Variant report

Variant	rs3857061
Chromosome Location	chr4:90686742-90686743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90684847..90686984-chr4:90687904..90690471,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10003708	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10025915	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10033209	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10433953	0.99[ASN][1000 genomes]
rs1045722	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10516844	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10516845	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11931062	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11931074	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11935469	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944331	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945223	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12648141	0.83[ASN][1000 genomes]
rs17016071	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17016188	0.84[EUR][1000 genomes]
rs17016193	0.84[EUR][1000 genomes]
rs17016235	0.84[EUR][1000 genomes]
rs2298727	0.84[EUR][1000 genomes]
rs2298728	0.84[EUR][1000 genomes]
rs2737029	1.00[ASN][1000 genomes]
rs28393675	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28412513	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28613708	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28781297	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34164595	0.84[EUR][1000 genomes]
rs35495602	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35541731	0.83[ASN][1000 genomes]
rs356165	0.83[ASN][1000 genomes]
rs356203	0.83[ASN][1000 genomes]
rs35897584	0.84[EUR][1000 genomes]
rs3756054	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3775422	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3775423	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3775424	0.83[ASN][1000 genomes]
rs3775427	1.00[ASN][1000 genomes]
rs3775433	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775434	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3775439	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3796661	1.00[ASN][1000 genomes]
rs3822086	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3822089	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3822090	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3857051	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3857052	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3857053	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3857057	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3857058	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3857059	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3899608	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3933594	0.84[AMR][1000 genomes]
rs4031753	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4088093	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4088094	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58054215	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60031383	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61032876	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6532190	0.84[EUR][1000 genomes]
rs6818319	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6822088	0.92[ASN][1000 genomes]
rs6826785	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6834765	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73831461	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7436973	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7655611	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655792	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7661330	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7675290	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7681312	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7681815	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7684318	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7690873	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698672	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8180209	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8180214	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs894278	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv879536	chr4:90678541-90775212	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 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	chr4:90675000-90687000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:90675200-90687000	Weak transcription	Fetal Kidney	kidney
5	chr4:90675400-90687000	Weak transcription	Fetal Brain Male	brain
6	chr4:90675400-90696200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:90676000-90686800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:90676200-90709200	Weak transcription	HUVEC	blood vessel
9	chr4:90683000-90686800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:90683200-90686800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr4:90683600-90687200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:90683600-90689200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:90684600-90687200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:90685200-90686800	Weak transcription	Fetal Heart	heart
15	chr4:90685200-90696400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:90686000-90687000	Enhancers	Fetal Lung	lung
17	chr4:90686000-90687800	Enhancers	Brain Hippocampus Middle	brain
18	chr4:90686200-90687600	Enhancers	Brain Anterior Caudate	brain
19	chr4:90686200-90687600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr4:90686200-90688200	Enhancers	Brain Substantia Nigra	brain
21	chr4:90686400-90687000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:90686400-90687400	Enhancers	Left Ventricle	heart
23	chr4:90686400-90687400	Enhancers	Rectal Smooth Muscle	rectum
24	chr4:90686400-90687600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:90686400-90687600	Enhancers	NHEK	skin

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