Variant report

Variant	rs9576145
Chromosome Location	chr13:37527667-37527668
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	FOS	chr13:37527394-37527691	MCF10A-Er-Src	breast:	n/a	chr13:37527528-37527536
2	STAT3	chr13:37527079-37527811	MCF10A-Er-Src	breast:	n/a	chr13:37527550-37527573
3	STAT3	chr13:37527393-37527715	MCF10A-Er-Src	breast:	n/a	chr13:37527550-37527573
4	STAT3	chr13:37527392-37527715	MCF10A-Er-Src	breast:	n/a	chr13:37527550-37527573
5	FOS	chr13:37527394-37527693	MCF10A-Er-Src	breast:	n/a	chr13:37527528-37527536

Variant related genes	Relation type
ALG5	TF binding region

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

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

rs_ID	r²[population]
rs1127446	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2078022	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2243710	0.92[ASN][1000 genomes]
rs3818380	0.97[ASN][1000 genomes]
rs4943438	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4943439	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4943440	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7336575	0.92[ASN][1000 genomes]
rs8000946	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9469	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9532003	0.91[ASN][1000 genomes]
rs9547708	0.92[ASN][1000 genomes]
rs9547709	0.90[ASN][1000 genomes]
rs9547711	0.92[ASN][1000 genomes]
rs9547713	0.92[ASN][1000 genomes]
rs9566172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576144	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9576146	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9576147	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9576149	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9576150	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9576151	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9603126	0.89[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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37515400-37533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:37517200-37538400	Weak transcription	Fetal Brain Male	brain
3	chr13:37517600-37529000	Weak transcription	Thymus	Thymus
4	chr13:37519400-37528800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:37519600-37561400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:37520400-37538000	Weak transcription	Colonic Mucosa	Colon
7	chr13:37520600-37560800	Weak transcription	Small Intestine	intestine
8	chr13:37520800-37529000	Weak transcription	Gastric	stomach
9	chr13:37520800-37529400	Weak transcription	HMEC	breast
10	chr13:37520800-37538000	Weak transcription	HepG2	liver
11	chr13:37521000-37536600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr13:37521200-37538200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:37521400-37527800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:37521400-37528600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr13:37521400-37528800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr13:37521400-37529200	Weak transcription	Fetal Kidney	kidney
17	chr13:37521400-37529400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr13:37521400-37531000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:37521400-37531000	Strong transcription	Liver	Liver
20	chr13:37521400-37532200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:37521400-37537800	Weak transcription	NHLF	lung
22	chr13:37521400-37538000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr13:37521400-37538400	Weak transcription	Aorta	Aorta
24	chr13:37521400-37542800	Weak transcription	A549	lung
25	chr13:37521600-37527800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:37521600-37532600	Strong transcription	Primary T cells from cord blood	blood
27	chr13:37521600-37534800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr13:37521600-37535200	Weak transcription	NHEK	skin
29	chr13:37521600-37537800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr13:37521600-37538000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr13:37521600-37538000	Weak transcription	Brain Hippocampus Middle	brain
32	chr13:37521600-37538200	Weak transcription	HSMMtube	muscle
33	chr13:37521800-37539200	Weak transcription	K562	blood
34	chr13:37522000-37531200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr13:37522000-37538000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr13:37522000-37538400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr13:37522400-37531000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr13:37522600-37541000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr13:37522600-37548800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr13:37522800-37528000	Strong transcription	Fetal Muscle Leg	muscle
41	chr13:37522800-37529800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr13:37522800-37547000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:37523000-37528400	Strong transcription	Primary hematopoietic stem cells	blood
44	chr13:37523000-37529600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr13:37523000-37530400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr13:37523000-37530800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr13:37523000-37531000	Strong transcription	Dnd41	blood
48	chr13:37523000-37531400	Weak transcription	Fetal Intestine Small	intestine
49	chr13:37523000-37532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:37523000-37532800	Strong transcription	Fetal Intestine Large	intestine

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