Variant report

Variant	rs60616619
Chromosome Location	chr3:42981693-42981694
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	chr3:42976404..42980028-chr3:42981618..42984060,3	K562	blood:
2	chr3:42977585..42980028-chr3:42981618..42983637,2	K562	blood:

Variant related genes	Relation type
ENSG00000273291	Chromatin interaction
ENSG00000240747	Chromatin interaction
ENSG00000206552	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10470680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11129987	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11129988	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17074894	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1816227	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2288371	0.87[ASN][1000 genomes]
rs2288373	0.87[ASN][1000 genomes]
rs28378297	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28601753	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3915020	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs526511	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542394	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545023	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs551658	0.84[EUR][1000 genomes]
rs57113579	0.82[ASN][1000 genomes]
rs57664746	0.82[ASN][1000 genomes]
rs57795561	0.82[ASN][1000 genomes]
rs59789275	0.95[ASN][1000 genomes]
rs60046829	0.95[ASN][1000 genomes]
rs60549782	0.82[ASN][1000 genomes]
rs60607395	0.95[ASN][1000 genomes]
rs61004728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61102947	0.95[ASN][1000 genomes]
rs615462	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs619660	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62248962	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62249006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62249007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62249008	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62249009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62249011	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62249013	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62249014	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62249015	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62249016	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62249584	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs638602	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649682	0.83[EUR][1000 genomes]
rs6763762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6773223	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6775999	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6778645	0.87[ASN][1000 genomes]
rs6798412	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6798520	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704895	0.85[ASN][1000 genomes]
rs72869044	0.82[ASN][1000 genomes]
rs72869047	0.82[ASN][1000 genomes]
rs7617715	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7621158	0.95[ASN][1000 genomes]
rs7641452	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7644923	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs834183	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs834579	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs834584	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs834699	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9311330	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9311331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9808932	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9832875	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9833284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9837761	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9852930	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9858270	1.00[AMR][1000 genomes];0.98[EUR][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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42977800-42986600	Weak transcription	Fetal Brain Male	brain
2	chr3:42978200-42983400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:42978200-42983400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:42978200-42984400	Weak transcription	Aorta	Aorta
5	chr3:42978200-42984600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:42978200-42984600	Weak transcription	Psoas Muscle	Psoas
7	chr3:42978200-42984800	Weak transcription	Brain Angular Gyrus	brain
8	chr3:42978200-42984800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:42978400-42982600	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:42978400-42982600	Weak transcription	Fetal Intestine Large	intestine
11	chr3:42978400-42982600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr3:42978400-42984600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:42978400-42984800	Weak transcription	Brain Substantia Nigra	brain
14	chr3:42978400-42985000	Weak transcription	Adipose Nuclei	Adipose
15	chr3:42978400-42985200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:42978400-42985400	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:42978400-42986200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:42978400-42989000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:42978400-42990600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:42978400-42994400	Weak transcription	Fetal Stomach	stomach
21	chr3:42978400-42995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:42978400-43003000	Weak transcription	Fetal Intestine Small	intestine
23	chr3:42978400-43015400	Weak transcription	Pancreas	Pancrea
24	chr3:42978600-42982600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:42978600-42984800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:42978600-42987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:42978600-42989000	Weak transcription	Fetal Kidney	kidney
28	chr3:42978600-42991000	Weak transcription	Brain Anterior Caudate	brain
29	chr3:42978600-43003000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr3:42978600-43020400	Weak transcription	Ovary	ovary
31	chr3:42979000-42991600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:42980400-42984200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr3:42980400-42988400	Strong transcription	Placenta	Placenta
34	chr3:42981400-42995800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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