Variant report

Variant	rs6972973
Chromosome Location	chr7:70789550-70789551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:70787528..70789669-chr7:70793598..70795128,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10267677	0.87[EUR][1000 genomes]
rs11760742	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11766837	0.81[EUR][1000 genomes]
rs11768233	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11770205	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11771662	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240200	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17628870	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2107795	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2527286	0.85[EUR][1000 genomes]
rs2527313	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2707425	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2707433	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2707438	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34445434	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34822312	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35964468	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4717591	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4719115	0.87[EUR][1000 genomes]
rs55690472	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6952259	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7790268	0.87[AMR][1000 genomes]
rs7803720	0.86[EUR][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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70765800-70790000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:70773400-70789800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:70784000-70808200	Weak transcription	Aorta	Aorta
4	chr7:70785000-70790000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:70786000-70790200	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:70787800-70795400	Weak transcription	Ovary	ovary
7	chr7:70788800-70791000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:70789000-70790200	Weak transcription	Left Ventricle	heart
9	chr7:70789000-70793200	Weak transcription	Fetal Lung	lung
10	chr7:70789200-70790400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:70789200-70790400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:70789200-70790600	Weak transcription	HSMM	muscle
13	chr7:70789200-70790800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:70789400-70789800	Weak transcription	Fetal Heart	heart

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