Variant report

Variant	rs72752550
Chromosome Location	chr5:52020993-52020994
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
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	0.82[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	0.93[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72752556	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752560	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72752561	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72752562	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72752564	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752565	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72752567	0.86[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:4 , 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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52019800-52021000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:52019800-52021000	Enhancers	Dnd41	blood
3	chr5:52019800-52021400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr5:52019800-52021600	Enhancers	Primary T cells from cord blood	blood
5	chr5:52019800-52021600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:52019800-52021600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr5:52019800-52023400	Enhancers	Hela-S3	cervix
8	chr5:52019800-52023800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr5:52019800-52024000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:52019800-52025000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:52019800-52025200	Enhancers	Fetal Thymus	thymus
12	chr5:52020000-52021000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:52020000-52021200	Enhancers	Duodenum Mucosa	Duodenum
14	chr5:52020000-52021400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:52020000-52021800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr5:52020000-52022600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:52020000-52023800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr5:52020000-52023800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr5:52020000-52025200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr5:52020200-52021400	Weak transcription	Small Intestine	intestine
21	chr5:52020200-52021600	Enhancers	HMEC	breast
22	chr5:52020200-52022000	Enhancers	Fetal Intestine Large	intestine
23	chr5:52020200-52022400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr5:52020200-52022800	Enhancers	HepG2	liver
25	chr5:52020400-52021600	Enhancers	Rectal Smooth Muscle	rectum
26	chr5:52020400-52022000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:52020400-52022400	Enhancers	Fetal Intestine Small	intestine
28	chr5:52020400-52022800	Enhancers	Thymus	Thymus
29	chr5:52020400-52024800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:52020600-52021000	Enhancers	NHEK	skin
31	chr5:52020600-52021200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:52020600-52022000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr5:52020600-52022400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:52020600-52022800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr5:52020600-52024400	Enhancers	Colon Smooth Muscle	Colon
36	chr5:52020800-52023400	Enhancers	HUVEC	blood vessel
37	chr5:52020800-52023800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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