Variant report

Variant	rs6703475
Chromosome Location	chr1:67603972-67603973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10889665	0.83[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]
rs12069782	0.82[EUR][1000 genomes]
rs12090164	0.82[EUR][1000 genomes]
rs12095536	0.82[EUR][1000 genomes]
rs1358748	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1358749	0.94[EUR][1000 genomes]
rs1884443	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064691	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2180296	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2863203	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762318	0.83[EUR][1000 genomes]
rs4655521	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4655522	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4655681	0.80[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
rs7518757	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7540900	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67600800-67606200	Enhancers	Fetal Intestine Large	intestine
2	chr1:67600800-67607400	Weak transcription	Colonic Mucosa	Colon
3	chr1:67601000-67604400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr1:67601000-67604600	Weak transcription	Liver	Liver
5	chr1:67601000-67606000	Enhancers	Fetal Intestine Small	intestine
6	chr1:67601000-67607400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:67601200-67606800	Weak transcription	Primary T cells from cord blood	blood
8	chr1:67601400-67604000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:67601400-67604200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:67602800-67604000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:67602800-67604000	Enhancers	Hela-S3	cervix
12	chr1:67602800-67605800	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:67602800-67605800	Enhancers	K562	blood
14	chr1:67602800-67606200	Enhancers	Stomach Mucosa	stomach
15	chr1:67603400-67605400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:67603400-67605600	Weak transcription	Gastric	stomach
17	chr1:67603400-67605600	Weak transcription	Pancreas	Pancrea
18	chr1:67603400-67609000	Weak transcription	Small Intestine	intestine
19	chr1:67603600-67604200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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