Variant report

Variant	rs73845486
Chromosome Location	chr4:121679165-121679166
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10003374	0.87[EUR][1000 genomes]
rs10026006	0.87[EUR][1000 genomes]
rs11933936	0.91[EUR][1000 genomes]
rs11941156	0.91[EUR][1000 genomes]
rs1511310	0.87[EUR][1000 genomes]
rs1588522	0.91[EUR][1000 genomes]
rs17051242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051245	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17051247	1.00[AMR][1000 genomes]
rs28362092	0.91[EUR][1000 genomes]
rs28846396	0.91[EUR][1000 genomes]
rs56073722	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58779616	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59281550	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60371752	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6818794	0.91[EUR][1000 genomes]
rs6826221	0.87[EUR][1000 genomes]
rs6826227	0.91[EUR][1000 genomes]
rs73845478	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73845480	0.83[AMR][1000 genomes]
rs73845482	0.96[EUR][1000 genomes]
rs73845483	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9992625	0.91[EUR][1000 genomes]
rs9996180	0.91[EUR][1000 genomes]
rs9998810	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1004485	chr4:121542992-121716769	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv916737	chr4:121589793-121748847	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121652600-121687000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:121668400-121690400	Weak transcription	Osteobl	bone
3	chr4:121671800-121684200	Weak transcription	Ovary	ovary
4	chr4:121671800-121697000	Weak transcription	Pancreas	Pancrea
5	chr4:121671800-121728600	Weak transcription	Left Ventricle	heart
6	chr4:121672000-121722400	Weak transcription	Right Ventricle	heart
7	chr4:121672400-121680800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:121672400-121690400	Weak transcription	Lung	lung
9	chr4:121672400-121728800	Weak transcription	Aorta	Aorta
10	chr4:121672400-121728800	Weak transcription	Fetal Stomach	stomach
11	chr4:121673000-121690200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:121673000-121697200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:121673000-121705200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:121673000-121722400	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:121673000-121737400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:121673200-121685600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:121673200-121690400	Weak transcription	Fetal Lung	lung
18	chr4:121673400-121690400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:121673600-121692800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:121675400-121693000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:121676000-121680400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:121676200-121680400	Weak transcription	Fetal Heart	heart
23	chr4:121677000-121702800	Weak transcription	Gastric	stomach
24	chr4:121677000-121707800	Weak transcription	Psoas Muscle	Psoas
25	chr4:121677200-121714000	Weak transcription	Fetal Intestine Large	intestine
26	chr4:121677200-121723400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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