Variant report

Variant	rs28545757
Chromosome Location	chr8:131394425-131394426
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10086454	0.87[ASN][1000 genomes]
rs10086773	0.84[ASN][1000 genomes]
rs10087626	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10090106	0.82[ASN][1000 genomes]
rs10090231	0.82[ASN][1000 genomes]
rs10090767	0.82[ASN][1000 genomes]
rs10099549	0.87[ASN][1000 genomes]
rs10099586	0.87[ASN][1000 genomes]
rs10103132	0.89[ASN][1000 genomes]
rs10107054	0.82[ASN][1000 genomes]
rs10111650	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956520	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10956522	0.87[ASN][1000 genomes]
rs10956523	0.82[ASN][1000 genomes]
rs11784638	0.84[ASN][1000 genomes]
rs11992217	0.87[ASN][1000 genomes]
rs11992885	0.82[ASN][1000 genomes]
rs11992932	0.82[ASN][1000 genomes]
rs11992957	0.82[ASN][1000 genomes]
rs11993714	0.82[ASN][1000 genomes]
rs11993741	0.82[ASN][1000 genomes]
rs11997462	0.82[ASN][1000 genomes]
rs12678030	0.87[ASN][1000 genomes]
rs12678062	0.81[ASN][1000 genomes]
rs12678808	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12680178	0.87[ASN][1000 genomes]
rs12680697	0.87[ASN][1000 genomes]
rs12681664	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13249894	0.82[ASN][1000 genomes]
rs13255178	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13260346	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13275147	0.87[ASN][1000 genomes]
rs13275883	0.91[ASN][1000 genomes]
rs13276168	0.82[ASN][1000 genomes]
rs1340020	0.85[ASN][1000 genomes]
rs16904260	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16904267	0.84[ASN][1000 genomes]
rs16904268	0.84[ASN][1000 genomes]
rs17215817	0.82[ASN][1000 genomes]
rs17287702	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2791349	0.85[ASN][1000 genomes]
rs28559741	0.91[ASN][1000 genomes]
rs28562521	0.84[ASN][1000 genomes]
rs28707621	0.82[ASN][1000 genomes]
rs28716119	0.82[ASN][1000 genomes]
rs34003529	0.84[ASN][1000 genomes]
rs34019017	0.84[ASN][1000 genomes]
rs34188408	0.87[ASN][1000 genomes]
rs34542318	0.82[ASN][1000 genomes]
rs34676374	0.84[ASN][1000 genomes]
rs34737610	0.82[ASN][1000 genomes]
rs34987314	0.84[ASN][1000 genomes]
rs35123370	0.84[ASN][1000 genomes]
rs35229803	0.83[ASN][1000 genomes]
rs35592532	0.82[ASN][1000 genomes]
rs4574884	0.87[ASN][1000 genomes]
rs4609234	0.89[ASN][1000 genomes]
rs5027392	0.84[ASN][1000 genomes]
rs56677646	0.82[ASN][1000 genomes]
rs6986119	0.84[ASN][1000 genomes]
rs6986163	0.84[ASN][1000 genomes]
rs6990443	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7014098	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7812299	0.82[ASN][1000 genomes]
rs7812469	0.82[ASN][1000 genomes]
rs7822259	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7822957	0.82[ASN][1000 genomes]
rs7823146	0.82[ASN][1000 genomes]
rs7828824	0.82[ASN][1000 genomes]
rs7838650	0.87[ASN][1000 genomes]
rs7844582	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv982153	chr8:131391067-131407495	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
2	chr8:131371800-131396400	Weak transcription	HepG2	liver
3	chr8:131371800-131398400	Weak transcription	Fetal Lung	lung
4	chr8:131374600-131409000	Weak transcription	Fetal Brain Female	brain
5	chr8:131381000-131401400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:131381400-131400000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:131382600-131398800	Weak transcription	Lung	lung
8	chr8:131383200-131396600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:131383200-131397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:131383800-131409200	Weak transcription	Right Atrium	heart
11	chr8:131384000-131400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:131384600-131397000	Weak transcription	Ovary	ovary
13	chr8:131384800-131408200	Weak transcription	Adipose Nuclei	Adipose
14	chr8:131384800-131408800	Weak transcription	Brain Germinal Matrix	brain
15	chr8:131385800-131408600	Weak transcription	Fetal Brain Male	brain
16	chr8:131387000-131398000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:131388600-131396000	Weak transcription	Right Ventricle	heart
18	chr8:131388600-131396200	Weak transcription	HMEC	breast
19	chr8:131388600-131397000	Weak transcription	NHDF-Ad	bronchial
20	chr8:131388600-131398600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:131388600-131398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:131388600-131400200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:131388600-131407200	Weak transcription	HSMM	muscle
24	chr8:131388800-131400400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:131388800-131400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:131388800-131400800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:131388800-131408400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:131389400-131409200	Weak transcription	Pancreas	Pancrea
29	chr8:131389600-131399200	Strong transcription	NHEK	skin
30	chr8:131389800-131396000	Strong transcription	Fetal Stomach	stomach
31	chr8:131390000-131400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr8:131390200-131395200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:131390200-131397800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:131390200-131398600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:131390200-131399000	Strong transcription	Fetal Muscle Leg	muscle
36	chr8:131390400-131397800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:131390400-131400200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:131390400-131401000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:131390400-131407200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:131390800-131398600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:131390800-131401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:131390800-131401400	Weak transcription	Liver	Liver
43	chr8:131390800-131407000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:131391200-131395600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:131391600-131396000	Weak transcription	HUVEC	blood vessel
46	chr8:131392000-131397000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:131392200-131395400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:131392200-131399200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:131392200-131400200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:131392400-131394800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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