Variant report

Variant	rs72751862
Chromosome Location	chr5:52904994-52904995
allele	C/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];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12514182	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12515547	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12516733	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12518536	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12519736	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12522533	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12523552	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17305186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1994648	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2045391	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2054970	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2087619	0.84[AFR][1000 genomes]
rs2406914	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72750157	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750158	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72751823	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72751826	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72751865	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];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72753665	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72753667	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72753681	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753683	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753687	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753690	0.83[AMR][1000 genomes];0.89[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:102 , 50 per page) page: 1 2 3

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	chr5:52885800-52906000	Weak transcription	Psoas Muscle	Psoas
4	chr5:52888000-52905000	Weak transcription	Right Ventricle	heart
5	chr5:52888800-52908200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr5:52889800-52920800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:52890000-52912400	Weak transcription	K562	blood
8	chr5:52890200-52907200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:52890200-52920000	Weak transcription	HepG2	liver
10	chr5:52894200-52905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:52897800-52906200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:52899200-52905800	Weak transcription	Fetal Brain Female	brain
13	chr5:52899200-52906000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:52899200-52908400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:52899200-52908400	Weak transcription	HMEC	breast
16	chr5:52899200-52910200	Weak transcription	Brain Germinal Matrix	brain
17	chr5:52899400-52905600	Weak transcription	NHLF	lung
18	chr5:52899400-52908200	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:52899400-52908200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:52899400-52908400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:52899400-52908400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:52899400-52928400	Weak transcription	Fetal Heart	heart
23	chr5:52899800-52905000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:52899800-52905600	Strong transcription	Primary hematopoietic stem cells	blood
25	chr5:52899800-52906400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr5:52900000-52906200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:52900200-52905000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:52900400-52905400	Strong transcription	Primary T cells from cord blood	blood
29	chr5:52900600-52905000	Weak transcription	Hela-S3	cervix
30	chr5:52900800-52905600	Weak transcription	Fetal Kidney	kidney
31	chr5:52900800-52905800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr5:52900800-52908600	Weak transcription	A549	lung
33	chr5:52900800-52909000	Weak transcription	Esophagus	oesophagus
34	chr5:52900800-52910200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr5:52900800-52911800	Weak transcription	Brain Substantia Nigra	brain
36	chr5:52900800-52936600	Weak transcription	NHEK	skin
37	chr5:52901000-52932600	Weak transcription	Aorta	Aorta
38	chr5:52901400-52920600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:52901600-52906200	Weak transcription	Dnd41	blood
40	chr5:52901600-52907200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:52901600-52918000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:52901600-52919600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:52901800-52927000	Weak transcription	Pancreas	Pancrea
44	chr5:52902000-52905000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:52902000-52905000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:52902200-52906600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr5:52902400-52907800	Weak transcription	Fetal Thymus	thymus
48	chr5:52902600-52907000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:52902600-52907400	Weak transcription	Fetal Stomach	stomach
50	chr5:52902600-52909000	Weak transcription	H1 Cell Line	embryonic stem cell

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