Variant report

Variant	rs11988510
Chromosome Location	chr8:99316804-99316805
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11787135	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990039	0.81[ASN][1000 genomes]
rs12545495	0.81[ASN][1000 genomes]
rs12680907	0.81[ASN][1000 genomes]
rs16896860	0.97[ASN][1000 genomes]
rs16896886	0.85[ASN][1000 genomes]
rs17288751	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17360790	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923611	0.88[ASN][1000 genomes]
rs4388427	0.97[ASN][1000 genomes]
rs4552871	0.81[ASN][1000 genomes]
rs4735549	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735550	0.97[ASN][1000 genomes]
rs4735551	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735552	0.84[ASN][1000 genomes]
rs4735555	0.83[ASN][1000 genomes]
rs7812348	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7813519	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99306800-99317000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:99306800-99317200	Weak transcription	Esophagus	oesophagus
3	chr8:99310200-99324200	Weak transcription	Fetal Heart	heart
4	chr8:99310400-99317200	Weak transcription	Osteobl	bone
5	chr8:99310800-99317200	Weak transcription	HepG2	liver
6	chr8:99313000-99318200	Weak transcription	Stomach Mucosa	stomach
7	chr8:99313800-99317000	Weak transcription	GM12878-XiMat	blood
8	chr8:99313800-99318000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:99315200-99318000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:99316000-99318400	Weak transcription	Fetal Intestine Large	intestine
11	chr8:99316000-99318400	Weak transcription	Fetal Intestine Small	intestine
12	chr8:99316000-99320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:99316600-99317000	Enhancers	K562	blood
14	chr8:99316800-99318600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr8:99316800-99318800	Enhancers	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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