Variant report

Variant	rs4394615
Chromosome Location	chr1:213758667-213758668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11120166	0.93[ASN][1000 genomes]
rs12021535	0.98[ASN][1000 genomes]
rs12023183	0.98[ASN][1000 genomes]
rs12024015	1.00[ASN][1000 genomes]
rs12024904	0.93[ASN][1000 genomes]
rs12026459	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12026491	0.98[ASN][1000 genomes]
rs12029072	0.91[ASN][1000 genomes]
rs12031624	1.00[ASN][1000 genomes]
rs12033788	0.98[ASN][1000 genomes]
rs12040529	0.91[ASN][1000 genomes]
rs12044623	0.91[ASN][1000 genomes]
rs12044697	0.91[ASN][1000 genomes]
rs12045032	0.91[ASN][1000 genomes]
rs12048306	0.96[ASN][1000 genomes]
rs12049107	1.00[ASN][1000 genomes]
rs12062055	0.93[ASN][1000 genomes]
rs12062324	0.93[ASN][1000 genomes]
rs12063434	0.93[ASN][1000 genomes]
rs12077375	0.93[ASN][1000 genomes]
rs12078742	0.93[ASN][1000 genomes]
rs12078860	0.93[ASN][1000 genomes]
rs17021041	0.93[ASN][1000 genomes]
rs17021061	0.93[ASN][1000 genomes]
rs400857	0.83[ASN][1000 genomes]
rs420627	0.83[ASN][1000 genomes]
rs436112	0.81[ASN][1000 genomes]
rs4475718	0.98[ASN][1000 genomes]
rs4655299	0.81[ASN][1000 genomes]
rs4655453	1.00[YRI][hapmap]
rs55816435	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56254675	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56352066	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56714901	0.93[ASN][1000 genomes]
rs58537941	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60223676	0.93[ASN][1000 genomes]
rs61197031	0.93[ASN][1000 genomes]
rs61616602	1.00[ASN][1000 genomes]
rs6661042	0.93[ASN][1000 genomes]
rs67490848	0.81[ASN][1000 genomes]
rs72747785	0.91[ASN][1000 genomes]
rs72747794	0.91[ASN][1000 genomes]
rs72747796	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72747798	0.91[ASN][1000 genomes]
rs72747801	0.91[ASN][1000 genomes]
rs72749621	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832525	chr1:213580476-213782815	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3345878	chr1:213714352-213841547	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3426755	chr1:213714443-213841514	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3378592	chr1:213714463-213841484	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr1:213757800-213760200	Enhancers	Fetal Intestine Small	intestine
2	chr1:213758000-213760600	Enhancers	Fetal Intestine Large	intestine
3	chr1:213758200-213759400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr1:213758200-213760400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:213758200-213760600	Enhancers	HepG2	liver
6	chr1:213758200-213760800	Enhancers	Pancreas	Pancrea
7	chr1:213758400-213758800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr1:213758400-213759200	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr1:213758400-213759400	Enhancers	Colonic Mucosa	Colon
10	chr1:213758600-213758800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:213758600-213760400	Enhancers	Fetal Heart	heart

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