Variant report

Variant	rs584681
Chromosome Location	chr21:46173269-46173270
allele	G/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	chr21:46171917..46177806-chr21:46181342..46188371,13	MCF-7	breast:
2	chr21:46166377..46170445-chr21:46171110..46174593,5	K562	blood:
3	chr21:46171125..46175584-chr21:46182573..46186541,7	MCF-7	breast:
4	chr21:45929567..45931775-chr21:46171351..46173770,2	MCF-7	breast:
5	chr21:46171351..46173412-chr21:46175155..46177711,2	K562	blood:
6	chr21:46173165..46175319-chr21:46175325..46177471,2	MCF-7	breast:
7	chr21:46171813..46174336-chr21:46199513..46201823,2	K562	blood:
8	chr21:46167021..46170333-chr21:46171114..46174578,4	K562	blood:
9	chr21:46171419..46173973-chr21:46262013..46264534,2	MCF-7	breast:
10	chr21:46172712..46173605-chr21:46193104..46193895,3	MCF-7	breast:
11	chr21:46173002..46174537-chr21:46178694..46181185,2	MCF-7	breast:
12	chr21:46171702..46175044-chr21:46191100..46198657,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235890	Chromatin interaction
ENSG00000184787	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs584779	1.00[JPT][hapmap]
rs647688	0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs690279	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs690621	0.85[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs584681	DIP2A	cis	parietal	SCAN
rs584681	PCBP3	cis	parietal	SCAN

Chromatin state (count:21 , 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	chr21:46170800-46173600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:46171400-46183400	Weak transcription	Gastric	stomach
5	chr21:46171800-46173400	Enhancers	Fetal Muscle Leg	muscle
6	chr21:46172000-46173600	Flanking Active TSS	NHEK	skin
7	chr21:46172000-46174000	Enhancers	HMEC	breast
8	chr21:46172200-46173600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:46172400-46173400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr21:46172400-46173400	Bivalent Enhancer	Adipose Nuclei	Adipose
11	chr21:46172400-46173600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr21:46172400-46173600	Enhancers	Spleen	Spleen
13	chr21:46172400-46174800	Enhancers	HUVEC	blood vessel
14	chr21:46172600-46173600	Enhancers	Esophagus	oesophagus
15	chr21:46172800-46173800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:46173000-46173400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
17	chr21:46173000-46173600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
18	chr21:46173000-46175200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr21:46173000-46180200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr21:46173000-46180800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr21:46173200-46173600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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