Variant report

Variant	rs72684426
Chromosome Location	chr1:45504806-45504807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45503364..45509535-chr1:45510898..45517046,6	K562	blood:
2	chr1:45185795..45187646-chr1:45502768..45506079,3	K562	blood:
3	chr1:45500321..45502356-chr1:45502649..45504845,2	K562	blood:

Variant related genes	Relation type
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1152028	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11548990	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1226732	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1226750	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1612575	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs173208	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1969084	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1995403	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2228084	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2234480	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs346685	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs346686	0.91[AMR][1000 genomes]
rs346688	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs346689	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs346692	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs346703	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs346704	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs346709	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs346710	0.82[AMR][1000 genomes]
rs346711	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs346718	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs346720	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs346725	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs346726	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs346730	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs409082	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs412055	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs41312020	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4415614	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4660835	1.00[AMR][1000 genomes]
rs55842174	0.81[ASN][1000 genomes]
rs59432881	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6429556	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6664113	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6693885	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72676543	0.81[EUR][1000 genomes]
rs72684406	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72684412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72684416	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72684425	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684447	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72684454	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72684481	0.81[ASN][1000 genomes]
rs72684482	0.81[ASN][1000 genomes]
rs72684485	0.81[ASN][1000 genomes]
rs72684487	0.81[ASN][1000 genomes]
rs72684488	0.81[ASN][1000 genomes]
rs72684499	0.81[ASN][1000 genomes]
rs72686404	0.81[ASN][1000 genomes]
rs7528534	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7543211	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:45481200-45510200	Weak transcription	Lung	lung
3	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
5	chr1:45482000-45523800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:45491800-45516400	Weak transcription	Spleen	Spleen
7	chr1:45492000-45507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:45495000-45506800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:45497400-45525400	Weak transcription	Gastric	stomach
10	chr1:45498000-45525600	Weak transcription	Pancreas	Pancrea
11	chr1:45498200-45506800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:45499200-45516200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:45500400-45505200	Weak transcription	Right Ventricle	heart
14	chr1:45500400-45516600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:45501400-45516600	Weak transcription	Small Intestine	intestine
16	chr1:45501800-45505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:45501800-45508000	Weak transcription	Brain Substantia Nigra	brain
18	chr1:45501800-45516200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:45501800-45521200	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:45501800-45527000	Weak transcription	Fetal Brain Male	brain
21	chr1:45502000-45507600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:45502000-45507600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:45502000-45508000	Weak transcription	Brain Angular Gyrus	brain
24	chr1:45502000-45508000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:45502000-45508000	Weak transcription	Fetal Brain Female	brain
26	chr1:45502000-45508200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:45502000-45508600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:45502000-45510600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:45502000-45512800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:45502000-45523800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr1:45502400-45505200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:45502400-45507800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr1:45502400-45523000	Weak transcription	Aorta	Aorta
34	chr1:45503400-45508200	Weak transcription	Brain Anterior Caudate	brain
35	chr1:45503600-45505200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:45504000-45505200	Genic enhancers	HepG2	liver
37	chr1:45504000-45509800	Strong transcription	Brain Germinal Matrix	brain
38	chr1:45504000-45510400	Weak transcription	Hela-S3	cervix
39	chr1:45504200-45505000	Strong transcription	Fetal Stomach	stomach
40	chr1:45504200-45505800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:45504200-45524200	Weak transcription	Esophagus	oesophagus
42	chr1:45504400-45505000	Flanking Active TSS	K562	blood
43	chr1:45504400-45524000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:45504600-45505200	Strong transcription	Fetal Intestine Small	intestine
45	chr1:45504600-45508400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr1:45504800-45508000	Weak transcription	Ovary	ovary
47	chr1:45504800-45516400	Weak transcription	Fetal Intestine Large	intestine

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