Variant report

Variant	rs60043588
Chromosome Location	chr20:25240089-25240090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25232688..25236951-chr20:25237254..25241133,6	K562	blood:
2	chr20:25233973..25236951-chr20:25237621..25241133,4	K562	blood:
3	chr20:25237526..25240142-chr20:25247989..25249808,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs13038092	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2227894	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3787079	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45587239	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59242979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6050472	0.91[ASN][1000 genomes]
rs6050477	0.91[ASN][1000 genomes]
rs6050513	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6050515	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61272267	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66650433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67049380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67184896	0.90[EUR][1000 genomes]
rs67352161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67864609	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67867367	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67920646	0.97[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7269584	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7272959	0.87[EUR][1000 genomes]
rs7274130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73598373	0.90[EUR][1000 genomes]
rs73612661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73612664	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73612665	0.90[EUR][1000 genomes]
rs8124539	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv833948	chr20:25231726-25410540	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60043588	ZNF337	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25229800-25250000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:25230200-25240400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr20:25230200-25240400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr20:25230400-25291600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr20:25231000-25240400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr20:25231200-25251800	Weak transcription	Hela-S3	cervix
7	chr20:25231200-25252200	Weak transcription	HUVEC	blood vessel
8	chr20:25231400-25240800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr20:25231400-25249800	Weak transcription	Small Intestine	intestine
10	chr20:25233200-25252200	Weak transcription	Fetal Brain Male	brain
11	chr20:25234000-25240200	Weak transcription	HSMM	muscle
12	chr20:25234600-25242400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr20:25235000-25243000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:25235600-25291200	Weak transcription	Fetal Kidney	kidney
15	chr20:25236000-25242200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:25236200-25240600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:25236200-25241600	Genic enhancers	Rectal Mucosa Donor 31	rectum
18	chr20:25236200-25243000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr20:25236200-25251600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr20:25236400-25240200	Weak transcription	HSMMtube	muscle
21	chr20:25236400-25241000	Strong transcription	NHEK	skin
22	chr20:25236600-25253800	Weak transcription	Psoas Muscle	Psoas
23	chr20:25236800-25242000	Strong transcription	A549	lung
24	chr20:25237200-25241200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr20:25237400-25241400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr20:25237600-25242800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr20:25237600-25243000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr20:25237600-25243000	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr20:25237600-25249800	Weak transcription	NHDF-Ad	bronchial
30	chr20:25237600-25262800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr20:25237800-25241600	Strong transcription	HepG2	liver
32	chr20:25238000-25249800	Weak transcription	Liver	Liver
33	chr20:25238000-25250000	Weak transcription	Placenta	Placenta
34	chr20:25238200-25241200	Strong transcription	HMEC	breast
35	chr20:25238200-25242000	Genic enhancers	Fetal Intestine Small	intestine
36	chr20:25238400-25240800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr20:25238600-25240200	Weak transcription	Brain Anterior Caudate	brain
38	chr20:25238600-25240600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr20:25238600-25241400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr20:25238600-25241600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr20:25238600-25242000	Strong transcription	Fetal Muscle Leg	muscle
42	chr20:25238800-25241800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr20:25238800-25242000	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr20:25238800-25242000	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr20:25238800-25242000	Enhancers	Fetal Thymus	thymus
46	chr20:25238800-25242800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr20:25238800-25243000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr20:25238800-25243000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr20:25238800-25243600	Weak transcription	K562	blood
50	chr20:25239000-25240600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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