Variant report

Variant	rs1865292
Chromosome Location	chr8:120646196-120646197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10955934	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11778296	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11785712	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16892900	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16892938	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17215053	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2060377	0.80[ASN][1000 genomes]
rs2117217	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34872621	0.86[ASN][1000 genomes]
rs56224112	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7007970	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013772	0.80[ASN][1000 genomes]
rs7821416	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription 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	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	esv3481249	chr8:120645665-120646200	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	esv3481250	chr8:120645679-120646200	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120619200-120648000	Weak transcription	Brain Angular Gyrus	brain
2	chr8:120627800-120649200	Weak transcription	NHLF	lung
3	chr8:120633400-120647800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:120634800-120650000	Weak transcription	Primary T cells from cord blood	blood
5	chr8:120635400-120649200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:120635400-120649400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:120635800-120647200	Weak transcription	Placenta	Placenta
8	chr8:120635800-120648600	Weak transcription	Osteobl	bone
9	chr8:120639200-120647200	Weak transcription	Brain Anterior Caudate	brain
10	chr8:120639200-120647200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:120639200-120647400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:120639400-120647000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:120641800-120647200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:120642200-120646600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:120644000-120646400	Enhancers	Fetal Thymus	thymus
16	chr8:120644600-120649400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:120645200-120650600	Enhancers	Brain Hippocampus Middle	brain
18	chr8:120645600-120647200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:120645600-120649600	Weak transcription	Thymus	Thymus
20	chr8:120645800-120647000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:120645800-120647000	Weak transcription	Adipose Nuclei	Adipose
22	chr8:120645800-120647200	Weak transcription	Liver	Liver
23	chr8:120645800-120647200	Weak transcription	Brain Substantia Nigra	brain
24	chr8:120645800-120647200	Weak transcription	Fetal Lung	lung
25	chr8:120645800-120647600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:120645800-120647800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:120645800-120649400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:120645800-120650400	Weak transcription	GM12878-XiMat	blood
29	chr8:120646000-120646600	Weak transcription	NHDF-Ad	bronchial

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