Variant report

Variant	rs624763
Chromosome Location	chr21:40902905-40902906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40902475..40904077-chr21:40952462..40954060,2	MCF-7	breast:
2	chr21:40901121..40903929-chr21:40907917..40910902,2	K562	blood:

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

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

rs_ID	r²[population]
rs11088482	0.88[ASN][1000 genomes]
rs11088483	0.83[ASN][1000 genomes]
rs11700977	0.88[ASN][1000 genomes]
rs13046702	0.83[ASN][1000 genomes]
rs1475594	0.88[ASN][1000 genomes]
rs2837072	0.88[ASN][1000 genomes]
rs2837076	0.83[ASN][1000 genomes]
rs2949652	0.83[ASN][1000 genomes]
rs474852	0.83[ASN][1000 genomes]
rs477483	0.83[ASN][1000 genomes]
rs479578	0.84[ASN][1000 genomes]
rs480188	0.83[ASN][1000 genomes]
rs480386	0.84[ASN][1000 genomes]
rs482389	0.84[ASN][1000 genomes]
rs485757	0.83[ASN][1000 genomes]
rs490214	0.83[ASN][1000 genomes]
rs494815	0.83[ASN][1000 genomes]
rs516184	0.83[ASN][1000 genomes]
rs551558	0.83[ASN][1000 genomes]
rs551699	0.83[ASN][1000 genomes]
rs559642	0.83[ASN][1000 genomes]
rs559696	0.83[ASN][1000 genomes]
rs560554	0.83[ASN][1000 genomes]
rs561340	0.83[ASN][1000 genomes]
rs565101	0.83[ASN][1000 genomes]
rs591457	0.83[ASN][1000 genomes]
rs592738	0.84[ASN][1000 genomes]
rs592842	0.81[ASN][1000 genomes]
rs594005	0.84[ASN][1000 genomes]
rs608265	0.83[ASN][1000 genomes]
rs622712	0.83[ASN][1000 genomes]
rs623605	0.83[ASN][1000 genomes]
rs623994	0.83[ASN][1000 genomes]
rs624037	0.83[ASN][1000 genomes]
rs624436	0.83[ASN][1000 genomes]
rs624900	0.83[ASN][1000 genomes]
rs625760	0.83[ASN][1000 genomes]
rs626887	0.83[ASN][1000 genomes]
rs636776	0.83[ASN][1000 genomes]
rs639082	0.83[ASN][1000 genomes]
rs639970	0.83[ASN][1000 genomes]
rs641771	0.90[ASN][1000 genomes]
rs643355	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs651686	0.83[ASN][1000 genomes]
rs651740	0.81[ASN][1000 genomes]
rs651768	0.83[ASN][1000 genomes]
rs652138	0.83[ASN][1000 genomes]
rs653579	0.83[ASN][1000 genomes]
rs657250	0.83[ASN][1000 genomes]
rs666145	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs669968	0.83[ASN][1000 genomes]
rs685238	0.83[ASN][1000 genomes]
rs685732	0.83[ASN][1000 genomes]
rs686185	0.84[ASN][1000 genomes]
rs686540	0.83[ASN][1000 genomes]
rs686542	0.83[ASN][1000 genomes]
rs687031	0.83[ASN][1000 genomes]
rs687537	0.84[ASN][1000 genomes]
rs687940	0.84[ASN][1000 genomes]
rs689362	0.84[ASN][1000 genomes]
rs7279606	0.88[ASN][1000 genomes]
rs940624	0.88[ASN][1000 genomes]
rs9974702	0.84[ASN][1000 genomes]
rs9981021	0.83[ASN][1000 genomes]
rs9984946	0.84[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:16 , 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	chr21:40896000-40903000	Weak transcription	Brain Substantia Nigra	brain
4	chr21:40900000-40903000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:40900000-40905600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:40900200-40903000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr21:40900400-40903000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr21:40900600-40903000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr21:40901000-40903400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:40901200-40910200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr21:40901400-40909200	Weak transcription	Stomach Mucosa	stomach
12	chr21:40901800-40907000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:40902600-40904200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:40902800-40904200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:40902800-40904400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:40902800-40905600	Weak transcription	Rectal Mucosa Donor 31	rectum

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