Variant report

Variant	rs17023280
Chromosome Location	chr4:96138500-96138501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16996454	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023283	1.00[AMR][1000 genomes]
rs17023289	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023302	1.00[AMR][1000 genomes]
rs17023315	1.00[AMR][1000 genomes]
rs56213435	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56952424	1.00[AMR][1000 genomes]
rs60269430	1.00[AMR][1000 genomes]
rs72881231	1.00[AMR][1000 genomes]
rs73837511	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73837513	1.00[AMR][1000 genomes]
rs73837514	1.00[AMR][1000 genomes]
rs73839929	1.00[AMR][1000 genomes]
rs7674572	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	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv879623	chr4:96123466-96168719	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 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	chr4:96100000-96143000	Weak transcription	Fetal Kidney	kidney
2	chr4:96134400-96142600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:96134600-96138600	Enhancers	K562	blood
4	chr4:96134600-96176800	Weak transcription	Fetal Stomach	stomach
5	chr4:96134800-96140200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:96134800-96147000	Weak transcription	Brain Anterior Caudate	brain
7	chr4:96135200-96146800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr4:96135600-96153600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:96135800-96140000	Weak transcription	Brain Angular Gyrus	brain
10	chr4:96135800-96140000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:96136800-96140800	Strong transcription	Brain Hippocampus Middle	brain
12	chr4:96136800-96141200	Weak transcription	Brain Substantia Nigra	brain
13	chr4:96137200-96145000	Weak transcription	Fetal Brain Male	brain
14	chr4:96137400-96139400	Weak transcription	Fetal Lung	lung
15	chr4:96137400-96140200	Weak transcription	HSMMtube	muscle
16	chr4:96137600-96138600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:96137600-96138600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr4:96137600-96139800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:96137600-96143000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:96137800-96138600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:96138000-96138600	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr4:96138000-96138600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr4:96138000-96140000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:96138000-96141000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:96138200-96138800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:96138200-96139400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:96138200-96139600	Weak transcription	Aorta	Aorta
28	chr4:96138200-96140000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr4:96138200-96140000	Weak transcription	HSMM	muscle
30	chr4:96138200-96140200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:96138200-96147800	Weak transcription	Ovary	ovary
32	chr4:96138400-96138600	Enhancers	Primary hematopoietic stem cells	blood
33	chr4:96138400-96140000	Weak transcription	Osteobl	bone
34	chr4:96138400-96140200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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