Variant report

Variant	rs4948201
Chromosome Location	chr7:50556572-50556573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1007702	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1007749	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11575280	0.87[AMR][1000 genomes]
rs11575304	1.00[AFR][1000 genomes]
rs11575332	1.00[EUR][1000 genomes]
rs11575359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11575413	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11575424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11575425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11575460	1.00[AFR][1000 genomes]
rs11575506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12531158	0.81[AMR][1000 genomes]
rs12532576	1.00[AFR][1000 genomes]
rs12535024	0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1451370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17665398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17665588	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17665670	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1817073	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1868886	0.81[AMR][1000 genomes]
rs3735276	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779075	0.88[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3779076	0.88[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947511	0.81[AMR][1000 genomes]
rs4947576	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4947580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4947594	0.88[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947634	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4948010	0.81[AMR][1000 genomes]
rs4948197	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4948216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6592962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6947293	1.00[AFR][1000 genomes]
rs6951323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6952938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6953661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6958793	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6959596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6968322	1.00[AFR][1000 genomes]
rs6976009	0.81[AMR][1000 genomes]
rs731689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7791562	0.86[AFR][1000 genomes]
rs7792474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7797311	1.00[AFR][1000 genomes]
rs7800887	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv888021	chr7:50538589-50610071	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv606905	chr7:50544063-50565963	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr7:50543600-50595000	Weak transcription	Liver	Liver
2	chr7:50545800-50565800	Weak transcription	HepG2	liver
3	chr7:50548800-50556600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:50548800-50559600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:50548800-50559800	Weak transcription	Fetal Intestine Large	intestine
6	chr7:50548800-50564400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:50554600-50559800	Weak transcription	K562	blood
8	chr7:50556400-50557400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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