Variant report

Variant	rs72646711
Chromosome Location	chr1:9593041-9593042
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9589698..9594736-chr1:9596455..9600782,9	K562	blood:
2	chr1:9588042..9590457-chr1:9592247..9594686,2	K562	blood:
3	chr1:9340527..9342561-chr1:9591961..9594805,2	K562	blood:
4	chr1:9588957..9591794-chr1:9592247..9595158,3	K562	blood:

Variant related genes	Relation type
ENSG00000171612	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10864429	0.80[ASN][1000 genomes]
rs12022881	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12023288	0.97[ASN][1000 genomes]
rs12037667	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12040542	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12045459	0.97[ASN][1000 genomes]
rs12045493	0.97[ASN][1000 genomes]
rs12084279	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28719694	0.90[ASN][1000 genomes]
rs4423053	0.89[ASN][1000 genomes]
rs4926482	0.83[ASN][1000 genomes]
rs55655211	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55687246	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55780537	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55986711	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56012411	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56026893	0.85[ASN][1000 genomes]
rs56053581	0.84[ASN][1000 genomes]
rs58478478	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60744607	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6675436	0.83[ASN][1000 genomes]
rs72646706	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72646708	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72646709	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72646712	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72646713	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72646718	0.91[ASN][1000 genomes]
rs7411273	0.85[ASN][1000 genomes]
rs7525099	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7544083	0.84[ASN][1000 genomes]
rs9430181	0.81[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	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9555800-9599400	Weak transcription	Right Atrium	heart
2	chr1:9587200-9598200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:9590400-9593200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:9590600-9593200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:9591600-9598200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:9591600-9599000	Weak transcription	Adipose Nuclei	Adipose
7	chr1:9591600-9599400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:9592000-9598000	Weak transcription	Fetal Heart	heart
9	chr1:9592200-9593600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:9592600-9593400	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:9592600-9593600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:9592600-9593600	Enhancers	Brain Hippocampus Middle	brain
13	chr1:9592600-9594400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:9592800-9593200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:9592800-9593200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:9592800-9593200	Enhancers	Brain Anterior Caudate	brain
17	chr1:9592800-9593400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:9592800-9593400	Enhancers	Liver	Liver
19	chr1:9592800-9593400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:9592800-9593400	Flanking Active TSS	HepG2	liver
21	chr1:9592800-9593600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:9592800-9593600	Enhancers	Brain Substantia Nigra	brain
23	chr1:9592800-9593600	Enhancers	Fetal Intestine Large	intestine
24	chr1:9592800-9593600	Enhancers	Fetal Intestine Small	intestine
25	chr1:9592800-9594600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:9593000-9593400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr1:9593000-9593400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:9593000-9593400	Enhancers	Fetal Lung	lung
29	chr1:9593000-9593400	Enhancers	Rectal Smooth Muscle	rectum
30	chr1:9593000-9593600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:9593000-9593600	Enhancers	Brain Angular Gyrus	brain
32	chr1:9593000-9593600	Enhancers	Fetal Stomach	stomach
33	chr1:9593000-9593800	Enhancers	Cortex derived primary cultured neurospheres	brain

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