Variant report

Variant	rs940624
Chromosome Location	chr21:40906884-40906885
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1006601	0.81[JPT][hapmap]
rs11088482	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11088483	0.80[ASN][1000 genomes]
rs11700977	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13046702	0.80[ASN][1000 genomes]
rs1475594	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837072	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2837076	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs2949652	0.80[ASN][1000 genomes]
rs474852	0.80[ASN][1000 genomes]
rs477483	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs479578	0.81[ASN][1000 genomes]
rs480188	0.80[ASN][1000 genomes]
rs480386	0.81[ASN][1000 genomes]
rs482389	0.81[ASN][1000 genomes]
rs485757	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs490214	0.80[ASN][1000 genomes]
rs494815	0.80[ASN][1000 genomes]
rs516184	0.80[ASN][1000 genomes]
rs551558	0.80[ASN][1000 genomes]
rs551699	0.80[ASN][1000 genomes]
rs559642	0.80[ASN][1000 genomes]
rs559696	0.80[ASN][1000 genomes]
rs560554	0.80[ASN][1000 genomes]
rs561340	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs565101	0.80[ASN][1000 genomes]
rs591457	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs592738	0.81[ASN][1000 genomes]
rs594005	0.81[ASN][1000 genomes]
rs608265	0.80[ASN][1000 genomes]
rs622712	0.80[ASN][1000 genomes]
rs623605	0.80[ASN][1000 genomes]
rs623994	0.80[ASN][1000 genomes]
rs624037	0.80[ASN][1000 genomes]
rs624436	0.80[ASN][1000 genomes]
rs624763	0.88[ASN][1000 genomes]
rs624900	0.80[ASN][1000 genomes]
rs625760	0.80[ASN][1000 genomes]
rs626887	0.80[ASN][1000 genomes]
rs636776	0.80[ASN][1000 genomes]
rs639082	0.80[ASN][1000 genomes]
rs639970	0.80[ASN][1000 genomes]
rs641771	0.83[ASN][1000 genomes]
rs643355	0.88[ASN][1000 genomes]
rs651686	0.80[ASN][1000 genomes]
rs651768	0.80[ASN][1000 genomes]
rs652138	0.80[ASN][1000 genomes]
rs653579	0.80[ASN][1000 genomes]
rs657250	0.80[ASN][1000 genomes]
rs666145	0.83[ASN][1000 genomes]
rs669968	0.80[ASN][1000 genomes]
rs685238	0.80[ASN][1000 genomes]
rs685732	0.80[ASN][1000 genomes]
rs686185	0.81[ASN][1000 genomes]
rs686540	0.80[ASN][1000 genomes]
rs686542	0.80[ASN][1000 genomes]
rs687031	0.80[ASN][1000 genomes]
rs687537	0.81[ASN][1000 genomes]
rs687940	0.81[ASN][1000 genomes]
rs689362	0.81[ASN][1000 genomes]
rs7279606	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974702	0.81[ASN][1000 genomes]
rs9981021	0.80[ASN][1000 genomes]
rs9984916	0.87[ASN][1000 genomes]
rs9984946	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv433457	chr21:40900348-40964553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40888200-40907400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr21:40895800-40909600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:40901200-40910200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr21:40901400-40909200	Weak transcription	Stomach Mucosa	stomach
5	chr21:40901800-40907000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:40903200-40907000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr21:40903600-40907600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr21:40904000-40907600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr21:40904200-40909200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:40904200-40909400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr21:40905800-40907400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr21:40905800-40909200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr21:40906000-40907000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:40906400-40907000	Enhancers	Fetal Brain Male	brain
15	chr21:40906800-40907000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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