Variant report

Variant	rs10472358
Chromosome Location	chr5:41921616-41921617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:41917385-41928379	K562	blood:	n/a	n/a
2	STAT3	chr5:41921513-41921651	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr5:41921171-41921624	GM12878	blood:	n/a	n/a
4	ZNF384	chr5:41921323-41921670	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:41866693..41874585-chr5:41920680..41930326,14	K562	blood:
2	chr5:41920030..41922138-chr5:41926101..41928998,2	MCF-7	breast:
3	chr5:41915614..41918247-chr5:41921334..41923121,2	MCF-7	breast:
4	chr5:41864208..41872390-chr5:41920936..41926995,11	K562	blood:
5	chr5:41904013..41906078-chr5:41920302..41923061,3	MCF-7	breast:
6	chr5:41903408..41905883-chr5:41920189..41922331,2	MCF-7	breast:

No data

Variant related genes	Relation type
FBXO4	TF binding region
ENSG00000083720	Chromatin interaction
ENSG00000205765	Chromatin interaction
ENSG00000248668	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10038001	0.84[AFR][1000 genomes]
rs10472360	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10473251	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10473253	0.90[YRI][hapmap]
rs16872115	1.00[AMR][1000 genomes]
rs16872118	1.00[AMR][1000 genomes]
rs16872119	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
2	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
3	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
5	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41905000-41924800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:41905200-41925000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:41905600-41924600	Weak transcription	Small Intestine	intestine
4	chr5:41905800-41922200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:41905800-41923800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:41905800-41924400	Weak transcription	Stomach Mucosa	stomach
7	chr5:41905800-41925000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:41905800-41925000	Weak transcription	Gastric	stomach
9	chr5:41906400-41922200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr5:41906800-41924600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:41907000-41922200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:41907000-41923600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:41907200-41922400	Strong transcription	Liver	Liver
14	chr5:41907800-41922200	Strong transcription	Fetal Thymus	thymus
15	chr5:41907800-41922400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:41908000-41922400	Strong transcription	Adipose Nuclei	Adipose
17	chr5:41908200-41922000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr5:41908200-41922400	Strong transcription	Dnd41	blood
19	chr5:41909200-41924600	Weak transcription	Fetal Heart	heart
20	chr5:41911200-41922000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:41913200-41921800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:41913200-41925000	Weak transcription	Esophagus	oesophagus
23	chr5:41913400-41925000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:41914800-41924800	Weak transcription	Pancreas	Pancrea
25	chr5:41915000-41922400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr5:41915200-41925000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:41915400-41923400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:41915800-41924600	Weak transcription	Brain Angular Gyrus	brain
29	chr5:41916000-41924800	Weak transcription	Right Ventricle	heart
30	chr5:41916000-41925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:41916400-41922400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:41917000-41921800	Strong transcription	K562	blood
33	chr5:41917200-41922400	Strong transcription	Brain Anterior Caudate	brain
34	chr5:41917400-41924800	Weak transcription	Colonic Mucosa	Colon
35	chr5:41918600-41924800	Weak transcription	Fetal Brain Male	brain
36	chr5:41919000-41921800	Weak transcription	HMEC	breast
37	chr5:41919000-41924400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:41919000-41924400	Weak transcription	NHDF-Ad	bronchial
39	chr5:41919000-41924600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:41919000-41924600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:41919000-41924600	Weak transcription	Fetal Intestine Small	intestine
42	chr5:41919000-41924800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr5:41919400-41924400	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:41919600-41924600	Weak transcription	Fetal Stomach	stomach
45	chr5:41919800-41921800	Weak transcription	Osteobl	bone
46	chr5:41919800-41924800	Weak transcription	Aorta	Aorta
47	chr5:41920000-41924600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr5:41920000-41924800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr5:41920000-41924800	Weak transcription	NHLF	lung
50	chr5:41920200-41924600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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