Variant report

Variant	rs8127564
Chromosome Location	chr21:47274882-47274883
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47273743..47277318-chr21:47278622..47280436,3	K562	blood:

Variant related genes	Relation type
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7277666	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7278917	0.83[AFR][1000 genomes]
rs8130202	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 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
12	esv2756755	chr21:47243032-47319768	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	esv2758821	chr21:47243032-47319768	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
15	nsv914080	chr21:47265786-47311686	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
16	nsv914081	chr21:47265786-47320805	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
17	nsv914082	chr21:47265786-47338007	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
18	nsv914083	chr21:47265786-47453954	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47261800-47275200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr21:47264000-47275000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr21:47265800-47282000	Weak transcription	Primary T cells from cord blood	blood
4	chr21:47266800-47300600	Weak transcription	Right Atrium	heart
5	chr21:47272400-47282000	Strong transcription	Thymus	Thymus
6	chr21:47272800-47275400	Genic enhancers	Fetal Thymus	thymus
7	chr21:47273200-47289400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:47273400-47275400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:47273600-47275000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:47273600-47275200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:47273600-47275200	Enhancers	HMEC	breast
12	chr21:47273600-47275400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:47273600-47275800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr21:47273800-47299200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr21:47274400-47275200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr21:47274400-47275200	Enhancers	HSMMtube	muscle
17	chr21:47274400-47275400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:47274400-47275400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr21:47274400-47275400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:47274400-47275400	Enhancers	Fetal Lung	lung
21	chr21:47274400-47275400	Bivalent Enhancer	Fetal Stomach	stomach
22	chr21:47274400-47275400	Enhancers	Spleen	Spleen
23	chr21:47274400-47275600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr21:47274400-47275800	Enhancers	NH-A	brain
25	chr21:47274400-47277200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr21:47274400-47277400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:47274600-47275000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr21:47274600-47275200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr21:47274600-47275400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:47274600-47275400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:47274800-47275000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr21:47274800-47275000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr21:47274800-47275000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:47274800-47275200	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr21:47274800-47275200	Enhancers	NHEK	skin
36	chr21:47274800-47275600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:47274800-47275600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:47274800-47277600	Enhancers	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links