Variant report

Variant	rs690621
Chromosome Location	chr21:46171844-46171845
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46166377..46170445-chr21:46171110..46174593,5	K562	blood:
2	chr21:46171248..46172890-chr21:46351147..46353098,2	K562	blood:
3	chr21:46171125..46175584-chr21:46182573..46186541,7	MCF-7	breast:
4	chr21:46169476..46172400-chr21:46192060..46193740,2	MCF-7	breast:
5	chr21:45929567..45931775-chr21:46171351..46173770,2	MCF-7	breast:
6	chr21:46171351..46173412-chr21:46175155..46177711,2	K562	blood:
7	chr21:46154840..46157384-chr21:46169701..46172367,2	K562	blood:
8	chr21:46171813..46174336-chr21:46199513..46201823,2	K562	blood:
9	chr21:46167021..46170333-chr21:46171114..46174578,4	K562	blood:
10	chr21:46171419..46173973-chr21:46262013..46264534,2	MCF-7	breast:
11	chr21:46171702..46175044-chr21:46191100..46198657,7	MCF-7	breast:
12	chr21:46168780..46172261-chr21:46182031..46184514,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184787	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000235890	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs180316	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs186847	0.98[EUR][1000 genomes]
rs235296	0.95[EUR][1000 genomes]
rs235347	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs235349	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2570976	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838630	0.85[CHB][hapmap]
rs405117	0.98[EUR][1000 genomes]
rs437719	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs584681	0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs584779	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs647688	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[ASN][1000 genomes]
rs690279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7283084	0.85[CHB][hapmap]
rs7283406	0.85[CHB][hapmap]
rs9637188	0.85[CHB][hapmap]

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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46168000-46185800	Weak transcription	Right Atrium	heart
2	chr21:46168400-46173400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:46169200-46172400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:46169200-46173000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr21:46169400-46173000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:46169600-46172600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:46169600-46172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:46169800-46172600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:46170600-46172000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr21:46170600-46172200	Enhancers	Fetal Muscle Trunk	muscle
11	chr21:46170800-46173600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:46171000-46172400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr21:46171200-46172400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:46171400-46172000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr21:46171400-46172400	Weak transcription	HUVEC	blood vessel
16	chr21:46171400-46183400	Weak transcription	Gastric	stomach
17	chr21:46171600-46172600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:46171800-46172000	Enhancers	NHEK	skin
19	chr21:46171800-46172200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:46171800-46173000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr21:46171800-46173200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr21:46171800-46173400	Enhancers	Fetal Muscle Leg	muscle

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