Variant report

Variant	rs1372517
Chromosome Location	chr4:90755909-90755910
allele	A/G
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	MAX	chr4:90755600-90755911	NB4	blood:	n/a	chr4:90755730-90755740

Variant related genes	Relation type
ENSG00000247775	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10004413	0.87[EUR][1000 genomes]
rs10005233	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10008964	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10028246	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12331318	0.86[EUR][1000 genomes]
rs1348224	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1372518	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1372519	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1372520	1.00[ASN][1000 genomes]
rs1372521	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1372522	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1442135	0.82[AMR][1000 genomes]
rs1442140	0.81[AMR][1000 genomes]
rs1442144	0.83[ASN][1000 genomes]
rs1442148	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1471483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471484	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1811442	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1811443	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1822217	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1837891	0.83[ASN][1000 genomes]
rs184810	0.81[ASN][1000 genomes]
rs1899389	0.83[AMR][1000 genomes]
rs2197120	0.83[ASN][1000 genomes]
rs2245801	0.91[ASN][1000 genomes]
rs2301134	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2301135	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2572318	0.83[ASN][1000 genomes]
rs2572320	0.83[ASN][1000 genomes]
rs2583962	0.83[ASN][1000 genomes]
rs2583964	0.83[ASN][1000 genomes]
rs2583968	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2583972	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2583975	0.86[ASN][1000 genomes]
rs2583978	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2619341	0.83[ASN][1000 genomes]
rs2619347	0.84[ASN][1000 genomes]
rs2619349	0.86[ASN][1000 genomes]
rs2619355	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2619356	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2619368	0.83[ASN][1000 genomes]
rs2737002	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2737010	0.82[ASN][1000 genomes]
rs2737011	0.86[ASN][1000 genomes]
rs2737021	0.83[ASN][1000 genomes]
rs2737025	0.83[ASN][1000 genomes]
rs2737028	0.83[ASN][1000 genomes]
rs2737030	0.83[ASN][1000 genomes]
rs28403500	0.87[EUR][1000 genomes]
rs28415623	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28507349	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28734152	0.86[EUR][1000 genomes]
rs28777703	0.87[EUR][1000 genomes]
rs3113355	0.84[ASN][1000 genomes]
rs35424815	0.86[EUR][1000 genomes]
rs356162	0.81[ASN][1000 genomes]
rs356186	0.83[ASN][1000 genomes]
rs3756059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756063	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806789	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4293762	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58864428	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6532191	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6532192	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6532193	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6816736	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6817001	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6828271	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6831847	0.81[AMR][1000 genomes]
rs6839608	0.83[AMR][1000 genomes]
rs6843084	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs748849	0.83[ASN][1000 genomes]
rs763443	0.82[AMR][1000 genomes]
rs7671549	0.87[EUR][1000 genomes]
rs7672979	0.86[EUR][1000 genomes]
rs7680557	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7680761	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7681154	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7681440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7687945	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7698219	0.87[EUR][1000 genomes]
rs894280	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs920624	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs990085	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv879536	chr4:90678541-90775212	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90730200-90757200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:90730800-90757000	Weak transcription	Fetal Stomach	stomach
3	chr4:90738400-90756600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:90743400-90756600	Weak transcription	NHEK	skin
5	chr4:90743400-90757400	Weak transcription	Gastric	stomach
6	chr4:90743800-90756600	Weak transcription	Ovary	ovary
7	chr4:90751000-90756600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:90751000-90756600	Weak transcription	Fetal Thymus	thymus
9	chr4:90751000-90757200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:90751200-90756400	Weak transcription	Primary T cells from cord blood	blood
11	chr4:90751200-90756600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:90751400-90756600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:90751400-90756600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:90751400-90757400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:90751600-90756600	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:90751600-90756800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:90751800-90756000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:90752000-90757000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr4:90752200-90756000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:90752600-90756600	Weak transcription	Fetal Lung	lung
21	chr4:90753200-90756000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:90753400-90756600	Genic enhancers	Dnd41	blood
23	chr4:90753600-90756600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:90753800-90757200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:90754600-90756000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:90754600-90756400	Weak transcription	HMEC	breast
27	chr4:90755400-90756400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:90755600-90756000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr4:90755600-90756200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:90755600-90756200	Enhancers	Fetal Brain Male	brain
31	chr4:90755600-90756400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:90755600-90756600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
33	chr4:90755600-90757000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:90755600-90757000	Enhancers	Brain Angular Gyrus	brain
35	chr4:90755600-90759800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:90755800-90756000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:90755800-90756000	Enhancers	Brain Anterior Caudate	brain
38	chr4:90755800-90756000	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr4:90755800-90756400	Enhancers	Brain Substantia Nigra	brain
40	chr4:90755800-90759600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:90755800-90759600	Active TSS	Fetal Brain Female	brain

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