Variant report

Variant	rs56245000
Chromosome Location	chr5:53219595-53219596
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10471385	1.00[ASN][1000 genomes]
rs11738715	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739045	1.00[ASN][1000 genomes]
rs11743937	1.00[ASN][1000 genomes]
rs11747933	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388112	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504213	1.00[ASN][1000 genomes]
rs17250294	1.00[ASN][1000 genomes]
rs17319376	1.00[ASN][1000 genomes]
rs2035769	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604144	1.00[ASN][1000 genomes]
rs55846014	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372372	1.00[ASN][1000 genomes]
rs62372373	1.00[ASN][1000 genomes]
rs62372374	1.00[ASN][1000 genomes]
rs62372375	1.00[ASN][1000 genomes]
rs62372376	1.00[ASN][1000 genomes]
rs62372391	1.00[ASN][1000 genomes]
rs6898965	1.00[ASN][1000 genomes]
rs72750220	1.00[ASN][1000 genomes]
rs72759303	1.00[ASN][1000 genomes]
rs72759306	1.00[ASN][1000 genomes]
rs72759309	1.00[ASN][1000 genomes]
rs72759312	1.00[ASN][1000 genomes]
rs72759313	1.00[ASN][1000 genomes]
rs72759314	1.00[ASN][1000 genomes]
rs72759388	1.00[ASN][1000 genomes]
rs72759389	1.00[ASN][1000 genomes]
rs72759390	1.00[ASN][1000 genomes]
rs72759397	1.00[ASN][1000 genomes]
rs72759399	1.00[ASN][1000 genomes]
rs72761303	1.00[ASN][1000 genomes]
rs72761304	1.00[ASN][1000 genomes]
rs72761312	1.00[ASN][1000 genomes]
rs72761339	1.00[ASN][1000 genomes]
rs72763106	1.00[ASN][1000 genomes]
rs72763114	1.00[ASN][1000 genomes]
rs72763115	1.00[ASN][1000 genomes]
rs72763116	1.00[ASN][1000 genomes]
rs72763118	1.00[ASN][1000 genomes]
rs72763119	1.00[ASN][1000 genomes]
rs72763127	1.00[ASN][1000 genomes]
rs72763129	1.00[ASN][1000 genomes]
rs72763130	1.00[ASN][1000 genomes]
rs72763131	1.00[ASN][1000 genomes]
rs72763132	1.00[ASN][1000 genomes]
rs72763133	1.00[ASN][1000 genomes]
rs72763135	1.00[ASN][1000 genomes]
rs72763156	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763157	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737026	1.00[ASN][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	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer 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	nsv533778	chr5:53092696-53284566	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv880713	chr5:53198059-53906103	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv830299	chr5:53207020-53386600	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv598175	chr5:53213945-53230760	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv880272	chr5:53213945-53277266	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53173800-53227800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:53187600-53232800	Weak transcription	Primary T cells from cord blood	blood
3	chr5:53200800-53251600	Weak transcription	Primary B cells from cord blood	blood
4	chr5:53206800-53236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:53213600-53219800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:53213600-53220200	Weak transcription	HSMM	muscle
7	chr5:53213800-53219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:53213800-53219800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:53213800-53220200	Weak transcription	Fetal Stomach	stomach
10	chr5:53213800-53225600	Weak transcription	Fetal Intestine Large	intestine
11	chr5:53213800-53235200	Weak transcription	Fetal Intestine Small	intestine
12	chr5:53214000-53238600	Weak transcription	K562	blood
13	chr5:53215600-53220400	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:53215600-53223400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:53216800-53221200	Weak transcription	Left Ventricle	heart
16	chr5:53217000-53230400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:53217200-53220400	Weak transcription	Small Intestine	intestine
18	chr5:53217200-53244800	Weak transcription	Pancreas	Pancrea
19	chr5:53217800-53222800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:53218200-53219800	Weak transcription	Fetal Kidney	kidney
21	chr5:53218600-53219800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:53218800-53223000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:53219000-53220600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:53219000-53220800	Enhancers	Colon Smooth Muscle	Colon
25	chr5:53219400-53220400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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