Variant report

Variant	rs72680107
Chromosome Location	chr1:59409152-59409153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59246467..59248452-chr1:59407731..59410394,2	K562	blood:
2	chr1:59407261..59409763-chr1:59434793..59436501,2	K562	blood:
3	chr1:59405293..59407465-chr1:59409123..59412417,3	K562	blood:
4	chr1:59246952..59251848-chr1:59405165..59409884,6	K562	blood:
5	chr1:59401291..59404305-chr1:59406315..59409384,3	MCF-7	breast:
6	chr1:59279690..59282444-chr1:59408342..59410197,2	K562	blood:

Variant related genes	Relation type
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12071047	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12089816	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12093908	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17096897	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17118423	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17118441	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1886744	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2477743	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764909	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35393496	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55675910	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55834295	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55872264	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56175432	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56219110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56251271	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56349902	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58558886	0.81[EUR][1000 genomes]
rs66555203	0.81[EUR][1000 genomes]
rs72678885	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72678896	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678899	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678900	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678901	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72680113	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921571	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59399200-59409400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:59405400-59410800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:59406600-59409200	Enhancers	Primary B cells from cord blood	blood
4	chr1:59406600-59410600	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:59406600-59410800	Enhancers	Fetal Thymus	thymus
6	chr1:59407000-59410400	Enhancers	Pancreas	Pancrea
7	chr1:59407200-59409200	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:59407200-59410000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:59407400-59409200	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr1:59407400-59410200	Weak transcription	Colonic Mucosa	Colon
11	chr1:59407400-59410600	Enhancers	Stomach Mucosa	stomach
12	chr1:59407800-59410800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr1:59407800-59411000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:59408000-59409200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr1:59408000-59410000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:59408000-59410000	Weak transcription	Spleen	Spleen
17	chr1:59408000-59412000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr1:59408000-59412000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:59408200-59409800	Enhancers	HMEC	breast
20	chr1:59408200-59410000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:59408200-59410000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:59408200-59410000	Enhancers	Fetal Intestine Small	intestine
23	chr1:59408200-59410000	Enhancers	NHEK	skin
24	chr1:59408200-59410800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:59408200-59411000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:59408200-59412200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:59408400-59409400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:59408400-59409800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr1:59408400-59409800	Enhancers	A549	lung
30	chr1:59408400-59411000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:59408400-59411000	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr1:59408600-59411000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr1:59408600-59412000	Enhancers	Primary T cells from cord blood	blood
34	chr1:59408600-59412000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:59408800-59409200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:59408800-59410400	Enhancers	Esophagus	oesophagus
37	chr1:59408800-59410600	Enhancers	Gastric	stomach
38	chr1:59409000-59409200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:59409000-59409200	Enhancers	Small Intestine	intestine
40	chr1:59409000-59409600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr1:59409000-59409800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:59409000-59410000	Weak transcription	Dnd41	blood

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