Variant report

Variant	rs73108325
Chromosome Location	chr5:52193391-52193392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16880415	0.93[AFR][1000 genomes]
rs16880427	0.93[AFR][1000 genomes]
rs57591764	1.00[AFR][1000 genomes]
rs59689197	1.00[AFR][1000 genomes]
rs73106343	0.93[AFR][1000 genomes]
rs73106347	0.93[AFR][1000 genomes]
rs73108322	0.86[AFR][1000 genomes]
rs7714310	1.00[AFR][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	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
2	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
3	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
4	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
5	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	chr5:52188000-52193600	Enhancers	NHLF	lung
7	chr5:52188200-52193400	Enhancers	Osteobl	bone
8	chr5:52188800-52218200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:52188800-52228200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:52189200-52211000	Weak transcription	Fetal Intestine Small	intestine
11	chr5:52189800-52210800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:52190000-52197600	Weak transcription	Psoas Muscle	Psoas
13	chr5:52190200-52193600	Enhancers	NHDF-Ad	bronchial
14	chr5:52191400-52200200	Strong transcription	Liver	Liver
15	chr5:52191600-52218400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:52191800-52193400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:52191800-52195200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:52191800-52196000	Strong transcription	Dnd41	blood
19	chr5:52192000-52193400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:52192000-52195200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:52192000-52200000	Weak transcription	Gastric	stomach
22	chr5:52192200-52193400	Enhancers	Aorta	Aorta
23	chr5:52192200-52194800	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:52192200-52194800	Enhancers	HSMMtube	muscle
25	chr5:52192200-52198400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:52192200-52203200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:52192200-52205200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:52192200-52211000	Weak transcription	Right Ventricle	heart
29	chr5:52192200-52218400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:52192200-52219600	Weak transcription	Fetal Stomach	stomach
31	chr5:52192200-52220000	Weak transcription	Lung	lung
32	chr5:52192400-52195200	Strong transcription	Left Ventricle	heart
33	chr5:52192400-52195400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:52192400-52196800	Weak transcription	Primary T cells from cord blood	blood
35	chr5:52192600-52193400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:52192600-52195000	Weak transcription	Thymus	Thymus
37	chr5:52192800-52196000	Strong transcription	Colon Smooth Muscle	Colon
38	chr5:52192800-52198800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:52193000-52193400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:52193000-52193400	Strong transcription	Fetal Intestine Large	intestine
41	chr5:52193000-52194200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr5:52193000-52200200	Strong transcription	Stomach Smooth Muscle	stomach
43	chr5:52193000-52211000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:52193200-52193400	Genic enhancers	Adipose Nuclei	Adipose
45	chr5:52193200-52193400	Weak transcription	Fetal Lung	lung
46	chr5:52193200-52194200	Weak transcription	Fetal Thymus	thymus
47	chr5:52193200-52194800	Weak transcription	HSMM	muscle
48	chr5:52193200-52205600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:52193200-52218400	Weak transcription	Fetal Kidney	kidney

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