Variant report

Variant	rs73254311
Chromosome Location	chr4:21598131-21598132
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10011740	1.00[ASN][1000 genomes]
rs1394135	1.00[ASN][1000 genomes]
rs1394136	1.00[ASN][1000 genomes]
rs16871492	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16871505	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871508	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871511	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871514	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41397149	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41500944	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56155919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186155	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56408419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59586361	0.92[EUR][1000 genomes]
rs60492426	0.92[EUR][1000 genomes]
rs6448062	1.00[ASN][1000 genomes]
rs6813304	0.92[EUR][1000 genomes]
rs6824316	0.90[EUR][1000 genomes]
rs6824702	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6824711	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836213	0.92[EUR][1000 genomes]
rs6843752	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6843837	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6844068	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6848885	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6849321	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252231	0.92[EUR][1000 genomes]
rs73252235	0.92[EUR][1000 genomes]
rs73252236	0.92[EUR][1000 genomes]
rs73252249	0.92[EUR][1000 genomes]
rs73252255	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252256	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252257	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252260	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252261	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252264	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252265	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73252266	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252267	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252268	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252269	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252271	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252272	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252288	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252289	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73252290	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254304	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254305	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254306	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254310	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254386	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73254387	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73256510	0.82[EUR][1000 genomes]
rs7657287	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7657482	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7670800	1.00[ASN][1000 genomes]
rs7679874	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681243	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681823	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv829879	chr4:21418568-21611002	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv998481	chr4:21421945-21608805	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv829880	chr4:21492426-21693816	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1008716	chr4:21580423-21633636	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1003426	chr4:21580423-21640350	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv461289	chr4:21588298-21639516	Active TSS Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
8	nsv593809	chr4:21588298-21639516	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21594200-21598400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr4:21597200-21598800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:21597400-21598200	Enhancers	Brain Hippocampus Middle	brain
4	chr4:21597400-21598600	Enhancers	Brain Anterior Caudate	brain
5	chr4:21597400-21598800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:21597400-21599200	Enhancers	Brain Angular Gyrus	brain
7	chr4:21597600-21598800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr4:21597600-21598800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:21597600-21599400	Enhancers	Brain Substantia Nigra	brain
10	chr4:21597800-21598200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:21597800-21598800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr4:21598000-21598200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr4:21598000-21598200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr4:21598000-21598400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr4:21598000-21598600	Enhancers	Fetal Heart	heart
16	chr4:21598000-21598800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:21598000-21598800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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