Variant report

Variant	rs12894034
Chromosome Location	chr14:66238763-66238764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10483785	0.89[EUR][1000 genomes]
rs1075566	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158611	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622271	0.81[EUR][1000 genomes]
rs11622829	0.85[EUR][1000 genomes]
rs11624104	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11625362	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625882	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627067	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11627578	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627605	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628765	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628840	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848443	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11848444	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11848463	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12050182	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050231	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586842	0.83[EUR][1000 genomes]
rs12588838	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12882200	0.83[EUR][1000 genomes]
rs12883382	0.82[EUR][1000 genomes]
rs12887673	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12887957	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888212	0.87[EUR][1000 genomes]
rs12894466	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894902	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1535173	0.87[EUR][1000 genomes]
rs1998036	0.82[EUR][1000 genomes]
rs2064694	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2268961	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2268962	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2411351	0.83[EUR][1000 genomes]
rs2411404	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2411405	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28459012	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28616692	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4073415	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4902415	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902416	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56720460	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56922569	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59636756	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61988977	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61988978	0.85[AMR][1000 genomes]
rs6573624	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573626	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142018	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7142165	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7142219	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142651	0.82[EUR][1000 genomes]
rs7146829	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7149301	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151846	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7157449	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs730807	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743084	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7493004	0.80[EUR][1000 genomes]
rs761831	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007846	0.82[ASN][1000 genomes]
rs8010876	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8018278	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8018379	0.83[ASN][1000 genomes]
rs8022764	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs927004	0.88[EUR][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	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66215600-66239800	Weak transcription	Primary T cells from cord blood	blood
2	chr14:66229000-66239200	Weak transcription	Right Atrium	heart
3	chr14:66235200-66240200	Weak transcription	Gastric	stomach
4	chr14:66237800-66243600	Enhancers	Fetal Intestine Small	intestine
5	chr14:66237800-66243800	Enhancers	Fetal Intestine Large	intestine
6	chr14:66238000-66238800	Enhancers	Small Intestine	intestine
7	chr14:66238000-66241200	Enhancers	Duodenum Mucosa	Duodenum
8	chr14:66238200-66238800	Weak transcription	Colonic Mucosa	Colon
9	chr14:66238200-66243400	Enhancers	Stomach Mucosa	stomach
10	chr14:66238600-66240000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:66238600-66240000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr14:66238600-66240200	Enhancers	Rectal Mucosa Donor 29	rectum

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