Variant report

Variant	rs72668442
Chromosome Location	chr8:99925057-99925058
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99904278..99906738-chr8:99922881..99925735,2	K562	blood:
2	chr8:99922248..99926179-chr8:99930900..99934447,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223281	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10504986	1.00[ASN][1000 genomes]
rs10504987	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897111	1.00[ASN][1000 genomes]
rs16897112	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897115	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897117	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897119	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897121	1.00[ASN][1000 genomes]
rs16897122	1.00[ASN][1000 genomes]
rs16897123	1.00[ASN][1000 genomes]
rs16897128	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17374005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55708865	1.00[ASN][1000 genomes]
rs55807423	1.00[ASN][1000 genomes]
rs55878650	1.00[ASN][1000 genomes]
rs55892905	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55899553	1.00[ASN][1000 genomes]
rs55933347	1.00[ASN][1000 genomes]
rs55939044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55999827	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56088337	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56099380	1.00[ASN][1000 genomes]
rs56185259	1.00[ASN][1000 genomes]
rs56285208	1.00[ASN][1000 genomes]
rs56290864	1.00[ASN][1000 genomes]
rs56356780	1.00[ASN][1000 genomes]
rs67954509	1.00[ASN][1000 genomes]
rs6994994	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010279	1.00[ASN][1000 genomes]
rs7012298	1.00[ASN][1000 genomes]
rs7012465	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666673	1.00[ASN][1000 genomes]
rs72666676	1.00[ASN][1000 genomes]
rs72666678	1.00[ASN][1000 genomes]
rs72666680	1.00[ASN][1000 genomes]
rs72666684	1.00[ASN][1000 genomes]
rs72666685	1.00[ASN][1000 genomes]
rs72666688	1.00[ASN][1000 genomes]
rs72666689	1.00[ASN][1000 genomes]
rs72666690	1.00[ASN][1000 genomes]
rs72666699	1.00[ASN][1000 genomes]
rs72668403	1.00[ASN][1000 genomes]
rs72668407	1.00[ASN][1000 genomes]
rs72668412	1.00[ASN][1000 genomes]
rs72668417	1.00[ASN][1000 genomes]
rs72668419	1.00[ASN][1000 genomes]
rs72668423	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668425	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668426	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668428	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668430	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668447	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668453	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668455	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668456	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668457	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668458	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668460	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668461	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72668464	1.00[ASN][1000 genomes]
rs72668467	1.00[ASN][1000 genomes]
rs72668480	1.00[ASN][1000 genomes]
rs72668495	1.00[ASN][1000 genomes]
rs72670210	1.00[ASN][1000 genomes]
rs7817630	1.00[ASN][1000 genomes]
rs7820829	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv6327	chr8:99919634-99964563	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99918800-99926400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:99922800-99925400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:99924400-99927200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:99924600-99925200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr8:99924600-99925400	Enhancers	HMEC	breast
6	chr8:99924600-99925800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:99924600-99925800	Enhancers	A549	lung
8	chr8:99924800-99925200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:99924800-99925400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:99924800-99926800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:99924800-99926800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:99925000-99925800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:99925000-99925800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:99925000-99925800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:99925000-99926800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:99925000-99926800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:99925000-99927000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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