Variant report

Variant	rs3019145
Chromosome Location	chr8:95413552-95413553
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10087254	0.93[ASN][1000 genomes]
rs10087503	0.92[ASN][1000 genomes]
rs10095298	0.92[ASN][1000 genomes]
rs10102496	0.80[EUR][1000 genomes]
rs1011249	0.81[ASN][1000 genomes]
rs10112606	0.80[EUR][1000 genomes]
rs10464877	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10504936	0.80[EUR][1000 genomes]
rs10808669	0.93[ASN][1000 genomes]
rs10956913	0.92[ASN][1000 genomes]
rs10956914	0.92[ASN][1000 genomes]
rs12375355	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12545262	0.80[EUR][1000 genomes]
rs12549544	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12674614	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12675415	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12676373	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12679347	0.80[EUR][1000 genomes]
rs12680213	0.80[EUR][1000 genomes]
rs12681366	0.91[EUR][1000 genomes]
rs12681504	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12682038	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12682524	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13280849	0.80[EUR][1000 genomes]
rs13281619	0.80[EUR][1000 genomes]
rs1372048	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16916760	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16916788	0.80[EUR][1000 genomes]
rs16916796	0.80[EUR][1000 genomes]
rs16916802	0.81[EUR][1000 genomes]
rs1872889	0.80[ASN][1000 genomes]
rs2011246	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2043988	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2165405	0.95[ASN][1000 genomes]
rs2171440	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2197003	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2197004	0.93[ASN][1000 genomes]
rs2291439	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2381793	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2381886	0.93[ASN][1000 genomes]
rs28641679	0.81[EUR][1000 genomes]
rs2919655	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2919656	0.93[ASN][1000 genomes]
rs2919657	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2919658	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2919659	0.93[ASN][1000 genomes]
rs2919664	0.93[ASN][1000 genomes]
rs2919667	0.93[ASN][1000 genomes]
rs2919668	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2919670	0.93[ASN][1000 genomes]
rs2919672	0.81[ASN][1000 genomes]
rs2919673	0.81[ASN][1000 genomes]
rs2921386	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2930956	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2930958	0.81[ASN][1000 genomes]
rs2930961	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2930962	0.81[ASN][1000 genomes]
rs2930963	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2930964	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2930971	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2931631	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2931632	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2931633	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2960121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2960122	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3019146	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3019147	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019149	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019150	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019154	0.81[ASN][1000 genomes]
rs3019155	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019156	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019277	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019278	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019280	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019281	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019282	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3019284	0.93[ASN][1000 genomes]
rs35918414	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4735291	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4735292	0.81[EUR][1000 genomes]
rs4735293	0.81[EUR][1000 genomes]
rs55963151	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6999103	0.93[ASN][1000 genomes]
rs6999976	0.93[ASN][1000 genomes]
rs716770	0.80[EUR][1000 genomes]
rs72672679	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72674819	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs752460	0.81[EUR][1000 genomes]
rs9297939	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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1031480	chr8:95375696-95447407	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95365800-95417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:95372000-95414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:95378200-95417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:95382400-95414800	Weak transcription	Gastric	stomach
5	chr8:95384200-95413600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:95386000-95421400	Weak transcription	Psoas Muscle	Psoas
7	chr8:95386000-95429200	Weak transcription	NHDF-Ad	bronchial
8	chr8:95386600-95418400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:95387200-95418000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:95389200-95415600	Weak transcription	Adipose Nuclei	Adipose
11	chr8:95389200-95417800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:95392000-95413600	Weak transcription	Left Ventricle	heart
13	chr8:95392200-95414400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:95392200-95415000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:95392200-95419000	Weak transcription	Thymus	Thymus
16	chr8:95392200-95421000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:95392200-95430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:95392400-95413600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:95392400-95416000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:95392400-95417400	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:95392600-95414200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:95392600-95415800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:95392600-95417400	Weak transcription	Osteobl	bone
24	chr8:95392600-95424800	Weak transcription	Hela-S3	cervix
25	chr8:95393000-95416000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:95393000-95418000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:95393200-95447000	Weak transcription	K562	blood
28	chr8:95400200-95420200	Weak transcription	Stomach Mucosa	stomach
29	chr8:95400400-95419600	Weak transcription	Fetal Intestine Small	intestine
30	chr8:95400600-95416400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:95401400-95419400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr8:95402800-95417000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:95404000-95416600	Weak transcription	Brain Germinal Matrix	brain
34	chr8:95404000-95418400	Weak transcription	NH-A	brain
35	chr8:95404200-95416400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:95404200-95429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:95404400-95419800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:95404600-95424400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:95405800-95413800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:95406400-95416200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:95407800-95418800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:95408200-95416000	Weak transcription	HSMM	muscle
43	chr8:95408400-95416200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:95408600-95429000	Weak transcription	HMEC	breast
45	chr8:95409400-95415800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:95409400-95417600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:95409400-95421600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:95409400-95443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:95409800-95414600	Weak transcription	A549	lung
50	chr8:95410600-95417200	Strong transcription	Dnd41	blood

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