Variant report

Variant	rs16914320
Chromosome Location	chr8:51047746-51047747
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10088162	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10091003	1.00[CHB][hapmap]
rs10095718	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10105484	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10106151	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10106888	1.00[ASN][1000 genomes]
rs10113365	1.00[CHB][hapmap]
rs10283373	1.00[CHB][hapmap]
rs10504097	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10957842	1.00[CHB][hapmap]
rs10957849	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10957877	1.00[CHB][hapmap]
rs11786508	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11987882	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11995010	1.00[CHB][hapmap];0.80[YRI][hapmap]
rs11998379	1.00[CHB][hapmap]
rs12335244	1.00[CHB][hapmap]
rs12675740	1.00[CHB][hapmap]
rs13340583	1.00[CHB][hapmap];0.82[YRI][hapmap]
rs13340626	1.00[CHB][hapmap];0.81[YRI][hapmap]
rs1450128	1.00[CHB][hapmap]
rs1460438	1.00[CHB][hapmap]
rs1563866	1.00[CHB][hapmap]
rs16914265	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16914292	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16914316	1.00[CHB][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16914330	1.00[CHB][hapmap]
rs16914357	1.00[CHB][hapmap]
rs16914468	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16914489	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17842001	1.00[CHB][hapmap];0.84[YRI][hapmap];1.00[ASN][1000 genomes]
rs4242458	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4295673	1.00[CHB][hapmap]
rs4300017	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4330703	1.00[CHB][hapmap]
rs4341173	1.00[CHB][hapmap]
rs4345571	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4368993	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4383986	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4421361	1.00[CHB][hapmap]
rs4548195	1.00[CHB][hapmap]
rs4620300	1.00[CHB][hapmap]
rs4873139	1.00[CHB][hapmap]
rs4873140	1.00[ASN][1000 genomes]
rs4873444	1.00[CHB][hapmap]
rs55736281	1.00[ASN][1000 genomes]
rs57333617	1.00[ASN][1000 genomes]
rs59268471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6985348	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6985863	1.00[CHB][hapmap]
rs6987003	1.00[CHB][hapmap]
rs6991830	1.00[CHB][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7000701	1.00[CHB][hapmap]
rs7001922	1.00[CHB][hapmap]
rs7002107	1.00[CHB][hapmap]
rs7014050	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7014377	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73571382	1.00[ASN][1000 genomes]
rs73571390	1.00[ASN][1000 genomes]
rs73573556	1.00[ASN][1000 genomes]
rs73573569	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73575356	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73575383	1.00[ASN][1000 genomes]
rs7462415	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv6184	chr8:50997525-51060432	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv539606	chr8:51006600-51057478	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1829361	chr8:51021638-51101126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1027998	chr8:51032883-51084279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv539607	chr8:51032883-51084279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51040600-51048400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:51046200-51048200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:51046600-51047800	Enhancers	Fetal Brain Male	brain
4	chr8:51046600-51048000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:51047000-51047800	Enhancers	Fetal Lung	lung
6	chr8:51047200-51047800	Enhancers	Brain Substantia Nigra	brain
7	chr8:51047200-51051800	Weak transcription	Brain Germinal Matrix	brain
8	chr8:51047400-51047800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:51047400-51047800	Enhancers	Fetal Stomach	stomach
10	chr8:51047400-51047800	Enhancers	NH-A	brain
11	chr8:51047400-51051800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:51047600-51047800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:51047600-51047800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:51047600-51047800	Enhancers	Fetal Muscle Leg	muscle
15	chr8:51047600-51047800	Enhancers	Right Atrium	heart
16	chr8:51047600-51048200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:51047600-51052400	Weak transcription	Fetal Brain Female	brain

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