Variant report

Variant	rs13048458
Chromosome Location	chr21:44583533-44583534
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	chr21:44582155-44583766	HUVEC	blood vessel:	n/a	chr21:44583029-44583037 chr21:44583029-44583036 chr21:44583027-44583038 chr21:44583032-44583039 chr21:44582284-44582298
2	POLR2A	chr21:44583490-44583740	HUVEC	blood vessel:	n/a	n/a
3	GATA2	chr21:44582954-44583928	HUVEC	blood vessel:	n/a	chr21:44583660-44583674 chr21:44583030-44583039
4	RCOR1	chr21:44581934-44583547	Hela-S3	cervix:	n/a	n/a
5	GTF3C2	chr21:44583029-44584063	Hela-S3	cervix:	n/a	n/a
6	MYBL2	chr21:44582585-44583557	HepG2	liver:	n/a	n/a
7	TCF7L2	chr21:44582720-44583778	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44582998..44585767-chr21:45009273..45011214,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228120	TF binding region

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11700709	0.88[ASN][1000 genomes]
rs13053109	0.88[ASN][1000 genomes]
rs36067897	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761382	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv1827985	chr21:44447198-44596778	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv913828	chr21:44471692-44598827	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
6	nsv1060276	chr21:44550394-44628579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
8	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44551800-44593200	Weak transcription	Right Atrium	heart
2	chr21:44578000-44584000	Enhancers	Placenta	Placenta
3	chr21:44579000-44585800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr21:44579200-44583600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:44579800-44586400	Enhancers	Fetal Muscle Leg	muscle
6	chr21:44580200-44584200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr21:44580200-44585600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr21:44580400-44583600	Flanking Active TSS	Hela-S3	cervix
9	chr21:44580400-44584000	Enhancers	Fetal Brain Male	brain
10	chr21:44580400-44584400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr21:44580400-44585200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:44580600-44584800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:44580600-44585000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr21:44580800-44584600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:44581000-44585200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:44581200-44583600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:44581200-44583600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:44581200-44584200	Enhancers	HUVEC	blood vessel
19	chr21:44581800-44583600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr21:44581800-44584600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr21:44582000-44583600	Enhancers	Fetal Intestine Small	intestine
22	chr21:44582200-44583600	Enhancers	Fetal Muscle Trunk	muscle
23	chr21:44582400-44585000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:44582400-44585600	Weak transcription	Colonic Mucosa	Colon
25	chr21:44582400-44593200	Weak transcription	Pancreas	Pancrea
26	chr21:44582400-44593600	Weak transcription	Gastric	stomach
27	chr21:44582800-44583600	Enhancers	NH-A	brain
28	chr21:44582800-44583800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr21:44582800-44586600	Enhancers	HepG2	liver
30	chr21:44583000-44584200	Weak transcription	Brain Germinal Matrix	brain
31	chr21:44583000-44584800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr21:44583000-44585000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr21:44583000-44585200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr21:44583000-44585200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:44583000-44588200	Weak transcription	Lung	lung
36	chr21:44583200-44583600	Enhancers	GM12878-XiMat	blood
37	chr21:44583200-44583600	Enhancers	NHEK	skin
38	chr21:44583200-44584000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr21:44583200-44584400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr21:44583200-44584600	Enhancers	A549	lung
41	chr21:44583200-44584800	Weak transcription	Brain Angular Gyrus	brain
42	chr21:44583200-44584800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr21:44583200-44585000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr21:44583200-44585000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr21:44583200-44585000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr21:44583200-44585000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr21:44583200-44585000	Weak transcription	Brain Hippocampus Middle	brain
48	chr21:44583200-44585000	Weak transcription	Brain Substantia Nigra	brain
49	chr21:44583200-44585000	Weak transcription	Fetal Brain Female	brain
50	chr21:44583200-44585200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links