Variant report

Variant	rs57378513
Chromosome Location	chr4:186768428-186768429
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11724690	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11728712	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1869622	0.81[EUR][1000 genomes]
rs6552929	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6822562	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827452	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6828112	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6837741	0.82[EUR][1000 genomes]
rs6838265	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72705761	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72707637	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72707639	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72707647	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7654779	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7676978	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7696225	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7696852	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186761200-186778400	Weak transcription	Aorta	Aorta
2	chr4:186762400-186768600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:186762400-186768600	Weak transcription	Left Ventricle	heart
4	chr4:186762600-186768800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:186762800-186768600	Weak transcription	Right Ventricle	heart
6	chr4:186764400-186768600	Weak transcription	Pancreas	Pancrea
7	chr4:186765600-186768600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:186765600-186768600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:186767000-186768800	Enhancers	Fetal Heart	heart
10	chr4:186767400-186768600	Enhancers	Hela-S3	cervix
11	chr4:186767600-186768600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:186767600-186769400	Enhancers	NHEK	skin
13	chr4:186767800-186768600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:186767800-186768600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:186767800-186768600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:186767800-186769200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:186767800-186769200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:186767800-186769200	Enhancers	HMEC	breast
19	chr4:186767800-186769200	Enhancers	NHLF	lung
20	chr4:186767800-186769400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:186767800-186769400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:186767800-186769400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:186767800-186769400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:186767800-186769400	Enhancers	Fetal Muscle Leg	muscle
25	chr4:186768000-186768600	Enhancers	A549	lung
26	chr4:186768200-186769000	Enhancers	Adipose Nuclei	Adipose
27	chr4:186768200-186769000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:186768400-186768600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr4:186768400-186768600	Flanking Active TSS	NH-A	brain
30	chr4:186768400-186768600	Enhancers	NHDF-Ad	bronchial
31	chr4:186768400-186769000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr4:186768400-186769000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:186768400-186769000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:186768400-186769000	Enhancers	Fetal Lung	lung
35	chr4:186768400-186769000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr4:186768400-186769200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:186768400-186769200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:186768400-186769200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr4:186768400-186769200	Flanking Active TSS	HSMM	muscle
40	chr4:186768400-186769200	Flanking Active TSS	Osteobl	bone
41	chr4:186768400-186769400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:186768400-186769400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:186768400-186769400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr4:186768400-186769400	Enhancers	Placenta	Placenta
45	chr4:186768400-186769400	Flanking Active TSS	HSMMtube	muscle
46	chr4:186768400-186769600	Enhancers	Placenta Amnion	Placenta Amnion

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