Variant report

Variant	rs73108322
Chromosome Location	chr5:52193146-52193147
allele	A/G
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	1.00[AMR][1000 genomes]
rs10051793	1.00[AMR][1000 genomes]
rs10054754	1.00[AMR][1000 genomes]
rs10060045	1.00[AMR][1000 genomes]
rs10063089	1.00[AMR][1000 genomes]
rs10078136	1.00[AMR][1000 genomes]
rs10471821	1.00[AMR][1000 genomes]
rs13357745	1.00[AMR][1000 genomes]
rs13360413	1.00[AMR][1000 genomes]
rs28666730	1.00[AMR][1000 genomes]
rs28701709	1.00[AMR][1000 genomes]
rs57591764	0.86[AFR][1000 genomes]
rs58967333	1.00[AMR][1000 genomes]
rs59337949	1.00[AMR][1000 genomes]
rs59689197	0.86[AFR][1000 genomes]
rs61126266	1.00[AMR][1000 genomes]
rs6882082	1.00[AMR][1000 genomes]
rs6886933	1.00[AMR][1000 genomes]
rs73108325	0.86[AFR][1000 genomes]
rs7714310	0.86[AFR][1000 genomes]
rs9291996	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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52142000-52220200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:52166800-52214800	Weak transcription	Spleen	Spleen
3	chr5:52174600-52210600	Weak transcription	Hela-S3	cervix
4	chr5:52181200-52214000	Weak transcription	Placenta	Placenta
5	chr5:52183600-52199000	Weak transcription	Colonic Mucosa	Colon
6	chr5:52188000-52193200	Enhancers	Fetal Lung	lung
7	chr5:52188000-52193600	Enhancers	NHLF	lung
8	chr5:52188200-52193400	Enhancers	Osteobl	bone
9	chr5:52188800-52218200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:52188800-52228200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:52189200-52193200	Enhancers	Adipose Nuclei	Adipose
12	chr5:52189200-52211000	Weak transcription	Fetal Intestine Small	intestine
13	chr5:52189400-52193200	Enhancers	HSMM	muscle
14	chr5:52189800-52210800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:52190000-52197600	Weak transcription	Psoas Muscle	Psoas
16	chr5:52190200-52193600	Enhancers	NHDF-Ad	bronchial
17	chr5:52190400-52193200	Enhancers	Fetal Thymus	thymus
18	chr5:52191400-52200200	Strong transcription	Liver	Liver
19	chr5:52191600-52193200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:52191600-52218400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:52191800-52193200	Enhancers	Fetal Kidney	kidney
22	chr5:52191800-52193400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:52191800-52195200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:52191800-52196000	Strong transcription	Dnd41	blood
25	chr5:52192000-52193400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:52192000-52195200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr5:52192000-52200000	Weak transcription	Gastric	stomach
28	chr5:52192200-52193400	Enhancers	Aorta	Aorta
29	chr5:52192200-52194800	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:52192200-52194800	Enhancers	HSMMtube	muscle
31	chr5:52192200-52198400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:52192200-52203200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:52192200-52205200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:52192200-52211000	Weak transcription	Right Ventricle	heart
35	chr5:52192200-52218400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:52192200-52219600	Weak transcription	Fetal Stomach	stomach
37	chr5:52192200-52220000	Weak transcription	Lung	lung
38	chr5:52192400-52195200	Strong transcription	Left Ventricle	heart
39	chr5:52192400-52195400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:52192400-52196800	Weak transcription	Primary T cells from cord blood	blood
41	chr5:52192600-52193400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr5:52192600-52195000	Weak transcription	Thymus	Thymus
43	chr5:52192800-52196000	Strong transcription	Colon Smooth Muscle	Colon
44	chr5:52192800-52198800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:52193000-52193400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:52193000-52193400	Strong transcription	Fetal Intestine Large	intestine
47	chr5:52193000-52194200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:52193000-52200200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr5:52193000-52211000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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