Variant report

Variant	rs10975454
Chromosome Location	chr9:6135411-6135412
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10815349	0.87[ASN][1000 genomes]
rs10815350	0.87[ASN][1000 genomes]
rs10975425	0.82[ASN][1000 genomes]
rs10975426	0.84[ASN][1000 genomes]
rs10975436	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10975437	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10975441	0.87[ASN][1000 genomes]
rs10975446	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10975451	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11526367	0.84[ASN][1000 genomes]
rs11793017	0.82[ASN][1000 genomes]
rs1411341	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2069264	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2095043	0.81[ASN][1000 genomes]
rs2104758	0.84[ASN][1000 genomes]
rs2149980	0.88[ASN][1000 genomes]
rs2183352	0.84[ASN][1000 genomes]
rs376382	0.81[ASN][1000 genomes]
rs386412	0.80[ASN][1000 genomes]
rs409038	0.81[ASN][1000 genomes]
rs448115	0.81[ASN][1000 genomes]
rs4740837	0.87[ASN][1000 genomes]
rs4740839	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs489464	0.80[ASN][1000 genomes]
rs55817693	0.84[ASN][1000 genomes]
rs57993622	0.87[ASN][1000 genomes]
rs6477037	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6477040	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6477041	0.84[ASN][1000 genomes]
rs67217130	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67478282	0.88[ASN][1000 genomes]
rs68075537	0.88[ASN][1000 genomes]
rs694294	0.81[ASN][1000 genomes]
rs7024136	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7024235	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7024340	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7024677	0.85[ASN][1000 genomes]
rs7040888	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7043663	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7048296	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7856231	0.87[ASN][1000 genomes]
rs7869061	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7869064	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7869888	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv613205	chr9:6032924-6332901	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv916394	chr9:6055497-6322471	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv892157	chr9:6093790-6322415	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv933124	chr9:6099101-6644738	Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv831496	chr9:6101763-6285088	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr9:6132800-6135800	Enhancers	Hela-S3	cervix
2	chr9:6133200-6135600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:6133200-6135600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:6133200-6135600	Enhancers	NHEK	skin
5	chr9:6135400-6135800	Active TSS	K562	blood
6	chr9:6135400-6136000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr9:6135400-6136200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr9:6135400-6136200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr9:6135400-6136200	Active TSS	HUES6 Cell Line	embryonic stem cell

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