Variant report

Variant	rs647688
Chromosome Location	chr21:46171571-46171572
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 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	chr21:46169282..46171670-chr21:46175239..46177493,2	MCF-7	breast:
6	chr21:45929567..45931775-chr21:46171351..46173770,2	MCF-7	breast:
7	chr21:46171351..46173412-chr21:46175155..46177711,2	K562	blood:
8	chr21:46154840..46157384-chr21:46169701..46172367,2	K562	blood:
9	chr21:46167021..46170333-chr21:46171114..46174578,4	K562	blood:
10	chr21:46171419..46173973-chr21:46262013..46264534,2	MCF-7	breast:
11	chr21:46168780..46172261-chr21:46182031..46184514,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160255	Chromatin interaction
ENSG00000235890	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs180316	0.94[ASN][1000 genomes]
rs235347	0.94[ASN][1000 genomes]
rs235349	0.96[ASN][1000 genomes]
rs2570976	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2838630	0.85[CHB][hapmap]
rs437719	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs584681	0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs584779	0.82[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs690279	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.98[ASN][1000 genomes]
rs690621	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]
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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs647688	ECM2	trans	parietal	SCAN

Chromatin state (count:27 , 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	chr21:46168600-46171800	Flanking Active TSS	NHEK	skin
4	chr21:46168800-46171600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:46169200-46172400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr21:46169200-46173000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr21:46169400-46173000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:46169600-46171800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr21:46169600-46172600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr21:46169600-46172600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:46169800-46171600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr21:46169800-46172600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr21:46170200-46171600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr21:46170200-46171600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr21:46170400-46171600	Bivalent Enhancer	Fetal Stomach	stomach
16	chr21:46170600-46171600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr21:46170600-46171600	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr21:46170600-46172000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr21:46170600-46172200	Enhancers	Fetal Muscle Trunk	muscle
20	chr21:46170800-46171800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr21:46170800-46173600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:46171000-46171800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr21:46171000-46172400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr21:46171200-46172400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:46171400-46172000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:46171400-46172400	Weak transcription	HUVEC	blood vessel
27	chr21:46171400-46183400	Weak transcription	Gastric	stomach

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