Variant report

Variant	rs11985544
Chromosome Location	chr8:111176169-111176170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10955534	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785358	0.81[AMR][1000 genomes]
rs11996078	0.82[AFR][1000 genomes]
rs13260817	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266032	0.81[AMR][1000 genomes]
rs13269480	0.90[EUR][1000 genomes]
rs13272142	0.92[EUR][1000 genomes]
rs13281977	0.90[EUR][1000 genomes]
rs2198044	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218816	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1019284	chr8:110866196-111221890	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv891283	chr8:111091089-111221549	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv891284	chr8:111091089-111244015	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv891285	chr8:111116148-111182246	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1026680	chr8:111131741-111413284	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv465762	chr8:111138684-111181385	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv611881	chr8:111138684-111181385	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111173400-111180000	Weak transcription	Fetal Intestine Large	intestine
2	chr8:111174200-111179000	Weak transcription	Liver	Liver
3	chr8:111175600-111177000	Enhancers	HMEC	breast
4	chr8:111175800-111177000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:111176000-111176200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr8:111176000-111176400	Weak transcription	NHEK	skin

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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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