Variant report

Variant	rs2064691
Chromosome Location	chr1:67607963-67607964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10889665	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10889667	0.92[EUR][1000 genomes]
rs10889668	0.85[EUR][1000 genomes]
rs11801083	0.91[EUR][1000 genomes]
rs1358748	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1358749	0.94[EUR][1000 genomes]
rs1884443	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180296	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2863203	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655521	0.89[EUR][1000 genomes]
rs4655522	0.88[EUR][1000 genomes]
rs4655681	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655688	0.91[EUR][1000 genomes]
rs4655689	0.90[EUR][1000 genomes]
rs4655690	0.90[EUR][1000 genomes]
rs6666144	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6683455	0.94[EUR][1000 genomes]
rs6684024	0.94[EUR][1000 genomes]
rs6687620	0.91[EUR][1000 genomes]
rs6703475	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518757	0.88[EUR][1000 genomes]
rs7540900	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv461762	chr1:67551209-67648460	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv546446	chr1:67551209-67648460	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv870950	chr1:67575549-67627260	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67603400-67609000	Weak transcription	Small Intestine	intestine
2	chr1:67605600-67609200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:67606200-67608600	Weak transcription	Stomach Mucosa	stomach
4	chr1:67606600-67612200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr1:67607000-67608400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:67607200-67609600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:67607400-67608200	Enhancers	Fetal Intestine Small	intestine
8	chr1:67607400-67608400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:67607600-67608200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:67607600-67608400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:67607600-67608600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:67607600-67609400	Enhancers	K562	blood
13	chr1:67607800-67608200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:67607800-67609000	Enhancers	Primary T cells from cord blood	blood
15	chr1:67607800-67609000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:67607800-67614000	Weak transcription	Rectal Mucosa Donor 31	rectum

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