Variant report

Variant	rs2645430
Chromosome Location	chr8:11659109-11659110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:11657712-11662103	GM12891	blood:	n/a	n/a
2	HEY1	chr8:11659081-11661457	HepG2	liver:	n/a	chr8:11660159-11660174
3	POLR2A	chr8:11659001-11660992	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr8:11658523-11661313	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr8:11659036-11661047	K562	blood:	n/a	n/a
6	POLR2A	chr8:11659105-11661041	HL-60	blood:	n/a	n/a
7	POLR2A	chr8:11658579-11661337	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11645433..11648215-chr8:11658187..11661640,5	MCF-7	breast:
2	chr8:11658330..11660255-chr8:11664033..11666074,2	MCF-7	breast:
3	chr8:11658864..11661745-chr8:11724576..11726431,3	MCF-7	breast:
4	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
5	chr8:11652587..11657894-chr8:11658127..11661459,7	K562	blood:
6	chr8:11625747..11629309-chr8:11658765..11661345,4	K562	blood:
7	chr8:11658127..11661675-chr8:11664375..11667732,3	K562	blood:

No data

Variant related genes	Relation type
FDFT1	TF binding region
ENSG00000164733	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000227203	Chromatin interaction
ENSG00000154328	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1497042	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2252567	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv890364	chr8:11654796-11671041	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Ejection fraction in Tripanosoma cruzi seropositivity	24324551	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2645430	FDFT1	cis	Artery Tibial	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11636800-11659400	Weak transcription	Thymus	Thymus
2	chr8:11641000-11659600	Weak transcription	Right Atrium	heart
3	chr8:11643800-11659400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:11643800-11659600	Weak transcription	Aorta	Aorta
5	chr8:11644400-11659400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:11644600-11659400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:11647400-11659400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:11647600-11659400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:11647600-11659400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr8:11654200-11659400	Weak transcription	Fetal Lung	lung
11	chr8:11654400-11659400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:11654600-11659200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:11654600-11659200	Weak transcription	HSMMtube	muscle
14	chr8:11655000-11659200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:11655000-11659400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:11655000-11659400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:11655000-11659400	Weak transcription	Osteobl	bone
18	chr8:11655400-11659200	Weak transcription	Fetal Brain Male	brain
19	chr8:11655400-11659200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:11655400-11659200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:11655400-11659400	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:11655400-11659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:11655400-11659600	Weak transcription	Psoas Muscle	Psoas
24	chr8:11655600-11659400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:11655800-11659600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:11656000-11659600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:11656000-11659600	Enhancers	Stomach Mucosa	stomach
28	chr8:11656400-11659400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr8:11656600-11659200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:11656800-11659400	Weak transcription	Fetal Kidney	kidney
31	chr8:11656800-11659600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:11657000-11659400	Enhancers	Fetal Intestine Large	intestine
33	chr8:11657000-11659600	Weak transcription	Ovary	ovary
34	chr8:11657200-11659400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr8:11657400-11659400	Enhancers	Primary B cells from peripheral blood	blood
36	chr8:11657400-11659600	Weak transcription	Small Intestine	intestine
37	chr8:11657800-11659400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:11657800-11659400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:11657800-11659400	Enhancers	HMEC	breast
40	chr8:11657800-11659400	Enhancers	NHEK	skin
41	chr8:11657800-11659800	Flanking Active TSS	Dnd41	blood
42	chr8:11658000-11659200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:11658000-11659400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:11658000-11659400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr8:11658000-11659400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:11658000-11659400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:11658000-11659400	Enhancers	Liver	Liver
48	chr8:11658000-11659600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:11658200-11659400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr8:11658200-11659400	Enhancers	Primary B cells from cord blood	blood

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