Variant report

Variant	rs72751865
Chromosome Location	chr5:52906960-52906961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12513928	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12514182	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12515547	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12516733	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12518536	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12519736	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12522533	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12523552	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17305186	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994648	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2045391	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2054970	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2087619	0.84[AFR][1000 genomes]
rs2406914	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501403	0.84[AFR][1000 genomes]
rs56743978	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58919751	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750157	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750158	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72751823	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72751826	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72751862	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751870	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72753665	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72753667	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72753681	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753683	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753687	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753690	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv880689	chr5:52847995-53002783	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv881348	chr5:52885100-52942083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv881237	chr5:52885100-52944428	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv880426	chr5:52885100-52953048	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv881604	chr5:52885100-53035301	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv880762	chr5:52894276-52944428	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv4828	chr5:52895470-52940279	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52860000-52909000	Weak transcription	Small Intestine	intestine
2	chr5:52876800-52907400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:52888800-52908200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:52889800-52920800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:52890000-52912400	Weak transcription	K562	blood
6	chr5:52890200-52907200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:52890200-52920000	Weak transcription	HepG2	liver
8	chr5:52899200-52908400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:52899200-52908400	Weak transcription	HMEC	breast
10	chr5:52899200-52910200	Weak transcription	Brain Germinal Matrix	brain
11	chr5:52899400-52908200	Weak transcription	Colon Smooth Muscle	Colon
12	chr5:52899400-52908200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:52899400-52908400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr5:52899400-52908400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:52899400-52928400	Weak transcription	Fetal Heart	heart
16	chr5:52900800-52908600	Weak transcription	A549	lung
17	chr5:52900800-52909000	Weak transcription	Esophagus	oesophagus
18	chr5:52900800-52910200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:52900800-52911800	Weak transcription	Brain Substantia Nigra	brain
20	chr5:52900800-52936600	Weak transcription	NHEK	skin
21	chr5:52901000-52932600	Weak transcription	Aorta	Aorta
22	chr5:52901400-52920600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:52901600-52907200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr5:52901600-52918000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:52901600-52919600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:52901800-52927000	Weak transcription	Pancreas	Pancrea
27	chr5:52902400-52907800	Weak transcription	Fetal Thymus	thymus
28	chr5:52902600-52907000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:52902600-52907400	Weak transcription	Fetal Stomach	stomach
30	chr5:52902600-52909000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:52902600-52919600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:52902600-52920800	Weak transcription	Fetal Intestine Small	intestine
33	chr5:52902600-52927000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:52902800-52907200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:52902800-52908400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:52902800-52918800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:52902800-52920800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:52902800-52926400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:52903000-52908400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:52903000-52927000	Weak transcription	Left Ventricle	heart
41	chr5:52903000-52943800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr5:52903200-52907200	Weak transcription	Fetal Intestine Large	intestine
43	chr5:52903200-52909200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:52903200-52910400	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:52903200-52918200	Weak transcription	Liver	Liver
46	chr5:52903200-52918400	Weak transcription	Primary B cells from cord blood	blood
47	chr5:52903200-52918800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr5:52903200-52919800	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:52903200-52920800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:52903200-52926800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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