Variant report

Variant	rs16914324
Chromosome Location	chr8:51053349-51053350
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10086701	1.00[AMR][1000 genomes]
rs10086711	1.00[AMR][1000 genomes]
rs10087717	1.00[AMR][1000 genomes]
rs10087960	1.00[ASW][hapmap]
rs10092855	1.00[AMR][1000 genomes]
rs10095854	1.00[AMR][1000 genomes]
rs10098968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10100178	1.00[AMR][1000 genomes]
rs10102192	1.00[AMR][1000 genomes]
rs10103000	1.00[YRI][hapmap]
rs10103196	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10105597	1.00[AMR][1000 genomes]
rs10105663	1.00[AMR][1000 genomes]
rs10108552	1.00[AMR][1000 genomes]
rs10110083	1.00[AMR][1000 genomes]
rs10110244	1.00[AMR][1000 genomes]
rs10110791	1.00[AMR][1000 genomes]
rs10111355	1.00[YRI][hapmap]
rs11986830	1.00[AMR][1000 genomes]
rs11995916	1.00[AMR][1000 genomes]
rs12334688	1.00[AMR][1000 genomes]
rs16914314	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914325	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914366	1.00[AMR][1000 genomes]
rs16914373	1.00[AMR][1000 genomes]
rs16914384	1.00[AMR][1000 genomes]
rs16914386	1.00[AMR][1000 genomes]
rs16914392	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16914395	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16914462	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16914513	1.00[ASW][hapmap];0.92[LWK][hapmap]
rs16914522	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap]
rs16914541	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap]
rs28417739	1.00[ASW][hapmap]
rs28546668	1.00[AMR][1000 genomes]
rs28642790	1.00[AMR][1000 genomes]
rs28644781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28654110	1.00[AMR][1000 genomes]
rs28760868	1.00[AMR][1000 genomes]
rs28773838	1.00[AMR][1000 genomes]
rs56804531	1.00[AMR][1000 genomes]
rs9987189	1.00[AMR][1000 genomes]

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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51051400-51054000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:51051600-51053600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:51051600-51054200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:51051600-51054200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:51051800-51053400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:51051800-51053400	Enhancers	HMEC	breast
7	chr8:51051800-51053400	Enhancers	NH-A	brain
8	chr8:51051800-51053400	Enhancers	NHLF	lung
9	chr8:51051800-51053600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:51051800-51054000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:51051800-51054000	Enhancers	Brain Germinal Matrix	brain
12	chr8:51052000-51053400	Enhancers	HSMM	muscle
13	chr8:51052000-51053400	Enhancers	NHDF-Ad	bronchial
14	chr8:51052000-51054000	Enhancers	Fetal Brain Male	brain
15	chr8:51052200-51053400	Enhancers	Brain Anterior Caudate	brain
16	chr8:51052400-51053800	Enhancers	Fetal Brain Female	brain
17	chr8:51052800-51053600	Enhancers	Osteobl	bone
18	chr8:51052800-51053800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:51052800-51054000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:51053000-51053400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:51053000-51053800	Enhancers	Brain Cingulate Gyrus	brain

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