Variant report

Variant	rs13185633
Chromosome Location	chr5:52024627-52024628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13153693	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13157816	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13158962	0.81[AMR][1000 genomes]
rs13160140	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161242	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162384	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13163634	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165120	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167330	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13168671	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172827	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172960	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175042	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62361161	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv1027410	chr5:52022713-52103360	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52019800-52025000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:52019800-52025200	Enhancers	Fetal Thymus	thymus
3	chr5:52020000-52025200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr5:52020400-52024800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:52021400-52025200	Enhancers	Fetal Lung	lung
6	chr5:52022000-52025400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr5:52022000-52026800	Weak transcription	Fetal Intestine Large	intestine
8	chr5:52022400-52026800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:52022800-52026600	Enhancers	Dnd41	blood
10	chr5:52022800-52026800	Weak transcription	HepG2	liver
11	chr5:52023400-52024800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr5:52023600-52026000	Enhancers	Primary T cells from cord blood	blood
13	chr5:52023800-52024800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr5:52023800-52024800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:52023800-52025000	Enhancers	Adipose Nuclei	Adipose
16	chr5:52023800-52025200	Enhancers	Fetal Intestine Small	intestine
17	chr5:52024200-52027800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr5:52024200-52033600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:52024200-52033800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:52024400-52024800	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:52024400-52026800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:52024400-52026800	Weak transcription	Thymus	Thymus
23	chr5:52024600-52024800	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr5:52024600-52027800	Weak transcription	Small Intestine	intestine

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