Variant report

Variant	rs72614668
Chromosome Location	chr8:55017097-55017098
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:55013237..55015721-chr8:55016855..55019742,2	MCF-7	breast:
2	chr8:54924177..54926194-chr8:55016876..55019206,2	K562	blood:

Variant related genes	Relation type
ENSG00000120992	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10101097	0.84[ASN][1000 genomes]
rs10113246	0.80[ASN][1000 genomes]
rs1050523	0.81[ASN][1000 genomes]
rs10958396	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11986577	0.80[ASN][1000 genomes]
rs11993367	0.87[ASN][1000 genomes]
rs11994629	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11996128	0.91[EUR][1000 genomes]
rs11996666	0.83[ASN][1000 genomes]
rs11997954	0.83[ASN][1000 genomes]
rs12056381	0.83[ASN][1000 genomes]
rs12114739	0.81[EUR][1000 genomes]
rs12674671	0.83[ASN][1000 genomes]
rs12674895	0.91[EUR][1000 genomes]
rs12679103	0.92[EUR][1000 genomes]
rs12679542	0.81[EUR][1000 genomes]
rs16919782	0.81[EUR][1000 genomes]
rs1828835	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2008122	0.81[EUR][1000 genomes]
rs2037068	0.87[ASN][1000 genomes]
rs2271567	0.93[EUR][1000 genomes]
rs2292589	0.81[EUR][1000 genomes]
rs2292590	0.93[EUR][1000 genomes]
rs2375696	0.91[EUR][1000 genomes]
rs2375697	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28494618	0.83[ASN][1000 genomes]
rs28573859	0.84[EUR][1000 genomes]
rs34168614	0.81[EUR][1000 genomes]
rs34997387	0.86[EUR][1000 genomes]
rs4440612	0.82[ASN][1000 genomes]
rs4506187	0.87[ASN][1000 genomes]
rs4515510	0.83[ASN][1000 genomes]
rs4737457	0.87[ASN][1000 genomes]
rs4737479	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4737485	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4737486	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737487	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737488	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4738519	0.82[ASN][1000 genomes]
rs4738556	0.83[ASN][1000 genomes]
rs4738586	0.82[ASN][1000 genomes]
rs4738678	0.81[EUR][1000 genomes]
rs57872947	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58387069	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58419852	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58929175	0.83[ASN][1000 genomes]
rs58948369	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59882028	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60183530	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61213253	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61271559	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61319412	0.83[ASN][1000 genomes]
rs61477279	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6473900	0.83[ASN][1000 genomes]
rs6473909	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6473911	0.81[EUR][1000 genomes]
rs6473915	0.81[EUR][1000 genomes]
rs6983694	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009781	0.83[ASN][1000 genomes]
rs7011379	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7011430	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72614663	0.83[ASN][1000 genomes]
rs72614664	0.83[ASN][1000 genomes]
rs72614665	0.83[ASN][1000 genomes]
rs72614666	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72614667	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72614670	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72614671	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7463261	0.82[ASN][1000 genomes]
rs7464767	0.82[ASN][1000 genomes]
rs7815216	0.81[ASN][1000 genomes]
rs7830051	0.81[EUR][1000 genomes]
rs7842911	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9298497	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs952194	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643823	0.83[ASN][1000 genomes]
rs9643824	0.82[ASN][1000 genomes]
rs981638	0.97[EUR][1000 genomes];0.90[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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv890921	chr8:54991447-55043802	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv890922	chr8:54994759-55023494	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv890923	chr8:54994759-55049255	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55014000-55018400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:55014800-55017800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:55014800-55018800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:55015000-55018000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:55015000-55018000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:55015000-55018000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:55015000-55018200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:55015000-55018600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:55015000-55018800	Weak transcription	HMEC	breast
10	chr8:55015200-55018000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:55015200-55018200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:55015200-55018200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:55015200-55018200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr8:55015200-55018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:55015200-55018400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:55015200-55018400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:55015200-55018400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:55015200-55018400	Weak transcription	K562	blood
19	chr8:55015200-55018600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:55015200-55018600	Weak transcription	HepG2	liver
21	chr8:55015200-55018800	Weak transcription	NHEK	skin
22	chr8:55015400-55018800	Weak transcription	GM12878-XiMat	blood
23	chr8:55016600-55017200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:55016600-55017200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:55017000-55017200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:55017000-55017200	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links