Variant report

Variant	rs67049380
Chromosome Location	chr20:25232130-25232131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25226994..25230316-chr20:25230894..25234790,8	K562	blood:
2	chr20:25217672..25220139-chr20:25231086..25234075,2	K562	blood:
3	chr20:25231045..25233817-chr20:25255982..25257750,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100994	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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]
rs60043588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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]
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:18 , 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	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25228200-25232400	Active TSS	Right Ventricle	heart
2	chr20:25229800-25233000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:25229800-25233400	Weak transcription	Placenta	Placenta
4	chr20:25229800-25235400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr20:25229800-25250000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr20:25230200-25232600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr20:25230200-25232800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr20:25230200-25233200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr20:25230200-25233200	Enhancers	Fetal Brain Male	brain
10	chr20:25230200-25234000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr20:25230200-25235400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr20:25230200-25235800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr20:25230200-25236000	Weak transcription	Psoas Muscle	Psoas
14	chr20:25230200-25237400	Weak transcription	Fetal Thymus	thymus
15	chr20:25230200-25239000	Weak transcription	Primary B cells from cord blood	blood
16	chr20:25230200-25239600	Enhancers	Stomach Mucosa	stomach
17	chr20:25230200-25239800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr20:25230200-25240400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr20:25230200-25240400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr20:25230400-25232400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr20:25230400-25233000	Weak transcription	Fetal Stomach	stomach
22	chr20:25230400-25233200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr20:25230400-25239800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr20:25230400-25239800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr20:25230400-25291600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr20:25230600-25232600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr20:25230600-25233600	Transcr. at gene 5' and 3'	NHEK	skin
28	chr20:25230600-25239800	Weak transcription	Fetal Lung	lung
29	chr20:25230800-25233000	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr20:25230800-25233000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr20:25230800-25233400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:25230800-25233600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:25230800-25233600	Transcr. at gene 5' and 3'	HMEC	breast
34	chr20:25230800-25234000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr20:25230800-25234000	Enhancers	Pancreas	Pancrea
36	chr20:25230800-25235600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr20:25231000-25232200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr20:25231000-25233200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:25231000-25233200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
40	chr20:25231000-25233400	Enhancers	Fetal Brain Female	brain
41	chr20:25231000-25234200	Enhancers	Adipose Nuclei	Adipose
42	chr20:25231000-25235600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr20:25231000-25239400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr20:25231000-25239800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr20:25231000-25240400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr20:25231200-25232400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr20:25231200-25232600	Weak transcription	Fetal Intestine Large	intestine
48	chr20:25231200-25232800	Weak transcription	Fetal Intestine Small	intestine
49	chr20:25231200-25233000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr20:25231200-25233000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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