Variant report

Variant	rs8129118
Chromosome Location	chr21:47239859-47239860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47238547..47240191-chr21:47243403..47245083,2	K562	blood:
2	chr21:47237629..47240751-chr21:47286627..47289424,3	MCF-7	breast:
3	chr21:46961701..46963309-chr21:47239137..47240693,2	K562	blood:
4	chr21:47160450..47161017-chr21:47239857..47240766,2	MCF-7	breast:
5	chr21:46973106..46978237-chr21:47237804..47242212,8	MCF-7	breast:
6	chr21:46961245..46963279-chr21:47238506..47240896,2	MCF-7	breast:
7	chr21:47062419..47066562-chr21:47239039..47241901,3	MCF-7	breast:
8	chr21:46976193..46978032-chr21:47237887..47240341,2	K562	blood:
9	chr21:46871841..46874571-chr21:47238507..47240724,2	MCF-7	breast:
10	chr21:46973481..46977035-chr21:47238682..47244036,11	MCF-7	breast:
11	chr21:47230580..47232125-chr21:47237148..47240141,2	K562	blood:
12	chr21:47059881..47063838-chr21:47238507..47241456,3	MCF-7	breast:
13	chr21:46974481..46976891-chr21:47239576..47241145,21	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183570	Chromatin interaction
ENSG00000173638	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11089022	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11089023	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11702443	0.84[ASN][1000 genomes]
rs11702478	0.86[ASN][1000 genomes]
rs11702552	0.84[ASN][1000 genomes]
rs2075885	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2150452	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2839006	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2839007	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2839012	0.89[ASN][1000 genomes]
rs2839015	0.94[ASN][1000 genomes]
rs2839016	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2839027	0.88[ASN][1000 genomes]
rs2839028	0.88[ASN][1000 genomes]
rs2839034	0.84[ASN][1000 genomes]
rs3788219	0.87[ASN][1000 genomes]
rs4819150	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61496907	0.92[ASN][1000 genomes]
rs7276396	0.85[ASN][1000 genomes]
rs7281669	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs741955	0.87[ASN][1000 genomes]
rs743352	0.84[ASN][1000 genomes]
rs8129304	0.83[EUR][1000 genomes]
rs971977	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9979633	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
10	nsv914078	chr21:47218744-47311686	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47217800-47260400	Weak transcription	Right Atrium	heart
2	chr21:47218000-47240200	Weak transcription	Pancreas	Pancrea
3	chr21:47236400-47243800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:47237200-47241200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:47237200-47241400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr21:47237400-47240200	Enhancers	HepG2	liver
7	chr21:47237400-47240400	Weak transcription	Fetal Kidney	kidney
8	chr21:47237400-47240600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr21:47237600-47240800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:47238000-47240400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:47238000-47240600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr21:47238000-47240600	Enhancers	HMEC	breast
13	chr21:47238200-47240000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:47238200-47240600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:47238200-47240800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:47238200-47241000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:47238200-47241000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:47238200-47241000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr21:47238200-47241000	Enhancers	HSMM	muscle
20	chr21:47238400-47241000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:47238400-47241000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr21:47238400-47241600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:47238600-47240800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr21:47238600-47241000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr21:47238600-47241000	Enhancers	Fetal Muscle Leg	muscle
26	chr21:47238600-47241000	Enhancers	GM12878-XiMat	blood
27	chr21:47238800-47241000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr21:47238800-47241000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr21:47238800-47241000	Enhancers	Brain Germinal Matrix	brain
30	chr21:47238800-47241800	Enhancers	Fetal Thymus	thymus
31	chr21:47239000-47240000	Weak transcription	Fetal Intestine Small	intestine
32	chr21:47239000-47240200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr21:47239000-47240200	Weak transcription	Liver	Liver
34	chr21:47239000-47240400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr21:47239000-47240400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr21:47239000-47240600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr21:47239000-47241000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:47239000-47241000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr21:47239000-47241000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr21:47239000-47241000	Enhancers	NH-A	brain
41	chr21:47239000-47241200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr21:47239200-47240200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr21:47239200-47241000	Enhancers	Fetal Brain Female	brain
44	chr21:47239200-47241000	Enhancers	Fetal Stomach	stomach
45	chr21:47239200-47241000	Enhancers	A549	lung
46	chr21:47239400-47240200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr21:47239400-47240400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:47239400-47240400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr21:47239400-47240600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr21:47239400-47240600	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links