Variant report

Variant	rs60144080
Chromosome Location	chr10:97573405-97573406
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	chr10:97572611..97574483-chr10:97578100..97579949,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11188419	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188424	0.83[EUR][1000 genomes]
rs11188431	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11188448	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11188450	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11188451	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11188461	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11188466	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11188467	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11188469	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11188475	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11188479	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11188481	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11188491	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188502	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11188508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11553577	0.81[EUR][1000 genomes]
rs12355114	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12357211	0.80[EUR][1000 genomes]
rs12358517	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2275760	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3176882	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3181121	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3818833	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41291576	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4420188	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4512762	0.82[ASN][1000 genomes]
rs56747025	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57456033	0.90[AMR][1000 genomes]
rs58169787	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59502315	0.88[ASN][1000 genomes]
rs61503377	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61731067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7070507	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7090630	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7093453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7100644	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73315224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73315254	0.88[ASN][1000 genomes]
rs73315260	0.91[ASN][1000 genomes]
rs73315285	0.82[ASN][1000 genomes]
rs73317145	0.82[ASN][1000 genomes]
rs73329287	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73331134	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73333021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7898422	0.91[ASN][1000 genomes]
rs7913155	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv895905	chr10:97513362-97686064	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv895906	chr10:97513362-97703650	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv895907	chr10:97529318-97686064	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv895908	chr10:97544513-97724247	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97553000-97576200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:97567200-97573800	Weak transcription	Primary B cells from cord blood	blood
3	chr10:97567400-97573600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr10:97570400-97577600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:97571200-97573800	Genic enhancers	GM12878-XiMat	blood
6	chr10:97572000-97575200	Enhancers	HepG2	liver
7	chr10:97573000-97573800	Enhancers	Brain Cingulate Gyrus	brain
8	chr10:97573000-97574400	Enhancers	NHDF-Ad	bronchial
9	chr10:97573000-97575400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr10:97573000-97575400	Enhancers	Brain Anterior Caudate	brain
11	chr10:97573000-97575800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr10:97573000-97575800	Enhancers	Brain Hippocampus Middle	brain
13	chr10:97573200-97574000	Enhancers	Esophagus	oesophagus
14	chr10:97573200-97574200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr10:97573200-97574200	Enhancers	Adipose Nuclei	Adipose
16	chr10:97573200-97574200	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr10:97573200-97574400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr10:97573200-97574400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:97573200-97574400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr10:97573200-97574400	Enhancers	Fetal Muscle Leg	muscle
21	chr10:97573200-97574400	Enhancers	Placenta	Placenta
22	chr10:97573200-97574400	Enhancers	Left Ventricle	heart
23	chr10:97573200-97574400	Enhancers	Lung	lung
24	chr10:97573200-97574400	Enhancers	Spleen	Spleen
25	chr10:97573200-97574600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr10:97573200-97574800	Enhancers	HMEC	breast
27	chr10:97573200-97574800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr10:97573200-97575000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr10:97573200-97575200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr10:97573200-97575200	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr10:97573200-97575800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:97573200-97575800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr10:97573200-97580000	Enhancers	HUVEC	blood vessel
34	chr10:97573400-97573800	Enhancers	Colon Smooth Muscle	Colon
35	chr10:97573400-97574200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr10:97573400-97574200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr10:97573400-97574400	Enhancers	Osteobl	bone
38	chr10:97573400-97574600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:97573400-97574600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr10:97573400-97575400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr10:97573400-97575800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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