Variant report

Variant	rs4566647
Chromosome Location	chr4:82087466-82087467
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	chr4:82084510..82088075-chr4:82091925..82095103,3	K562	blood:

Variant related genes	Relation type
ENSG00000251059	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10003341	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10005912	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10516650	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11099460	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11722020	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11733213	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11933194	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12330930	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12331759	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12331821	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12332035	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12643702	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12651341	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1517547	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1545287	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1546651	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1972127	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2028642	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28419569	0.89[EUR][1000 genomes]
rs28445932	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28491787	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28669195	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2868141	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28783134	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2903751	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3733550	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3943629	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56008646	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56061857	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59441619	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59896344	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60111302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60138132	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60510576	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6828114	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6848802	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6857403	0.84[EUR][1000 genomes]
rs72878860	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72879491	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72879493	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72879502	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72880604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72881305	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7687258	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs984924	0.82[EUR][1000 genomes]
rs986290	0.95[EUR][1000 genomes];0.90[ASN][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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829984	chr4:81979988-82113977	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1822437	chr4:82025743-82118996	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82084000-82087600	Enhancers	Fetal Intestine Small	intestine
2	chr4:82085400-82087800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:82085400-82088200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:82085400-82088200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:82085600-82089800	Enhancers	Fetal Brain Male	brain
6	chr4:82085800-82087800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:82085800-82088000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:82085800-82088000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:82086000-82087800	Enhancers	Brain Germinal Matrix	brain
10	chr4:82086200-82097000	Weak transcription	NHLF	lung
11	chr4:82086400-82087600	Enhancers	A549	lung
12	chr4:82086400-82087800	Enhancers	NH-A	brain
13	chr4:82086600-82088200	Enhancers	HMEC	breast
14	chr4:82086600-82104800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:82086800-82088000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:82086800-82088200	Flanking Active TSS	Fetal Brain Female	brain
17	chr4:82087200-82087600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:82087200-82087600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:82087200-82087800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:82087200-82087800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:82087200-82088000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:82087200-82088000	Genic enhancers	Fetal Intestine Large	intestine
23	chr4:82087200-82088000	Enhancers	Dnd41	blood
24	chr4:82087200-82088200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:82087400-82087600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:82087400-82087600	Flanking Active TSS	NHDF-Ad	bronchial
27	chr4:82087400-82087600	Enhancers	NHEK	skin
28	chr4:82087400-82087800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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