Variant report

Variant	rs2570976
Chromosome Location	chr21:46169387-46169388
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46169282..46171670-chr21:46175239..46177493,2	MCF-7	breast:
2	chr21:46166377..46170445-chr21:46171110..46174593,5	K562	blood:
3	chr21:46168183..46170005-chr21:46182866..46185024,2	MCF-7	breast:
4	chr21:46167021..46170333-chr21:46171114..46174578,4	K562	blood:
5	chr21:46168780..46172261-chr21:46182031..46184514,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs180316	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs186847	0.98[EUR][1000 genomes]
rs235296	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs235347	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs235349	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs405117	0.98[EUR][1000 genomes]
rs437719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584779	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs647688	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs690279	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs690621	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46168000-46185800	Weak transcription	Right Atrium	heart
2	chr21:46168400-46169600	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr21:46168400-46173400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:46168600-46169400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr21:46168600-46169400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr21:46168600-46169600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:46168600-46169600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:46168600-46169800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr21:46168600-46170600	Enhancers	Esophagus	oesophagus
10	chr21:46168600-46171800	Flanking Active TSS	NHEK	skin
11	chr21:46168800-46169600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:46168800-46169600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr21:46168800-46170200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:46168800-46171600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:46169000-46169400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr21:46169000-46169400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:46169000-46169600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr21:46169000-46169600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr21:46169200-46169400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr21:46169200-46169400	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr21:46169200-46169600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr21:46169200-46169800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:46169200-46170000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr21:46169200-46172400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr21:46169200-46173000	Enhancers	H1 Cell Line	embryonic stem cell

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