Variant report

Variant	rs8129133
Chromosome Location	chr21:46454237-46454238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46449255..46451183-chr21:46452644..46454339,2	K562	blood:
2	chr21:46445172..46447919-chr21:46452424..46454298,3	K562	blood:
3	chr21:46451994..46454639-chr21:46586058..46587723,2	K562	blood:
4	chr21:46408833..46410367-chr21:46454035..46455709,2	MCF-7	breast:
5	chr21:46439551..46442292-chr21:46453703..46456078,2	K562	blood:
6	chr21:46450570..46454441-chr21:46490790..46494874,4	MCF-7	breast:
7	chr21:46452367..46454538-chr21:46493648..46496547,2	K562	blood:

Variant related genes	Relation type
ENSG00000268856	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12482061	0.81[JPT][hapmap]
rs2329948	0.87[CHB][hapmap]
rs2838756	1.00[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2838759	0.86[CHB][hapmap]
rs6518210	0.92[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7278357	0.86[CHB][hapmap];0.83[CHD][hapmap]
rs8128611	0.86[ASN][1000 genomes]
rs9979806	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv913994	chr21:46376528-46454391	Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv913995	chr21:46376528-46466674	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv913996	chr21:46383941-46459432	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	13 gene(s)	inside rSNPs	diseases
17	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	esv1834255	chr21:46408790-46472929	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	esv1838717	chr21:46408790-46472929	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8129133	PFKL	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46449000-46455800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr21:46449200-46455000	Bivalent Enhancer	Fetal Stomach	stomach
3	chr21:46449200-46455200	Enhancers	Right Atrium	heart
4	chr21:46449800-46455200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr21:46449800-46455200	Enhancers	Left Ventricle	heart
6	chr21:46451400-46454400	Weak transcription	Lung	lung
7	chr21:46451400-46455000	Enhancers	Right Ventricle	heart
8	chr21:46451800-46462200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:46452000-46454400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:46452200-46454400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr21:46452200-46454400	Enhancers	Placenta	Placenta
12	chr21:46452400-46454800	Enhancers	Fetal Thymus	thymus
13	chr21:46452400-46455000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:46452400-46455200	Enhancers	Aorta	Aorta
15	chr21:46452600-46455200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:46453000-46455200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr21:46453000-46455200	Enhancers	Psoas Muscle	Psoas
18	chr21:46453000-46455200	Enhancers	HSMMtube	muscle
19	chr21:46453000-46455600	Enhancers	Fetal Heart	heart
20	chr21:46453200-46454400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:46453200-46454600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr21:46453200-46455000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr21:46453200-46455600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:46453400-46454400	Enhancers	Fetal Brain Male	brain
25	chr21:46453400-46454400	Weak transcription	Spleen	Spleen
26	chr21:46453400-46454600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr21:46453400-46460800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr21:46453600-46454400	Enhancers	Fetal Kidney	kidney
29	chr21:46453600-46454600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:46453600-46454600	Enhancers	NHDF-Ad	bronchial
31	chr21:46453600-46454800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr21:46453600-46455000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr21:46453800-46454600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr21:46453800-46454600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr21:46453800-46454600	Flanking Active TSS	Fetal Lung	lung
36	chr21:46453800-46454600	Bivalent Enhancer	NHEK	skin
37	chr21:46453800-46454800	Bivalent Enhancer	Colonic Mucosa	Colon
38	chr21:46453800-46454800	Enhancers	HMEC	breast
39	chr21:46453800-46455400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:46454000-46454600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr21:46454000-46454600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr21:46454000-46454800	Enhancers	Rectal Smooth Muscle	rectum
43	chr21:46454000-46455200	Enhancers	Esophagus	oesophagus
44	chr21:46454200-46454400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:46454200-46454400	Active TSS	NHLF	lung
46	chr21:46454200-46454800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr21:46454200-46454800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
48	chr21:46454200-46454800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr21:46454200-46454800	Enhancers	Ovary	ovary
50	chr21:46454200-46454800	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links