Variant report

Variant	rs9995478
Chromosome Location	chr4:99867464-99867465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99853484..99855630-chr4:99865646..99867921,2	K562	blood:
2	chr4:99866310..99868814-chr4:99873787..99876130,2	MCF-7	breast:
3	chr4:99866739..99868357-chr4:99870611..99872166,2	K562	blood:
4	chr4:99849207..99850858-chr4:99867118..99869087,2	K562	blood:

Variant related genes	Relation type
ENSG00000151247	Chromatin interaction
ENSG00000263923	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10007957	0.92[ASN][1000 genomes]
rs10008093	0.92[ASN][1000 genomes]
rs10010610	0.88[ASN][1000 genomes]
rs10011791	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10019506	0.94[ASN][1000 genomes]
rs10020687	0.91[ASN][1000 genomes]
rs10022521	0.94[ASN][1000 genomes]
rs10032966	0.88[ASN][1000 genomes]
rs10212891	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036946	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10433891	0.90[ASN][1000 genomes]
rs10433976	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10461135	0.92[ASN][1000 genomes]
rs10470955	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10516437	0.88[ASN][1000 genomes]
rs11725932	0.88[ASN][1000 genomes]
rs11728783	0.88[ASN][1000 genomes]
rs11737130	0.87[ASN][1000 genomes]
rs11737186	0.87[ASN][1000 genomes]
rs1230147	0.98[ASN][1000 genomes]
rs1230149	0.99[ASN][1000 genomes]
rs1230150	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1230152	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230189	0.89[ASN][1000 genomes]
rs17028238	0.92[ASN][1000 genomes]
rs17028241	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17028244	0.92[ASN][1000 genomes]
rs17028293	0.93[ASN][1000 genomes]
rs17550514	0.92[ASN][1000 genomes]
rs2602889	0.93[ASN][1000 genomes]
rs28367437	0.94[ASN][1000 genomes]
rs28376834	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28430857	0.89[ASN][1000 genomes]
rs28473608	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28499420	0.90[ASN][1000 genomes]
rs28529446	0.90[ASN][1000 genomes]
rs28575093	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28577966	0.89[ASN][1000 genomes]
rs28589528	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28613604	0.89[ASN][1000 genomes]
rs28622595	0.99[ASN][1000 genomes]
rs28633499	0.92[ASN][1000 genomes]
rs3133161	0.98[ASN][1000 genomes]
rs35447189	0.99[ASN][1000 genomes]
rs4699370	0.90[ASN][1000 genomes]
rs60120090	0.92[ASN][1000 genomes]
rs60658326	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6532774	0.92[ASN][1000 genomes]
rs6815444	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6830125	0.90[ASN][1000 genomes]
rs6841295	0.89[ASN][1000 genomes]
rs6846266	0.89[ASN][1000 genomes]
rs6846475	0.88[ASN][1000 genomes]
rs72677504	0.92[ASN][1000 genomes]
rs72692622	0.90[ASN][1000 genomes]
rs7660937	0.91[ASN][1000 genomes]
rs7661487	0.93[ASN][1000 genomes]
rs7664964	0.89[ASN][1000 genomes]
rs7666015	1.00[ASN][1000 genomes]
rs7671306	0.90[ASN][1000 genomes]
rs7671453	0.90[ASN][1000 genomes]
rs7674319	0.89[ASN][1000 genomes]
rs7676504	0.90[ASN][1000 genomes]
rs7679685	0.99[ASN][1000 genomes]
rs7684964	0.90[ASN][1000 genomes]
rs7696573	0.89[ASN][1000 genomes]
rs7696584	0.89[ASN][1000 genomes]
rs7697071	0.89[ASN][1000 genomes]
rs9332467	0.89[ASN][1000 genomes]
rs994636	0.90[ASN][1000 genomes]
rs9996959	0.93[ASN][1000 genomes]
rs9999702	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99866000-99867600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr4:99866200-99867600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:99866200-99870000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:99867200-99867600	Enhancers	NHEK	skin
5	chr4:99867200-99867800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:99867200-99868000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:99867400-99867800	Enhancers	A549	lung

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