Variant report

Variant	rs28701709
Chromosome Location	chr5:52142991-52142992
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	chr5:52135037..52137310-chr5:52140806..52143262,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10041465	1.00[AMR][1000 genomes]
rs10042066	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10051793	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10054754	1.00[AMR][1000 genomes]
rs10060045	1.00[AMR][1000 genomes]
rs10063089	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471821	1.00[AMR][1000 genomes]
rs13357745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13360413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16880037	1.00[AMR][1000 genomes]
rs16880039	1.00[AMR][1000 genomes]
rs28666730	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58967333	1.00[AMR][1000 genomes]
rs59337949	1.00[AMR][1000 genomes]
rs61126266	1.00[AMR][1000 genomes]
rs6450077	1.00[AMR][1000 genomes]
rs6882082	1.00[AMR][1000 genomes]
rs6886933	1.00[AMR][1000 genomes]
rs73108322	1.00[AMR][1000 genomes]
rs7729056	1.00[AMR][1000 genomes]
rs9291996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1032554	chr5:52126688-52174119	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52133200-52143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:52135800-52145400	Weak transcription	Liver	Liver
3	chr5:52136200-52161400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:52139000-52144200	Enhancers	Colon Smooth Muscle	Colon
5	chr5:52139400-52144200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:52140800-52144200	Enhancers	NHDF-Ad	bronchial
7	chr5:52141000-52146000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:52141000-52151400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:52141400-52149800	Weak transcription	Right Atrium	heart
10	chr5:52141400-52151600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:52141400-52152800	Weak transcription	Adipose Nuclei	Adipose
12	chr5:52141600-52143000	Enhancers	Rectal Smooth Muscle	rectum
13	chr5:52142000-52143800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr5:52142000-52149600	Weak transcription	Aorta	Aorta
15	chr5:52142000-52220200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr5:52142200-52143400	Weak transcription	Left Ventricle	heart
17	chr5:52142200-52149800	Weak transcription	Fetal Intestine Small	intestine
18	chr5:52142200-52166400	Weak transcription	Spleen	Spleen
19	chr5:52142400-52143400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:52142400-52144000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:52142600-52143000	Enhancers	Stomach Smooth Muscle	stomach
22	chr5:52142600-52143400	Weak transcription	Small Intestine	intestine
23	chr5:52142600-52149400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:52142600-52149400	Weak transcription	Fetal Stomach	stomach
25	chr5:52142600-52153600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:52142800-52146600	Weak transcription	Dnd41	blood
27	chr5:52142800-52148200	Weak transcription	Fetal Lung	lung
28	chr5:52142800-52149400	Weak transcription	Fetal Kidney	kidney
29	chr5:52142800-52149600	Weak transcription	NHLF	lung
30	chr5:52142800-52149800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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