Variant report

Variant	rs28429478
Chromosome Location	chr8:118879281-118879282
allele	C/T
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:16)

rs_ID	r²[population]
rs10092644	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093485	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093528	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093804	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10093862	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10108788	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17474957	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17503754	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17503858	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28429104	0.93[AFR][1000 genomes]
rs28457164	0.93[AFR][1000 genomes]
rs28623589	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28628256	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28797210	0.84[AFR][1000 genomes]
rs57678728	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57933780	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv612035	chr8:118874307-118881866	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118863200-118879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:118873600-118896200	Weak transcription	Fetal Stomach	stomach
3	chr8:118874000-118881200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:118874800-118895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:118875200-118880800	Weak transcription	Lung	lung
6	chr8:118875400-118893600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:118875600-118888000	Weak transcription	Hela-S3	cervix
8	chr8:118875800-118879400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:118876000-118879600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:118876000-118879600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:118876000-118879800	Weak transcription	HSMM	muscle
12	chr8:118876000-118880400	Weak transcription	Pancreas	Pancrea
13	chr8:118876200-118880000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:118876200-118880400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:118876200-118881400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:118876200-118883800	Weak transcription	Fetal Intestine Large	intestine
17	chr8:118876200-118884600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:118876200-118889200	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:118876200-118894800	Weak transcription	Fetal Lung	lung
20	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
21	chr8:118876400-118879800	Weak transcription	Liver	Liver
22	chr8:118876400-118880200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:118876400-118880200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:118876400-118888000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:118876400-118889400	Weak transcription	Left Ventricle	heart
26	chr8:118876400-118894400	Weak transcription	Fetal Intestine Small	intestine
27	chr8:118876600-118879600	Weak transcription	NHDF-Ad	bronchial
28	chr8:118877200-118880600	Enhancers	A549	lung
29	chr8:118877400-118882600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:118877600-118881200	Enhancers	NH-A	brain
31	chr8:118877800-118896200	Weak transcription	HepG2	liver
32	chr8:118878000-118883800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:118878200-118879400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:118878200-118880000	Weak transcription	Fetal Heart	heart
35	chr8:118878200-118880800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:118878600-118879400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:118878600-118879600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr8:118878600-118880000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr8:118878600-118880400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:118878600-118880400	Enhancers	NHLF	lung
41	chr8:118878600-118880600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:118878600-118880600	Enhancers	Ovary	ovary
43	chr8:118878600-118880600	Enhancers	Osteobl	bone
44	chr8:118878600-118880800	Enhancers	NHEK	skin
45	chr8:118878600-118881600	Enhancers	Aorta	Aorta
46	chr8:118878600-118881600	Enhancers	HMEC	breast
47	chr8:118879000-118880000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr8:118879000-118880800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:118879000-118881800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:118879200-118879600	Enhancers	Stomach Smooth Muscle	stomach

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