Variant report

Variant	rs72752556
Chromosome Location	chr5:52023785-52023786
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:29)

rs_ID	r²[population]
rs10512989	0.92[ASN][1000 genomes]
rs16880141	0.92[ASN][1000 genomes]
rs16880156	0.90[ASN][1000 genomes]
rs16880165	0.92[ASN][1000 genomes]
rs1820165	0.92[ASN][1000 genomes]
rs55673164	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55977259	0.92[ASN][1000 genomes]
rs56926375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60357834	0.86[ASN][1000 genomes]
rs72750760	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72752532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72752550	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752560	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72752561	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72752562	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72752564	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752565	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752567	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752570	0.92[ASN][1000 genomes]
rs72752572	0.92[ASN][1000 genomes]
rs72752574	0.92[ASN][1000 genomes]
rs72752575	0.92[ASN][1000 genomes]
rs72752576	0.92[ASN][1000 genomes]
rs72752577	0.92[ASN][1000 genomes]
rs72754533	0.92[ASN][1000 genomes]
rs72754535	0.92[ASN][1000 genomes]
rs72754540	0.92[ASN][1000 genomes]
rs72754543	0.92[ASN][1000 genomes]
rs72754544	0.92[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52019800-52023800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr5:52019800-52024000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr5:52019800-52025000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:52019800-52025200	Enhancers	Fetal Thymus	thymus
5	chr5:52020000-52023800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr5:52020000-52023800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr5:52020000-52025200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:52020400-52024800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:52020600-52024400	Enhancers	Colon Smooth Muscle	Colon
10	chr5:52020800-52023800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:52021000-52024200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:52021200-52024200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr5:52021400-52024600	Enhancers	Small Intestine	intestine
14	chr5:52021400-52025200	Enhancers	Fetal Lung	lung
15	chr5:52021800-52023800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:52021800-52024200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr5:52022000-52024000	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:52022000-52024200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:52022000-52024200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:52022000-52024400	Enhancers	HMEC	breast
21	chr5:52022000-52025400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr5:52022000-52026800	Weak transcription	Fetal Intestine Large	intestine
23	chr5:52022400-52023800	Weak transcription	Fetal Intestine Small	intestine
24	chr5:52022400-52026800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:52022600-52023800	Enhancers	Fetal Stomach	stomach
26	chr5:52022600-52024400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:52022800-52024200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:52022800-52026600	Enhancers	Dnd41	blood
29	chr5:52022800-52026800	Weak transcription	HepG2	liver
30	chr5:52023000-52023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr5:52023000-52024000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:52023200-52023800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:52023400-52023800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:52023400-52023800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:52023400-52023800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr5:52023400-52023800	Flanking Active TSS	Hela-S3	cervix
37	chr5:52023400-52023800	Enhancers	HSMM	muscle
38	chr5:52023400-52024000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:52023400-52024000	Flanking Active TSS	NHDF-Ad	bronchial
40	chr5:52023400-52024000	Enhancers	NHLF	lung
41	chr5:52023400-52024200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr5:52023400-52024200	Enhancers	Osteobl	bone
43	chr5:52023400-52024800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr5:52023600-52023800	Enhancers	Fetal Kidney	kidney
45	chr5:52023600-52023800	Enhancers	Fetal Muscle Leg	muscle
46	chr5:52023600-52023800	Enhancers	Pancreas	Pancrea
47	chr5:52023600-52023800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr5:52023600-52023800	Enhancers	HUVEC	blood vessel
49	chr5:52023600-52024000	Flanking Active TSS	NHEK	skin
50	chr5:52023600-52024200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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