Variant report

Variant	rs72959562
Chromosome Location	chr4:148416166-148416167
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10305845	1.00[AMR][1000 genomes]
rs10305848	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305853	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305859	1.00[AMR][1000 genomes]
rs10305869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10305885	1.00[AMR][1000 genomes]
rs11930745	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11930820	1.00[AMR][1000 genomes]
rs11933442	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11937200	1.00[AMR][1000 genomes]
rs11941665	1.00[AMR][1000 genomes]
rs11942203	1.00[AMR][1000 genomes]
rs11942234	1.00[AMR][1000 genomes]
rs11942855	1.00[AMR][1000 genomes]
rs11944922	1.00[AMR][1000 genomes]
rs11946826	1.00[AMR][1000 genomes]
rs11947440	1.00[AMR][1000 genomes]
rs1400555	1.00[AMR][1000 genomes]
rs17023371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3942348	0.83[AFR][1000 genomes]
rs56787274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57268018	1.00[AMR][1000 genomes]
rs57342589	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57772875	1.00[AMR][1000 genomes]
rs58576007	1.00[AMR][1000 genomes]
rs58791171	1.00[AMR][1000 genomes]
rs58824158	1.00[AMR][1000 genomes]
rs59458570	1.00[AMR][1000 genomes]
rs60433830	1.00[AMR][1000 genomes]
rs6818686	1.00[AMR][1000 genomes]
rs6825558	1.00[AMR][1000 genomes]
rs72953564	1.00[AMR][1000 genomes]
rs72953576	1.00[AMR][1000 genomes]
rs72953582	1.00[AMR][1000 genomes]
rs72953588	1.00[AMR][1000 genomes]
rs72953589	1.00[AMR][1000 genomes]
rs72955634	1.00[AMR][1000 genomes]
rs72955654	1.00[AMR][1000 genomes]
rs72955655	1.00[AMR][1000 genomes]
rs72955684	1.00[AMR][1000 genomes]
rs72955687	1.00[AMR][1000 genomes]
rs72959547	1.00[AMR][1000 genomes]
rs72959554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72959579	1.00[AMR][1000 genomes]
rs72959582	1.00[AMR][1000 genomes]
rs72961617	1.00[AMR][1000 genomes]
rs72961622	1.00[AMR][1000 genomes]
rs7660300	1.00[AMR][1000 genomes]
rs7684691	1.00[AMR][1000 genomes]
rs7684717	1.00[AMR][1000 genomes]
rs7684882	1.00[AMR][1000 genomes]
rs7685896	1.00[AMR][1000 genomes]
rs7685925	1.00[AMR][1000 genomes]
rs7686338	1.00[AMR][1000 genomes]
rs7686739	1.00[AMR][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	nsv830109	chr4:148295061-148468605	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv880241	chr4:148411178-148461073	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148403800-148417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:148404200-148418800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:148404200-148419000	Weak transcription	HMEC	breast
4	chr4:148404600-148419000	Weak transcription	NHLF	lung
5	chr4:148408400-148416800	Weak transcription	Right Ventricle	heart
6	chr4:148414200-148417600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:148414200-148419400	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:148414200-148419400	Weak transcription	HSMMtube	muscle
9	chr4:148414200-148430400	Weak transcription	Aorta	Aorta
10	chr4:148414400-148417000	Enhancers	Fetal Heart	heart
11	chr4:148414400-148419000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:148414400-148419000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:148414400-148419000	Weak transcription	Osteobl	bone
14	chr4:148414400-148419400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:148414400-148447400	Weak transcription	Fetal Stomach	stomach
16	chr4:148414600-148419000	Weak transcription	NH-A	brain
17	chr4:148414600-148419200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:148414600-148419400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:148414800-148419000	Weak transcription	NHDF-Ad	bronchial
20	chr4:148415400-148416400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:148415600-148416200	Enhancers	Lung	lung
22	chr4:148415600-148416400	Enhancers	Left Ventricle	heart
23	chr4:148415600-148416800	Enhancers	Ovary	ovary
24	chr4:148415800-148416600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:148415800-148416600	Weak transcription	Fetal Lung	lung
26	chr4:148415800-148416800	Weak transcription	Fetal Kidney	kidney
27	chr4:148415800-148417600	Weak transcription	NHEK	skin

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