Variant report

Variant	rs7693300
Chromosome Location	chr4:47496377-47496378
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	TBP	chr4:47495254-47496507	GM12878	blood:	n/a	n/a
2	EBF1	chr4:47495379-47496640	GM12878	blood:	n/a	n/a
3	STAT3	chr4:47495593-47496491	GM12878	blood:	n/a	n/a
4	CHD2	chr4:47495660-47496487	GM12878	blood:	n/a	n/a
5	MXI1	chr4:47495519-47496482	GM12878	blood:	n/a	n/a
6	CHD1	chr4:47495893-47496494	GM12878	blood:	n/a	n/a
7	STAT1	chr4:47495682-47496452	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:47495155-47496443	GM12878	blood:	n/a	n/a
9	EP300	chr4:47495350-47496508	GM12878	blood:	n/a	n/a
10	BHLHE40	chr4:47495490-47496425	GM12878	blood:	n/a	n/a
11	EP300	chr4:47495609-47496593	GM12878	blood:	n/a	n/a
12	EBF1	chr4:47496184-47496436	GM12878	blood:	n/a	n/a
13	IKZF1	chr4:47495793-47496629	GM12878	blood:	n/a	n/a
14	RUNX3	chr4:47495735-47496539	GM12878	blood:	n/a	n/a
15	NFIC	chr4:47495774-47496399	GM12878	blood:	n/a	n/a
16	CUX1	chr4:47495550-47496467	GM12878	blood:	n/a	n/a
17	POLR2A	chr4:47495310-47496514	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47494690..47496480-chr4:47498763..47501727,2	K562	blood:

Variant related genes	Relation type
ENSG00000242431	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11945442	0.98[ASN][1000 genomes]
rs4292304	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73237014	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1008515	chr4:47488431-47906835	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv948568	chr4:47488431-47907524	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1004939	chr4:47488573-47901460	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv537080	chr4:47488573-47901460	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv997471	chr4:47489412-47895223	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv998892	chr4:47493552-47863354	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv537081	chr4:47493552-47863354	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1000337	chr4:47493907-47902019	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7693300	ATP10D	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47488000-47533800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:47488600-47500000	Weak transcription	Fetal Brain Male	brain
3	chr4:47488600-47514400	Weak transcription	Lung	lung
4	chr4:47488600-47524600	Weak transcription	Fetal Intestine Small	intestine
5	chr4:47488800-47500800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:47488800-47502400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:47488800-47502600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:47488800-47559800	Weak transcription	Right Ventricle	heart
9	chr4:47489000-47500600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:47489000-47512000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:47489000-47514400	Weak transcription	Fetal Stomach	stomach
12	chr4:47489000-47514600	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:47489200-47533600	Weak transcription	Esophagus	oesophagus
14	chr4:47489600-47511800	Weak transcription	HMEC	breast
15	chr4:47490000-47501800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:47490000-47502600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:47490000-47511800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:47490000-47512200	Weak transcription	HSMMtube	muscle
19	chr4:47490000-47514800	Weak transcription	Placenta	Placenta
20	chr4:47490200-47514200	Weak transcription	NH-A	brain
21	chr4:47491200-47500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:47492800-47499400	Weak transcription	Liver	Liver
23	chr4:47492800-47514400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:47493000-47500200	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:47493000-47505600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:47493400-47499200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:47493600-47512000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:47494200-47500400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:47494200-47500800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:47494800-47496600	Enhancers	Primary B cells from cord blood	blood
31	chr4:47495000-47496400	Flanking Active TSS	GM12878-XiMat	blood
32	chr4:47495200-47496400	Enhancers	Fetal Kidney	kidney
33	chr4:47495400-47496400	Enhancers	Primary B cells from peripheral blood	blood
34	chr4:47495600-47496400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr4:47495600-47496600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:47495800-47496400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:47496000-47496400	Strong transcription	NHEK	skin
38	chr4:47496000-47496600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:47496000-47500000	Weak transcription	Osteobl	bone
40	chr4:47496000-47500400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr4:47496000-47500600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:47496000-47500800	Weak transcription	Brain Anterior Caudate	brain
43	chr4:47496000-47501200	Weak transcription	Aorta	Aorta
44	chr4:47496000-47502400	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:47496000-47502400	Weak transcription	Small Intestine	intestine
46	chr4:47496000-47502600	Weak transcription	Left Ventricle	heart
47	chr4:47496000-47507200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:47496000-47512200	Weak transcription	Brain Substantia Nigra	brain
49	chr4:47496000-47514400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:47496000-47514600	Weak transcription	Ovary	ovary

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