Variant report

Variant	rs57238989
Chromosome Location	chr6:55733798-55733799
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11965332	1.00[AMR][1000 genomes]
rs2021804	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2021805	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35124644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58648346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59302865	1.00[AMR][1000 genomes]
rs6911684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73444297	1.00[AMR][1000 genomes]
rs73450204	1.00[AMR][1000 genomes]
rs73450206	1.00[AFR][1000 genomes]
rs73450209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73450212	1.00[AMR][1000 genomes]
rs73450213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73457035	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS 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	esv2752670	chr6:55614978-55781605	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1032684	chr6:55680473-55766876	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024174	chr6:55713889-55829936	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1029301	chr6:55713889-55834480	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 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	chr6:55730200-55735200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:55730200-55735200	Enhancers	NHEK	skin
3	chr6:55731200-55734000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:55731400-55734600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:55732800-55734400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:55733000-55734400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:55733200-55733800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:55733200-55733800	Enhancers	GM12878-XiMat	blood
9	chr6:55733200-55734800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:55733200-55735000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:55733200-55735200	Enhancers	HMEC	breast
12	chr6:55733200-55739000	Weak transcription	Fetal Kidney	kidney
13	chr6:55733400-55733800	Active TSS	Placenta	Placenta
14	chr6:55733400-55734200	Enhancers	Colon Smooth Muscle	Colon
15	chr6:55733400-55734400	Enhancers	Fetal Intestine Large	intestine
16	chr6:55733400-55735000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:55733400-55736200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:55733600-55734200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:55733600-55734200	Flanking Active TSS	Fetal Lung	lung
20	chr6:55733600-55734200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr6:55733600-55734200	Enhancers	A549	lung
22	chr6:55733600-55734400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:55733600-55735200	Active TSS	Fetal Heart	heart
24	chr6:55733600-55735200	Flanking Active TSS	Hela-S3	cervix
25	chr6:55733600-55740800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr6:55733600-55740800	Active TSS	Fetal Muscle Leg	muscle

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