Variant report

Variant	rs4527922
Chromosome Location	chr8:121402603-121402604
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs10085998	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10086229	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10086640	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10089714	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10090842	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10093792	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10095776	0.97[EUR][1000 genomes]
rs10095915	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10097612	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10099300	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10101562	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10102004	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10102834	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103515	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10110599	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10110765	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808512	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11534106	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11984927	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11985401	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12155569	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12155618	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12543724	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12544060	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545343	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12546191	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12546382	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12547937	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12548210	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548498	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548577	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12548799	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12549257	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549483	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12549554	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12550056	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12550724	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12675768	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12679289	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12681110	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13248193	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13248998	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13250411	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13250736	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13252848	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13255475	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13256253	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13258079	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13258768	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13258848	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13261347	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13267496	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13268205	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268539	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13269305	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13269329	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13269481	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13270125	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13272518	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13275217	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13278395	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13279029	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28415210	0.93[ASN][1000 genomes]
rs35648205	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3924784	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3924785	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4073756	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4128974	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4128975	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4128976	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4132023	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4132316	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4242314	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4256629	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4279642	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4285526	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4300045	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4310246	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4317615	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4379488	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4380980	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4409429	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4431630	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4469500	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4471090	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4486250	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4537340	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4545141	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4548223	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4573323	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4601362	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4604482	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4634687	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4637891	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4644304	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4644305	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4870731	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871062	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56099013	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61675238	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6469923	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469924	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469925	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469930	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6469932	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469933	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469934	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6650	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6980923	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6982091	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6987371	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6991421	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6991614	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7000801	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7001860	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7003420	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7004725	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7004954	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7005391	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7007857	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7009002	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7009779	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7015268	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7015843	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7016071	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7017154	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7461458	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7464523	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7464526	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7465620	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7814311	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7815522	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7819820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7820316	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822421	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7824600	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842992	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7843061	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7843106	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7844850	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297616	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9642849	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9642851	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9643145	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643146	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9649950	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9693258	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121369600-121406200	Weak transcription	Left Ventricle	heart
2	chr8:121391200-121406600	Weak transcription	NHLF	lung
3	chr8:121391400-121407000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:121392800-121403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:121396600-121407200	Weak transcription	HSMM	muscle
6	chr8:121396800-121416800	Weak transcription	Aorta	Aorta
7	chr8:121397000-121407000	Weak transcription	HSMMtube	muscle
8	chr8:121397000-121407200	Weak transcription	Fetal Heart	heart
9	chr8:121397200-121404800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:121397200-121404800	Weak transcription	Osteobl	bone
11	chr8:121399800-121402800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:121400400-121403200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:121400600-121402800	Weak transcription	Thymus	Thymus
14	chr8:121400600-121403200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:121400800-121404000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:121400800-121406400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:121401000-121403400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:121401200-121406600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:121401200-121410000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:121401400-121404000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:121401400-121404800	Weak transcription	Fetal Kidney	kidney
22	chr8:121401400-121410400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:121401600-121404000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr8:121401600-121406600	Weak transcription	Placenta	Placenta
25	chr8:121401800-121404600	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:121402000-121403200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr8:121402000-121403600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:121402000-121403600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:121402000-121404000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:121402000-121405000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
32	chr8:121402200-121402800	Enhancers	Liver	Liver
33	chr8:121402200-121402800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:121402200-121403000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:121402200-121403600	ZNF genes & repeats	Fetal Brain Male	brain
36	chr8:121402200-121403600	ZNF genes & repeats	Fetal Lung	lung
37	chr8:121402200-121404200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr8:121402200-121405200	ZNF genes & repeats	Fetal Muscle Leg	muscle
39	chr8:121402200-121415600	Weak transcription	Esophagus	oesophagus
40	chr8:121402200-121416200	Weak transcription	Stomach Mucosa	stomach
41	chr8:121402400-121402800	ZNF genes & repeats	Primary B cells from cord blood	blood
42	chr8:121402400-121402800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:121402400-121403200	Weak transcription	Primary T cells from cord blood	blood
44	chr8:121402400-121403600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:121402400-121404000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:121402400-121404400	ZNF genes & repeats	Lung	lung
47	chr8:121402400-121404600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:121402400-121404600	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr8:121402400-121405000	ZNF genes & repeats	Brain Germinal Matrix	brain
50	chr8:121402400-121405200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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