Variant report

Variant	rs57448612
Chromosome Location	chr5:126257224-126257225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr5:126257002-126257669	PBDE	blood:	n/a	chr5:126257034-126257044 chr5:126257326-126257347
2	POLR2A	chr5:126256427-126257543	K562	blood:	n/a	n/a
3	RCOR1	chr5:126257054-126257658	K562	blood:	n/a	n/a
4	TEAD4	chr5:126257203-126257490	K562	blood:	n/a	n/a
5	ATF1	chr5:126257211-126257520	K562	blood:	n/a	n/a
6	EP300	chr5:126257221-126257489	K562	blood:	n/a	n/a
7	TAL1	chr5:126257168-126257507	K562	blood:	n/a	n/a
8	TEAD4	chr5:126257070-126257597	K562	blood:	n/a	n/a

Variant related genes	Relation type
MARCH3	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11241915	0.89[ASN][1000 genomes]
rs17165220	0.89[ASN][1000 genomes]
rs17165223	0.85[ASN][1000 genomes]
rs17839706	0.89[ASN][1000 genomes]
rs2240529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2240530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55736801	0.89[ASN][1000 genomes]
rs55780389	1.00[ASN][1000 genomes]
rs55807699	0.89[ASN][1000 genomes]
rs55887767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55926617	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55958512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56063325	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs56102558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56298765	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57273792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57394214	0.89[ASN][1000 genomes]
rs57496473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57691405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58170839	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs59022768	0.89[ASN][1000 genomes]
rs59255338	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59584486	0.89[ASN][1000 genomes]
rs59722252	1.00[ASN][1000 genomes]
rs60381307	0.89[ASN][1000 genomes]
rs60409361	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs61137046	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61563447	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61563838	0.89[ASN][1000 genomes]
rs73783474	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783479	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783483	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73783485	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs73783486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73783494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783511	1.00[ASN][1000 genomes]
rs73783517	0.89[ASN][1000 genomes]
rs73783518	0.89[ASN][1000 genomes]
rs73783519	0.89[ASN][1000 genomes]
rs73783522	0.89[ASN][1000 genomes]
rs73786208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786289	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786297	1.00[ASN][1000 genomes]
rs73786300	1.00[ASN][1000 genomes]
rs73786301	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73786302	1.00[ASN][1000 genomes]
rs73787405	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73787409	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	nsv534292	chr5:125993451-126259315	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126244400-126261200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:126246200-126259800	Weak transcription	Fetal Kidney	kidney
3	chr5:126251000-126257800	Weak transcription	Ovary	ovary
4	chr5:126253600-126300400	Weak transcription	Primary B cells from cord blood	blood
5	chr5:126253800-126257400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:126253800-126258000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:126254000-126258000	Enhancers	Brain Germinal Matrix	brain
8	chr5:126254000-126261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:126254000-126277800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:126254000-126278800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:126254200-126257800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:126254800-126257400	Enhancers	Brain Anterior Caudate	brain
13	chr5:126255000-126258000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:126255000-126258000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:126255000-126258000	Enhancers	Fetal Muscle Leg	muscle
16	chr5:126255200-126257800	Enhancers	Fetal Lung	lung
17	chr5:126255400-126257400	Enhancers	Brain Substantia Nigra	brain
18	chr5:126255400-126257800	Enhancers	Brain Hippocampus Middle	brain
19	chr5:126255400-126258200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:126255400-126272400	Weak transcription	HSMM	muscle
21	chr5:126255600-126263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:126255600-126272400	Weak transcription	HSMMtube	muscle
23	chr5:126256000-126257400	Enhancers	K562	blood
24	chr5:126256000-126257600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:126256000-126257600	Enhancers	Brain Cingulate Gyrus	brain
26	chr5:126256000-126258000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:126256000-126258200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:126256200-126257400	Enhancers	Brain Angular Gyrus	brain
29	chr5:126256200-126258000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr5:126256200-126258000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr5:126256200-126258000	Enhancers	Primary hematopoietic stem cells	blood
32	chr5:126256200-126258000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:126256200-126259000	Weak transcription	Primary T cells from cord blood	blood
34	chr5:126256200-126261000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:126256400-126257400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr5:126256400-126259400	Enhancers	Left Ventricle	heart
37	chr5:126256600-126257800	Enhancers	Primary B cells from peripheral blood	blood
38	chr5:126256600-126257800	Flanking Active TSS	Fetal Heart	heart
39	chr5:126256600-126258000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:126256600-126258000	Enhancers	Right Atrium	heart
41	chr5:126256600-126258000	Enhancers	Right Ventricle	heart
42	chr5:126256600-126258000	Enhancers	Stomach Mucosa	stomach
43	chr5:126256800-126257800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr5:126256800-126258000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr5:126256800-126258000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:126256800-126258000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:126257000-126257400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:126257000-126257600	Bivalent Enhancer	Fetal Brain Female	brain
49	chr5:126257000-126258000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:126257000-126258000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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