Variant report

Variant	rs6751688
Chromosome Location	chr2:185327680-185327681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11678101	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474365	0.80[EUR][1000 genomes]
rs12693377	0.98[EUR][1000 genomes]
rs1820538	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1966769	0.96[EUR][1000 genomes]
rs1966770	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1992515	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6733780	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72893713	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72893716	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72893721	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574316	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592419	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768352	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875497	chr2:185134237-185474770	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv818102	chr2:185210610-185339921	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
3	esv2756955	chr2:185210745-185370786	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
4	esv2759106	chr2:185210745-185370786	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	esv3459904	chr2:185214246-185346055	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
6	esv3459905	chr2:185214246-185346055	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
7	esv3693448	chr2:185242856-185333717	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
8	nsv875506	chr2:185242856-185339475	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1006523	chr2:185295690-185350943	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv875510	chr2:185296258-185400303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv875511	chr2:185300641-185400303	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv875512	chr2:185300641-185474770	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv523918	chr2:185326251-185327680	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv584004	chr2:185326251-185374189	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185327000-185327800	Enhancers	Duodenum Mucosa	Duodenum
2	chr2:185327400-185327800	Enhancers	Fetal Intestine Small	intestine
3	chr2:185327600-185328200	Flanking Active TSS	Fetal Intestine Large	intestine
4	chr2:185327600-185328400	Flanking Active TSS	Liver	Liver
5	chr2:185327600-185328800	Enhancers	Rectal Mucosa Donor 31	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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