85[ASN][1000 genomes]
rs7944397	0.80[CHD][hapmap]
rs7947841	0.86[CHD][hapmap];1.00[GIH][hapmap]
rs9651597	0.96[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv983151	chr11:34401342-34444667	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34418600-34421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:34418800-34420200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:34419000-34421000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:34419000-34428600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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