Variant report

Variant	rs17054804
Chromosome Location	chr13:37587906-37587907
allele	G/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	POLR2A	chr13:37587832-37588738	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:37585892..37587910-chr14:103649231..103652211,2	MCF-7	breast:

Variant related genes	Relation type
SUPT20H	TF binding region
ENSG00000259525	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1199964	1.00[EUR][1000 genomes]
rs1199967	1.00[EUR][1000 genomes]
rs1199970	1.00[EUR][1000 genomes]
rs1211337	1.00[EUR][1000 genomes]
rs17054486	1.00[AMR][1000 genomes]
rs17054718	1.00[AMR][1000 genomes]
rs17054769	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17054795	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17054796	1.00[EUR][1000 genomes]
rs17054810	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17054831	1.00[EUR][1000 genomes]
rs17054863	1.00[EUR][1000 genomes]
rs716519	1.00[AMR][1000 genomes]
rs7320568	1.00[EUR][1000 genomes]
rs7988797	1.00[AMR][1000 genomes]
rs7995985	1.00[EUR][1000 genomes]
rs7999226	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8000672	1.00[EUR][1000 genomes]
rs8001724	1.00[EUR][1000 genomes]
rs9285111	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37575400-37631200	Weak transcription	Stomach Mucosa	stomach
2	chr13:37575600-37592800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:37576000-37592600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:37576200-37606200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:37576200-37623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:37576400-37588600	Weak transcription	Hela-S3	cervix
7	chr13:37576400-37595400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:37576400-37607600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:37576400-37608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:37576400-37618800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:37576400-37623800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:37576600-37600400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:37576600-37608400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:37576600-37623000	Strong transcription	Liver	Liver
15	chr13:37576600-37625800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr13:37576800-37588400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:37576800-37600600	Strong transcription	HUVEC	blood vessel
18	chr13:37576800-37603000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:37576800-37609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:37576800-37621200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr13:37576800-37623200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr13:37577000-37588200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr13:37577000-37588400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:37577000-37591600	Strong transcription	NH-A	brain
25	chr13:37577000-37608400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:37577000-37608600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr13:37577000-37623000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:37577000-37623400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr13:37577000-37624400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr13:37577200-37591600	Strong transcription	HMEC	breast
31	chr13:37577200-37623200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr13:37577200-37625200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr13:37577200-37625800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr13:37577200-37625800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr13:37577400-37588400	Strong transcription	Fetal Thymus	thymus
36	chr13:37577400-37591600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr13:37577400-37591600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr13:37577600-37593400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr13:37577600-37623600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr13:37578200-37615200	Weak transcription	K562	blood
41	chr13:37580000-37608600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:37580200-37595200	Weak transcription	Fetal Intestine Small	intestine
43	chr13:37581200-37596400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr13:37581400-37589600	Weak transcription	Small Intestine	intestine
45	chr13:37581600-37595200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr13:37581800-37602200	Weak transcription	Psoas Muscle	Psoas
47	chr13:37581800-37622800	Strong transcription	Dnd41	blood
48	chr13:37582800-37609600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr13:37583000-37591600	Strong transcription	GM12878-XiMat	blood
50	chr13:37583000-37622800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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