Variant report

Variant	rs6968595
Chromosome Location	chr7:124883907-124883908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10240611	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12531708	0.97[ASN][1000 genomes]
rs12534920	0.98[ASN][1000 genomes]
rs12535063	0.93[ASN][1000 genomes]
rs12539545	0.98[ASN][1000 genomes]
rs1454124	0.95[ASN][1000 genomes]
rs17148021	0.97[ASN][1000 genomes]
rs17148035	1.00[ASN][1000 genomes]
rs28402853	0.93[ASN][1000 genomes]
rs34974782	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847093	0.98[ASN][1000 genomes]
rs58160159	0.98[ASN][1000 genomes]
rs60486828	0.93[ASN][1000 genomes]
rs6466995	0.93[ASN][1000 genomes]
rs6947036	1.00[ASN][1000 genomes]
rs6954295	0.93[ASN][1000 genomes]
rs6955284	1.00[ASN][1000 genomes]
rs715937	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73438500	0.95[ASN][1000 genomes]
rs73440504	0.95[ASN][1000 genomes]
rs73440522	0.98[ASN][1000 genomes]
rs73440528	0.96[ASN][1000 genomes]
rs73440532	0.98[ASN][1000 genomes]
rs73440534	0.98[ASN][1000 genomes]
rs73440551	1.00[ASN][1000 genomes]
rs7783242	0.93[ASN][1000 genomes]
rs7800299	0.93[ASN][1000 genomes]
rs792617	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs792620	0.89[ASN][1000 genomes]
rs792637	0.88[EUR][1000 genomes];0.93[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	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1029627	chr7:124810399-124901651	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124870800-124884000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:124870800-124887000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:124871200-124892800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:124871800-124884800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:124875800-124884200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:124881800-124892600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:124883400-124885600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:124883600-124893000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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