Variant report

Variant	rs73125540
Chromosome Location	chr1:224594164-224594165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224592543..224595512-chr1:224595755..224597516,2	K562	blood:
2	chr1:224592158..224594824-chr1:224599014..224600624,2	K562	blood:
3	chr1:224585410..224588248-chr1:224592712..224594281,2	K562	blood:
4	chr1:224593234..224595651-chr1:224620370..224622270,2	K562	blood:
5	chr1:224589162..224592475-chr1:224593427..224596642,4	K562	blood:

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction
ENSG00000266618	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10495218	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10495221	0.86[AMR][1000 genomes]
rs11800357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804538	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11809710	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11810160	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11812007	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1317205	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16848356	0.93[AMR][1000 genomes]
rs16848382	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2211327	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58243680	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59734390	0.86[AMR][1000 genomes]
rs59804672	0.85[AMR][1000 genomes]
rs60063902	0.86[AMR][1000 genomes]
rs60349703	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs60627429	0.80[AFR][1000 genomes]
rs61590597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687735	0.85[AMR][1000 genomes]
rs73123788	0.80[AFR][1000 genomes]
rs73125526	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73125533	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125543	0.93[AMR][1000 genomes];1.00[EUR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224545800-224605000	Weak transcription	Aorta	Aorta
2	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:224571200-224599400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:224572000-224617800	Strong transcription	Fetal Thymus	thymus
5	chr1:224572400-224601000	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:224572400-224617600	Strong transcription	Placenta	Placenta
7	chr1:224572600-224617600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:224572600-224617600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:224572600-224618400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:224572800-224594400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:224573200-224594600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:224573200-224618400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:224573200-224618400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:224573600-224614200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:224573600-224618200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:224573800-224615200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr1:224574000-224595800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:224574000-224599400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:224574000-224601600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr1:224574000-224613600	Strong transcription	Adipose Nuclei	Adipose
21	chr1:224574200-224594400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:224574600-224613600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr1:224575000-224597200	Strong transcription	GM12878-XiMat	blood
24	chr1:224575000-224607600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:224575200-224594800	Strong transcription	Fetal Lung	lung
26	chr1:224575200-224607600	Strong transcription	Fetal Intestine Large	intestine
27	chr1:224575200-224613800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:224575200-224616600	Strong transcription	Dnd41	blood
29	chr1:224575200-224616800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:224576000-224595600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:224576000-224597200	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr1:224576000-224601200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr1:224576200-224614000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr1:224576400-224614600	Strong transcription	HSMM	muscle
35	chr1:224577000-224617400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:224577400-224594200	Strong transcription	Primary T cells from cord blood	blood
37	chr1:224578800-224614000	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:224578800-224617200	Strong transcription	Liver	Liver
39	chr1:224579400-224595000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:224579600-224617400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:224579800-224616000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:224580400-224595600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:224581000-224594200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:224581000-224599600	Strong transcription	HepG2	liver
45	chr1:224581800-224615800	Strong transcription	K562	blood
46	chr1:224583200-224604200	Weak transcription	Fetal Heart	heart
47	chr1:224583400-224594200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:224584200-224599000	Strong transcription	Primary B cells from cord blood	blood
49	chr1:224585000-224597200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:224585000-224599400	Strong transcription	Stomach Smooth Muscle	stomach

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