Variant report

Variant	rs17016100
Chromosome Location	chr4:90677801-90677802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10516847	1.00[YRI][hapmap]
rs17016074	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17016083	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17016107	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17016126	1.00[YRI][hapmap]
rs2882785	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34094566	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34351491	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34747217	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35683448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35771728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35921673	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3729594	1.00[YRI][hapmap]
rs3775435	1.00[YRI][hapmap]
rs3775438	1.00[YRI][hapmap]
rs3775442	1.00[YRI][hapmap]
rs3775444	1.00[YRI][hapmap]
rs3775450	1.00[YRI][hapmap]
rs3822088	1.00[YRI][hapmap]
rs3822091	1.00[YRI][hapmap]
rs3857054	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3857056	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3857060	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3898322	1.00[YRI][hapmap]
rs4635786	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57267227	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57928386	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61378184	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532185	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532186	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532187	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6532188	1.00[EUR][1000 genomes]
rs6814056	1.00[EUR][1000 genomes]
rs6842093	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs961386	1.00[YRI][hapmap]

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	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking 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 miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90649400-90696400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:90663400-90691400	Weak transcription	Dnd41	blood
3	chr4:90664600-90678000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:90673400-90679200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:90674600-90682000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:90675000-90678400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:90675000-90680000	Weak transcription	NHLF	lung
8	chr4:90675000-90680200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:90675000-90683800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:90675000-90686200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:90675000-90687000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:90675200-90680000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:90675200-90686000	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:90675200-90687000	Weak transcription	Fetal Kidney	kidney
15	chr4:90675400-90680000	Weak transcription	Hela-S3	cervix
16	chr4:90675400-90687000	Weak transcription	Fetal Brain Male	brain
17	chr4:90675400-90696200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:90675600-90680000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:90676000-90686800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:90676200-90680000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:90676200-90709200	Weak transcription	HUVEC	blood vessel

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