Variant report

Variant	rs751295
Chromosome Location	chr4:82086483-82086484
allele	A/G
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: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1078980	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11722019	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11722928	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11722958	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11736177	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11941243	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1348399	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1443535	0.93[EUR][1000 genomes]
rs1982283	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2102818	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28550691	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3733553	0.86[AMR][1000 genomes]
rs58629505	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6535234	0.82[EUR][1000 genomes]
rs7687935	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7688672	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7696645	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9992933	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82081200-82087200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:82082800-82087200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:82084000-82087600	Enhancers	Fetal Intestine Small	intestine
4	chr4:82084400-82086600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr4:82084600-82087200	Enhancers	Fetal Intestine Large	intestine
6	chr4:82085200-82086800	Enhancers	Fetal Brain Female	brain
7	chr4:82085200-82087200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:82085400-82086600	Enhancers	Hela-S3	cervix
9	chr4:82085400-82087200	Enhancers	NHEK	skin
10	chr4:82085400-82087800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:82085400-82088200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:82085400-82088200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:82085600-82089800	Enhancers	Fetal Brain Male	brain
14	chr4:82085800-82086600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:82085800-82086600	Enhancers	Fetal Muscle Leg	muscle
16	chr4:82085800-82087800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:82085800-82088000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:82085800-82088000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:82086000-82086600	Flanking Active TSS	HMEC	breast
20	chr4:82086000-82086600	Flanking Active TSS	NHDF-Ad	bronchial
21	chr4:82086000-82087800	Enhancers	Brain Germinal Matrix	brain
22	chr4:82086200-82087200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:82086200-82097000	Weak transcription	NHLF	lung
24	chr4:82086400-82087000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:82086400-82087600	Enhancers	A549	lung
26	chr4:82086400-82087800	Enhancers	NH-A	brain

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