Variant report

Variant	rs72686444
Chromosome Location	chr1:45765601-45765602
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45763746..45766388-chr1:45768053..45771001,2	MCF-7	breast:
2	chr1:45189136..45191629-chr1:45764504..45767703,3	K562	blood:
3	chr1:45479498..45481402-chr1:45765102..45767476,2	MCF-7	breast:
4	chr1:45765046..45767711-chr1:45767729..45769778,4	K562	blood:
5	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
6	chr1:45739847..45742419-chr1:45763606..45766458,2	K562	blood:
7	chr1:45251452..45252216-chr1:45765452..45766253,2	K562	blood:
8	chr1:45184599..45187885-chr1:45762943..45766358,4	K562	blood:
9	chr1:45281654..45283302-chr1:45765117..45767703,2	K562	blood:
10	chr1:45669107..45671536-chr1:45764944..45767322,2	K562	blood:
11	chr1:45284741..45287398-chr1:45762792..45766811,5	K562	blood:
12	chr1:45479889..45480826-chr1:45765490..45766536,6	MCF-7	breast:
13	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:
14	chr1:45479997..45483032-chr1:45764659..45767473,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000199377	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10157175	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10157807	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11809934	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11810829	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55996819	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56165953	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57477133	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59222807	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60506423	0.88[ASN][1000 genomes]
rs60678516	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72686415	0.88[ASN][1000 genomes]
rs72686418	0.88[ASN][1000 genomes]
rs72686419	0.88[ASN][1000 genomes]
rs72686420	0.88[ASN][1000 genomes]
rs72686421	0.88[ASN][1000 genomes]
rs72686423	0.88[ASN][1000 genomes]
rs72686425	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72686431	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72686433	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72686446	0.85[EUR][1000 genomes];0.93[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	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
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking 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	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45762600-45768400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:45763000-45766400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:45763200-45766400	Enhancers	Brain Germinal Matrix	brain
4	chr1:45763200-45768400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:45763600-45768200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:45763800-45767600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:45763800-45768800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:45764000-45767400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:45764000-45768800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:45764200-45767400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:45764400-45765800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:45764400-45765800	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:45764400-45765800	Weak transcription	K562	blood
14	chr1:45764400-45768400	Weak transcription	Brain Substantia Nigra	brain
15	chr1:45764400-45768600	Weak transcription	Liver	Liver
16	chr1:45764400-45768600	Enhancers	HepG2	liver
17	chr1:45764600-45765800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:45764600-45765800	Weak transcription	Fetal Intestine Large	intestine
19	chr1:45764600-45766200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:45764600-45768600	Weak transcription	Fetal Intestine Small	intestine
21	chr1:45764800-45767400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:45764800-45768200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:45765000-45768200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:45765000-45768400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:45765000-45768600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:45765000-45768600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:45765400-45765800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:45765400-45768600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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