Variant report

Variant	rs7248447
Chromosome Location	chr19:42160799-42160800
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1005340	0.89[ASN][1000 genomes]
rs1015758	0.91[EUR][1000 genomes]
rs10407999	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10409040	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10417599	0.90[EUR][1000 genomes]
rs10417970	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10418202	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1122493	0.85[EUR][1000 genomes]
rs1548725	0.86[ASN][1000 genomes]
rs1548726	0.86[ASN][1000 genomes]
rs1860328	0.88[EUR][1000 genomes]
rs2016070	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016082	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052080	0.85[EUR][1000 genomes]
rs2191137	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239513	0.86[ASN][1000 genomes]
rs4426458	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4802126	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803494	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803495	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803501	0.90[ASN][1000 genomes]
rs6508988	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7248956	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7249800	0.90[ASN][1000 genomes]
rs8106661	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110064	0.90[EUR][1000 genomes]
rs9304598	0.98[EUR][1000 genomes];0.95[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	nsv1058847	chr19:42057334-42172442	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1063241	chr19:42057334-42175160	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv519408	chr19:42066279-42171906	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42155200-42161000	Weak transcription	Stomach Mucosa	stomach
2	chr19:42156200-42160800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:42156800-42160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr19:42156800-42160800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:42156800-42160800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:42160400-42161800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:42160600-42161400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr19:42160600-42161400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
9	chr19:42160600-42161800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr19:42160600-42162000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:42160600-42162000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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