Variant report

Variant	rs72954898
Chromosome Location	chr4:152545967-152545968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10002512	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10002750	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10010061	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10014639	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10015816	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10017489	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10020313	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10027105	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10032584	1.00[AMR][1000 genomes]
rs10034746	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10212987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10213361	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471071	1.00[AMR][1000 genomes]
rs10471072	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13353741	1.00[AMR][1000 genomes]
rs13435896	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027673	0.89[AFR][1000 genomes]
rs17027675	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027703	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027710	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027725	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027738	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027739	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027742	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027757	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17027762	1.00[AMR][1000 genomes]
rs17027764	1.00[AMR][1000 genomes]
rs17027767	1.00[AMR][1000 genomes]
rs28404927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28417352	1.00[AMR][1000 genomes]
rs28454065	1.00[AMR][1000 genomes]
rs28461656	1.00[AMR][1000 genomes]
rs28494961	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28539581	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28540596	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28558989	1.00[AMR][1000 genomes]
rs28591074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28595853	1.00[AMR][1000 genomes]
rs28618192	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28634312	1.00[AMR][1000 genomes]
rs28656459	1.00[AMR][1000 genomes]
rs28722860	1.00[AMR][1000 genomes]
rs28788179	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28798801	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28822494	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28836879	0.95[AFR][1000 genomes]
rs28837860	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28884810	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57562339	1.00[AMR][1000 genomes]
rs61653326	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954810	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72956911	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72956926	1.00[AMR][1000 genomes]
rs72956927	1.00[AMR][1000 genomes]
rs9307882	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9307883	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9307884	1.00[AMR][1000 genomes]
rs9307885	1.00[AMR][1000 genomes]
rs9683731	1.00[AMR][1000 genomes]
rs9994720	1.00[AMR][1000 genomes]
rs9997778	0.95[AFR][1000 genomes];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	nsv880624	chr4:152280646-152549112	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv881342	chr4:152363772-152560449	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830114	chr4:152401288-152548606	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152499200-152567600	Weak transcription	Pancreas	Pancrea
2	chr4:152521600-152546200	Weak transcription	Right Ventricle	heart
3	chr4:152522400-152548400	Weak transcription	NHEK	skin
4	chr4:152522400-152560200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:152522600-152548400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:152528400-152548600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:152540400-152546200	Weak transcription	Psoas Muscle	Psoas
8	chr4:152542400-152565600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:152544000-152570600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr4:152544200-152566400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:152544400-152546600	Enhancers	Ovary	ovary
12	chr4:152544400-152547200	Weak transcription	HepG2	liver
13	chr4:152544400-152549000	Weak transcription	Fetal Heart	heart
14	chr4:152544400-152570600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:152544600-152546000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:152544600-152546200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:152545000-152546400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:152545000-152546400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:152545200-152546400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:152545400-152546000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:152545400-152546400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:152545400-152546400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:152545400-152546400	Enhancers	Fetal Muscle Leg	muscle
24	chr4:152545400-152546400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:152545400-152546600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:152545400-152546800	Enhancers	Fetal Brain Male	brain
27	chr4:152545400-152549200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr4:152545600-152578600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:152545800-152546000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr4:152545800-152546000	Enhancers	Lung	lung
31	chr4:152545800-152546400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr4:152545800-152546600	Enhancers	Fetal Brain Female	brain

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