Variant report

Variant	rs60440859
Chromosome Location	chr8:61474879-61474880
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61471508..61475092-chr8:61475799..61479657,3	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10504313	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11984591	0.85[ASN][1000 genomes]
rs11984682	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11985737	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11987024	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11988169	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11988323	0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11988389	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11991778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11996337	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16926248	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16926250	0.83[AMR][1000 genomes]
rs16926256	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16926277	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16926304	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16926305	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16926308	0.85[ASN][1000 genomes]
rs16926311	0.85[ASN][1000 genomes]
rs16926338	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2326572	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2930038	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2930041	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2946149	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2946150	0.85[ASN][1000 genomes]
rs2981283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60504642	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61174790	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61291329	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6471887	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6987831	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7000882	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7001063	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7005259	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7016173	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73243810	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257409	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257414	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257427	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257433	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257434	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257435	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257440	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257481	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257484	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73257486	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257487	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257495	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257499	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73259425	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73259430	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73259438	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73259453	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73259488	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73259499	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73261204	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73261219	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73261234	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73261269	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7341555	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7341633	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7815886	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7816273	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7825285	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7827528	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7834982	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7839008	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3384611	chr8:61461615-61480346	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61434800-61480600	Weak transcription	HMEC	breast
2	chr8:61438000-61488600	Weak transcription	Fetal Brain Female	brain
3	chr8:61439400-61494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:61440800-61480000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:61448600-61505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:61451400-61482200	Weak transcription	Right Ventricle	heart
7	chr8:61451800-61475800	Weak transcription	Fetal Heart	heart
8	chr8:61455800-61475400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:61457800-61475800	Weak transcription	K562	blood
10	chr8:61458200-61480600	Weak transcription	Gastric	stomach
11	chr8:61458200-61497000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:61459400-61495800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:61463600-61482200	Weak transcription	Esophagus	oesophagus
14	chr8:61466400-61516800	Weak transcription	Stomach Mucosa	stomach
15	chr8:61467000-61476000	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:61467200-61515400	Weak transcription	Fetal Brain Male	brain
17	chr8:61468000-61482200	Weak transcription	Aorta	Aorta
18	chr8:61468800-61488600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:61469000-61495000	Weak transcription	Brain Germinal Matrix	brain
20	chr8:61469400-61488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:61470000-61477200	Strong transcription	Primary T cells from cord blood	blood
22	chr8:61470200-61478000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:61470400-61476800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr8:61470800-61476400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:61470800-61477000	Strong transcription	Primary hematopoietic stem cells	blood
26	chr8:61470800-61478000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr8:61471200-61475000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:61471200-61475000	Strong transcription	Fetal Thymus	thymus
29	chr8:61471400-61475200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:61471400-61476200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:61471400-61477800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:61471400-61477800	Strong transcription	Dnd41	blood
33	chr8:61471600-61475000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:61471600-61475400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:61471600-61477800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:61471800-61475200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:61471800-61476600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:61471800-61477800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:61472000-61476400	Strong transcription	Primary B cells from peripheral blood	blood
40	chr8:61472000-61478000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:61472000-61488800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:61472400-61475200	Strong transcription	A549	lung
43	chr8:61472400-61475600	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr8:61472400-61476600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:61472400-61477800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr8:61472400-61478000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:61472400-61478000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:61472400-61479200	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr8:61472600-61475000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr8:61472600-61475200	Strong transcription	Fetal Muscle Trunk	muscle

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