Variant report

Variant	rs297974
Chromosome Location	chr5:58954854-58954855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1370230	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs169869	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1992112	0.83[EUR][1000 genomes]
rs298054	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298055	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298057	0.86[ASN][1000 genomes]
rs298058	0.86[ASN][1000 genomes]
rs298059	0.82[ASN][1000 genomes]
rs298061	0.86[ASN][1000 genomes]
rs298062	0.83[ASN][1000 genomes]
rs298063	0.82[ASN][1000 genomes]
rs298067	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs298072	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs298074	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs298075	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs298076	0.80[EUR][1000 genomes]
rs298083	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs298084	0.82[ASN][1000 genomes]
rs298091	0.82[ASN][1000 genomes]
rs298092	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs298093	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs298096	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6865459	0.81[EUR][1000 genomes]
rs7701573	0.83[EUR][1000 genomes]
rs7701748	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv427720	chr5:58913581-59086987	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv462190	chr5:58936943-59023870	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv598258	chr5:58936943-59023870	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1034283	chr5:58940594-59040762	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv537767	chr5:58940594-59040762	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58923600-58957200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:58944800-58956400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:58948000-58961600	Weak transcription	Gastric	stomach
4	chr5:58948400-58955200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:58952000-58957600	Weak transcription	Liver	Liver
6	chr5:58952200-58956600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr5:58952400-58955200	Weak transcription	Small Intestine	intestine
8	chr5:58952400-58957600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:58952600-58955400	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:58952600-58955400	Weak transcription	Psoas Muscle	Psoas
11	chr5:58952600-58956400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:58952800-58956400	Weak transcription	HUVEC	blood vessel
13	chr5:58953000-58956400	Weak transcription	Hela-S3	cervix
14	chr5:58953200-58955200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:58954400-58957800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:58954600-58955600	Flanking Active TSS	A549	lung
17	chr5:58954600-58956800	Enhancers	Primary B cells from peripheral blood	blood
18	chr5:58954600-58957800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr5:58954600-58958600	Enhancers	Stomach Mucosa	stomach
20	chr5:58954800-58955200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:58954800-58955200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:58954800-58955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:58954800-58955400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:58954800-58955600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:58954800-58956600	Enhancers	Fetal Intestine Large	intestine
26	chr5:58954800-58957800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:58954800-58958000	Enhancers	Primary hematopoietic stem cells	blood
28	chr5:58954800-58958400	Enhancers	Fetal Intestine Small	intestine

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