Variant report

Variant	rs16892771
Chromosome Location	chr8:120579312-120579313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11985985	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11991384	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892739	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892741	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892742	1.00[ASW][hapmap];1.00[GIH][hapmap];0.84[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892745	0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892746	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892751	1.00[ASW][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41408746	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41524345	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4595153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7341607	1.00[GIH][hapmap]

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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120565000-120595200	Weak transcription	Fetal Stomach	stomach
2	chr8:120566000-120596800	Weak transcription	Spleen	Spleen
3	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
4	chr8:120567000-120580200	Strong transcription	Placenta	Placenta
5	chr8:120568000-120595400	Weak transcription	Fetal Thymus	thymus
6	chr8:120568200-120598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:120568400-120582200	Weak transcription	Ovary	ovary
8	chr8:120568600-120594000	Weak transcription	Primary T cells from cord blood	blood
9	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
10	chr8:120570800-120580600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:120571400-120592400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:120571600-120579800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:120572200-120580800	Strong transcription	Adipose Nuclei	Adipose
14	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
15	chr8:120572600-120591600	Weak transcription	Psoas Muscle	Psoas
16	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:120575600-120580800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:120576000-120593600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:120577000-120585400	Genic enhancers	NHDF-Ad	bronchial
20	chr8:120577200-120579600	Enhancers	Brain Angular Gyrus	brain
21	chr8:120577200-120580000	Enhancers	Brain Anterior Caudate	brain
22	chr8:120577200-120580000	Enhancers	Brain Cingulate Gyrus	brain
23	chr8:120577200-120580200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr8:120577200-120581600	Enhancers	Brain Substantia Nigra	brain
25	chr8:120577400-120581600	Strong transcription	Fetal Lung	lung
26	chr8:120577600-120581600	Enhancers	Brain Hippocampus Middle	brain
27	chr8:120577800-120579600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:120577800-120579600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:120577800-120580200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:120577800-120580800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:120578000-120580800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:120578000-120581400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:120578000-120589000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr8:120578200-120580800	Weak transcription	Osteobl	bone
35	chr8:120578400-120581400	Weak transcription	NHLF	lung
36	chr8:120578600-120589400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:120578800-120595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:120579000-120579800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:120579200-120580800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:120579200-120581200	Strong transcription	Liver	Liver

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