Variant report

Variant	rs28666730
Chromosome Location	chr5:52147106-52147107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10051793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10054754	1.00[AMR][1000 genomes]
rs10060045	1.00[AMR][1000 genomes]
rs10063089	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078136	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471821	1.00[AMR][1000 genomes]
rs13357745	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13360413	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16880037	1.00[AMR][1000 genomes]
rs16880039	1.00[AMR][1000 genomes]
rs28701709	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	0.92[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	chr5:52136200-52161400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr5:52141000-52151400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:52141400-52149800	Weak transcription	Right Atrium	heart
4	chr5:52141400-52151600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:52141400-52152800	Weak transcription	Adipose Nuclei	Adipose
6	chr5:52142000-52149600	Weak transcription	Aorta	Aorta
7	chr5:52142000-52220200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr5:52142200-52149800	Weak transcription	Fetal Intestine Small	intestine
9	chr5:52142200-52166400	Weak transcription	Spleen	Spleen
10	chr5:52142600-52149400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:52142600-52149400	Weak transcription	Fetal Stomach	stomach
12	chr5:52142600-52153600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:52142800-52148200	Weak transcription	Fetal Lung	lung
14	chr5:52142800-52149400	Weak transcription	Fetal Kidney	kidney
15	chr5:52142800-52149600	Weak transcription	NHLF	lung
16	chr5:52142800-52149800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:52143000-52147200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:52143600-52147400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:52143600-52149800	Weak transcription	Small Intestine	intestine
20	chr5:52143600-52173600	Weak transcription	Left Ventricle	heart
21	chr5:52143800-52159600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:52144200-52147400	Weak transcription	Colon Smooth Muscle	Colon
23	chr5:52144200-52147400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:52144200-52149800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:52145200-52157200	Weak transcription	Fetal Intestine Large	intestine
26	chr5:52145400-52148600	Strong transcription	Liver	Liver
27	chr5:52145800-52181000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:52146000-52148600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:52146600-52147600	Strong transcription	Dnd41	blood
30	chr5:52146800-52166000	Weak transcription	HepG2	liver

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