Variant report

Variant	rs73106347
Chromosome Location	chr5:52182102-52182103
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:52181692-52182225	SH-SY5Y	brain:	n/a	chr5:52182195-52182205

Variant related genes	Relation type
ENSG00000251237	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16880415	1.00[AFR][1000 genomes]
rs16880427	1.00[AFR][1000 genomes]
rs57591764	0.93[AFR][1000 genomes]
rs59689197	0.93[AFR][1000 genomes]
rs73106343	1.00[AFR][1000 genomes]
rs73108325	0.93[AFR][1000 genomes]
rs7714310	0.93[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	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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52142000-52220200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:52159800-52191800	Weak transcription	Pancreas	Pancrea
3	chr5:52161000-52183200	Weak transcription	Fetal Stomach	stomach
4	chr5:52161000-52191000	Weak transcription	Ovary	ovary
5	chr5:52163400-52183000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:52163600-52191000	Weak transcription	Right Ventricle	heart
7	chr5:52165000-52183800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:52166600-52188400	Weak transcription	Small Intestine	intestine
9	chr5:52166800-52183000	Weak transcription	Aorta	Aorta
10	chr5:52166800-52183800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:52166800-52183800	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:52166800-52191800	Weak transcription	Lung	lung
13	chr5:52166800-52214800	Weak transcription	Spleen	Spleen
14	chr5:52167000-52188000	Weak transcription	NHLF	lung
15	chr5:52167000-52188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:52167600-52184000	Weak transcription	Fetal Lung	lung
17	chr5:52168600-52191800	Weak transcription	Gastric	stomach
18	chr5:52170400-52183600	Weak transcription	HSMMtube	muscle
19	chr5:52171600-52191000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:52172400-52183800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:52173800-52183000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:52174000-52182600	Weak transcription	Left Ventricle	heart
23	chr5:52174000-52182800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:52174600-52188400	Weak transcription	NHDF-Ad	bronchial
25	chr5:52174600-52210600	Weak transcription	Hela-S3	cervix
26	chr5:52176400-52185400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr5:52176600-52186800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:52177800-52183000	Weak transcription	Colon Smooth Muscle	Colon
29	chr5:52177800-52190400	Weak transcription	Primary T cells from cord blood	blood
30	chr5:52179000-52183000	Weak transcription	Dnd41	blood
31	chr5:52180400-52182200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr5:52180600-52182200	Enhancers	HepG2	liver
33	chr5:52180800-52183000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:52181000-52182400	Enhancers	Stomach Mucosa	stomach
35	chr5:52181000-52182800	Weak transcription	Adipose Nuclei	Adipose
36	chr5:52181000-52188600	Weak transcription	Fetal Kidney	kidney
37	chr5:52181200-52214000	Weak transcription	Placenta	Placenta
38	chr5:52181600-52183000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr5:52181600-52183800	Strong transcription	Liver	Liver
40	chr5:52181600-52184600	Weak transcription	Fetal Intestine Small	intestine
41	chr5:52181800-52182400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:52181800-52183800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:52181800-52188400	Weak transcription	Brain Anterior Caudate	brain
44	chr5:52181800-52191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:52182000-52182200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr5:52182000-52183800	Weak transcription	Fetal Intestine Large	intestine

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