Variant report

Variant	rs4568937
Chromosome Location	chr10:97502597-97502598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97453039..97455216-chr10:97500286..97502655,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119977	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10509686	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10786239	0.83[ASN][1000 genomes]
rs10882649	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10882650	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10882661	0.91[ASN][1000 genomes]
rs10882671	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188417	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11188437	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11188444	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188455	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188464	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188480	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188484	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11188489	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188501	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11188504	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188506	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188509	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188516	0.83[ASN][1000 genomes]
rs11593044	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11593761	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11597321	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11598475	0.84[EUR][1000 genomes]
rs12354848	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12357173	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12358481	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12359366	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360382	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17461546	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17462179	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17553401	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891535	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891536	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1935814	0.83[ASN][1000 genomes]
rs1935815	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2861151	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2861153	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2861154	0.83[ASN][1000 genomes]
rs3176884	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3176895	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3181122	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3192654	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3763707	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4258314	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4320886	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4402217	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4463786	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4512761	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4917697	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4918951	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4918955	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4918966	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4918970	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4918972	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55801606	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61869573	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61869591	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61871796	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6946	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7072953	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7073010	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7089668	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7091088	0.83[ASN][1000 genomes]
rs7896876	0.83[ASN][1000 genomes]
rs7918339	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526180	chr10:97332195-97511037	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4568937	ENTPD1	cis	multi-tissue	Pritchard
rs4568937	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs4568937	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97500400-97503800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr10:97500800-97502800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:97501000-97503600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr10:97501200-97502800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr10:97501200-97503200	Enhancers	Rectal Smooth Muscle	rectum
6	chr10:97501400-97502600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr10:97501400-97502600	Enhancers	Brain Anterior Caudate	brain
8	chr10:97501400-97502600	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr10:97501400-97503000	Enhancers	Stomach Mucosa	stomach
10	chr10:97501400-97503200	Enhancers	NH-A	brain
11	chr10:97501600-97502600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr10:97501600-97502800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr10:97501600-97503200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:97501800-97502600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:97501800-97502800	Weak transcription	Adipose Nuclei	Adipose
16	chr10:97502000-97503000	Weak transcription	Colon Smooth Muscle	Colon
17	chr10:97502000-97503200	Enhancers	HepG2	liver
18	chr10:97502000-97503600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:97502000-97505600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr10:97502200-97503000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr10:97502200-97503200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:97502200-97505400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr10:97502400-97502600	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr10:97502400-97502600	Flanking Active TSS	Fetal Lung	lung
25	chr10:97502400-97502600	Flanking Active TSS	GM12878-XiMat	blood
26	chr10:97502400-97503000	Enhancers	Liver	Liver
27	chr10:97502400-97503000	Weak transcription	Fetal Stomach	stomach
28	chr10:97502400-97503600	Enhancers	HUVEC	blood vessel

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