Variant report

Variant	rs72652745
Chromosome Location	chr8:67354240-67354241
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67352250..67355147-chr8:67358287..67360742,2	K562	blood:
2	chr8:67347774..67350408-chr8:67352378..67355067,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10504396	0.85[AMR][1000 genomes]
rs11987071	0.85[AMR][1000 genomes]
rs11989945	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11992832	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11993412	0.85[AMR][1000 genomes]
rs11993452	0.85[AMR][1000 genomes]
rs11994448	0.85[AMR][1000 genomes]
rs11997195	0.85[AMR][1000 genomes]
rs11998019	0.85[AMR][1000 genomes]
rs12541622	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12547412	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12549283	0.85[AMR][1000 genomes]
rs12549484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550686	0.85[AMR][1000 genomes]
rs16919046	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16932815	0.85[AMR][1000 genomes]
rs2098945	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2718999	0.81[ASN][1000 genomes]
rs28372872	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3739338	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737227	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737228	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737229	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737233	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4737785	0.85[AMR][1000 genomes]
rs4737787	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4737788	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4737793	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737794	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737795	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737796	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737799	0.92[ASN][1000 genomes]
rs55681208	0.85[AMR][1000 genomes]
rs55742362	0.85[AMR][1000 genomes]
rs56176340	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57217048	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57462183	0.85[AMR][1000 genomes]
rs57882940	0.85[AMR][1000 genomes]
rs57925216	0.85[AMR][1000 genomes]
rs57951167	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61646267	0.85[AMR][1000 genomes]
rs6472268	0.85[AMR][1000 genomes]
rs6472278	0.90[ASN][1000 genomes]
rs66470447	0.85[AMR][1000 genomes]
rs66713752	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66716606	0.85[AMR][1000 genomes]
rs66779163	0.85[AMR][1000 genomes]
rs66967250	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66996327	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67015438	0.85[AMR][1000 genomes]
rs67433773	0.90[ASN][1000 genomes]
rs67436695	0.85[AMR][1000 genomes]
rs67472590	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67556627	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67814353	0.85[AMR][1000 genomes]
rs67928664	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6985120	0.85[AMR][1000 genomes]
rs6989573	0.85[AMR][1000 genomes]
rs6993146	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6994570	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6998057	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6998839	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7001576	0.81[AMR][1000 genomes]
rs7009437	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7013081	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7014652	0.85[AMR][1000 genomes]
rs7015791	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72652713	0.85[AMR][1000 genomes]
rs72652714	0.83[AMR][1000 genomes]
rs72652715	0.85[AMR][1000 genomes]
rs72652728	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72652748	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652762	0.87[ASN][1000 genomes]
rs73247982	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73249829	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73253606	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7824057	0.85[AMR][1000 genomes]
rs7828145	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7838277	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7838488	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67352000-67358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:67352000-67363600	Weak transcription	Esophagus	oesophagus
3	chr8:67352200-67356200	Weak transcription	Liver	Liver
4	chr8:67352200-67357000	Weak transcription	Aorta	Aorta
5	chr8:67352200-67357400	Weak transcription	Brain Angular Gyrus	brain
6	chr8:67352200-67357800	Weak transcription	Left Ventricle	heart
7	chr8:67352200-67358000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:67352200-67358000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:67352200-67358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:67352200-67358000	Weak transcription	Pancreas	Pancrea
11	chr8:67352200-67360200	Weak transcription	Lung	lung
12	chr8:67352200-67360200	Weak transcription	Ovary	ovary
13	chr8:67352200-67360600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:67352200-67361000	Weak transcription	Spleen	Spleen
15	chr8:67352200-67361200	Weak transcription	Gastric	stomach
16	chr8:67352200-67361200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:67352200-67364600	Weak transcription	Psoas Muscle	Psoas
18	chr8:67352400-67356200	Weak transcription	Adipose Nuclei	Adipose
19	chr8:67352400-67357600	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:67352400-67357800	Weak transcription	Brain Anterior Caudate	brain
21	chr8:67352400-67358600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:67352400-67360200	Weak transcription	Right Ventricle	heart
23	chr8:67352400-67360800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:67352400-67361600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:67352400-67363600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:67352400-67366600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:67352600-67357400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:67352600-67358200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:67352600-67363600	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:67352800-67356800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:67352800-67357400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:67352800-67358000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr8:67353000-67358000	Weak transcription	HSMMtube	muscle
34	chr8:67353200-67358400	Weak transcription	Fetal Heart	heart
35	chr8:67353200-67361000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr8:67353200-67361200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:67353400-67357600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:67353400-67357800	Weak transcription	GM12878-XiMat	blood
39	chr8:67353400-67358000	Weak transcription	HSMM	muscle
40	chr8:67353400-67358000	Weak transcription	Osteobl	bone
41	chr8:67353400-67358400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:67353400-67358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:67353400-67365400	Weak transcription	Fetal Brain Male	brain
44	chr8:67353400-67368000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:67353600-67357400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:67353600-67357600	Weak transcription	NHDF-Ad	bronchial
47	chr8:67353600-67358000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:67353600-67358000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:67353600-67360600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr8:67353600-67365200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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