Variant report

Variant	rs12402698
Chromosome Location	chr1:190566670-190566671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11584783	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12403928	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1576972	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16832476	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16832532	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72733087	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs749390	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7540703	1.00[YRI][hapmap]

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	nsv932040	chr1:190005334-190914580	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv872760	chr1:190377988-190577336	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv523002	chr1:190531642-190615637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv872767	chr1:190533711-190664289	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1001216	chr1:190548529-191070623	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190563800-190567800	Enhancers	Fetal Intestine Large	intestine
2	chr1:190565200-190567800	Enhancers	Fetal Heart	heart
3	chr1:190565400-190568400	Enhancers	Fetal Intestine Small	intestine
4	chr1:190565600-190567200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:190565600-190567400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:190565800-190567200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr1:190566600-190567000	Weak transcription	Small Intestine	intestine

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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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