Variant report

Variant	rs7248297
Chromosome Location	chr19:43062744-43062745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10084159	0.83[AMR][1000 genomes]
rs10401271	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs10402361	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10402401	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10402677	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10403517	0.86[AMR][1000 genomes]
rs10403979	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10404402	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10404509	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10405445	0.86[AMR][1000 genomes]
rs10405646	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10405906	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10407178	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10407576	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410147	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10411165	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10411458	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10412463	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10413413	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10414602	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10415564	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416089	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10417418	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10417693	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10419378	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10420164	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10420796	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421108	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421620	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421881	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10422573	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10422987	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10423291	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10425241	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10469271	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469285	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469286	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1076243	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083659	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11665767	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11665870	0.83[AMR][1000 genomes]
rs11665935	0.83[AMR][1000 genomes]
rs11666425	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666835	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11666862	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11668009	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11668460	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11669892	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11670316	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11671846	0.84[ASN][1000 genomes]
rs11673645	0.87[ASN][1000 genomes]
rs11673684	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11879306	0.87[ASN][1000 genomes]
rs11881517	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11882150	0.87[ASN][1000 genomes]
rs11882882	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12327586	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13343936	0.83[AMR][1000 genomes]
rs13346414	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16975865	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16975890	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1859341	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267631	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28411988	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28447294	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2883270	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4499340	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55641435	0.96[ASN][1000 genomes]
rs55850134	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56237547	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56978333	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57902582	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59525393	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60052467	0.82[EUR][1000 genomes]
rs60313903	0.87[ASN][1000 genomes]
rs60662795	0.94[ASN][1000 genomes]
rs6509016	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6509017	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6509020	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247618	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248042	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7249411	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7253056	0.86[AMR][1000 genomes]
rs7253209	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73562329	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8102439	0.83[AMR][1000 genomes]
rs8102519	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8103285	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8103891	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8106083	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106570	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8107152	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8107254	0.83[AMR][1000 genomes]
rs8107790	0.83[AMR][1000 genomes]
rs8108816	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8110766	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110917	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8112156	0.86[AMR][1000 genomes]
rs851298	0.87[ASN][1000 genomes]
rs851301	0.87[ASN][1000 genomes]
rs851302	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9304604	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482597	chr19:43037214-43222644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758501	chr19:43042747-43899053	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2758763	chr19:43042747-43899053	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv428023	chr19:43042747-43899053	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	esv2422227	chr19:43059426-43669485	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43050600-43067800	Weak transcription	Right Atrium	heart
2	chr19:43057600-43062800	Weak transcription	Ovary	ovary
3	chr19:43059400-43063200	Enhancers	HepG2	liver
4	chr19:43059800-43064000	Weak transcription	Esophagus	oesophagus
5	chr19:43060000-43062800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr19:43060200-43064200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr19:43060200-43067600	Weak transcription	Adipose Nuclei	Adipose
8	chr19:43060400-43063000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr19:43060400-43064200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr19:43061800-43063000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:43062000-43063400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:43062000-43064200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr19:43062000-43064400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr19:43062000-43064600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr19:43062200-43063800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:43062400-43064800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr19:43062600-43062800	Enhancers	Fetal Stomach	stomach
18	chr19:43062600-43063000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:43062600-43063200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:43062600-43063400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr19:43062600-43064200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr19:43062600-43064400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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