Variant report

Variant	rs7278814
Chromosome Location	chr21:47265618-47265619
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:47265398-47265621	A549	lung:	n/a	n/a
2	SUZ12	chr21:47265282-47265642	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr21:47265403-47265622	MCF-7	breast:	n/a	chr21:47265578-47265588 chr21:47265551-47265561
4	POLR2A	chr21:47265451-47265618	MCF-7	breast:	n/a	n/a
5	MAX	chr21:47265482-47265679	NB4	blood:	n/a	chr21:47265617-47265627 chr21:47265578-47265588 chr21:47265551-47265561
6	MAX	chr21:47265364-47265665	A549	lung:	n/a	chr21:47265617-47265627 chr21:47265578-47265588 chr21:47265551-47265561
7	NR2C2	chr21:47265247-47265670	GM12878	blood:	n/a	n/a
8	MAX	chr21:47265498-47265620	HepG2	liver:	n/a	chr21:47265578-47265588 chr21:47265551-47265561

No.	Distal block	Cell Line	Cell type
1	chr21:47239959..47242449-chr21:47264107..47266678,2	K562	blood:
2	chr21:47263865..47267326-chr21:47272648..47275392,3	K562	blood:
3	chr21:47264918..47267326-chr21:47272648..47275392,2	K562	blood:
4	chr21:47261675..47263685-chr21:47264908..47267325,2	MCF-7	breast:

Variant related genes	Relation type
PCBP3	TF binding region
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11908989	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11909787	1.00[AMR][1000 genomes]
rs11909949	1.00[AMR][1000 genomes]
rs11910200	1.00[AMR][1000 genomes]
rs11910469	1.00[AMR][1000 genomes]
rs11910564	1.00[AMR][1000 genomes]
rs11910565	1.00[AMR][1000 genomes]
rs11910741	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911016	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911051	1.00[AMR][1000 genomes]
rs11911110	1.00[AMR][1000 genomes]
rs11911278	1.00[AMR][1000 genomes]
rs11911477	1.00[AMR][1000 genomes]
rs11911528	1.00[AMR][1000 genomes]
rs11911547	1.00[AMR][1000 genomes]
rs11911599	1.00[AMR][1000 genomes]
rs11911859	1.00[AMR][1000 genomes]
rs16978629	0.83[AFR][1000 genomes]
rs17004790	1.00[ASN][1000 genomes]
rs17004794	1.00[ASN][1000 genomes]
rs28684590	1.00[AMR][1000 genomes]
rs34087732	1.00[AMR][1000 genomes]
rs4819165	1.00[ASN][1000 genomes]
rs55887015	1.00[ASN][1000 genomes]
rs56326504	1.00[ASN][1000 genomes]
rs57812778	1.00[AMR][1000 genomes]
rs58160661	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58476668	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58587005	1.00[AMR][1000 genomes]
rs59852288	1.00[AMR][1000 genomes]
rs60300060	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61152109	1.00[AMR][1000 genomes]
rs61736689	1.00[AMR][1000 genomes]
rs7275801	1.00[AMR][1000 genomes]
rs7275803	1.00[AMR][1000 genomes]
rs7278500	0.93[YRI][hapmap]
rs7283806	0.96[AFR][1000 genomes]
rs73232742	1.00[ASN][1000 genomes]
rs73380618	1.00[AMR][1000 genomes]
rs73380620	1.00[AMR][1000 genomes]
rs73380624	1.00[AMR][1000 genomes]
rs73380625	1.00[AMR][1000 genomes]
rs73380629	1.00[AMR][1000 genomes]
rs73380634	1.00[AMR][1000 genomes]
rs73380636	1.00[AMR][1000 genomes]
rs73380639	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73380641	1.00[AMR][1000 genomes]
rs73380652	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73380656	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73380658	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73380665	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73380670	1.00[AMR][1000 genomes]
rs73380672	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73380673	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73380682	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73380688	1.00[AMR][1000 genomes]
rs73380693	1.00[AMR][1000 genomes]
rs7410155	1.00[ASN][1000 genomes]
rs8127953	1.00[AMR][1000 genomes]
rs8128525	1.00[AMR][1000 genomes]
rs8129516	1.00[AMR][1000 genomes]
rs8133670	0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9979831	1.00[ASN][1000 genomes]
rs9984190	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
10	nsv914078	chr21:47218744-47311686	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
12	esv2756755	chr21:47243032-47319768	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	esv2758821	chr21:47243032-47319768	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47261200-47266400	Weak transcription	Fetal Kidney	kidney
2	chr21:47261200-47267800	Weak transcription	NH-A	brain
3	chr21:47261200-47269600	Weak transcription	Thymus	Thymus
4	chr21:47261800-47275200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:47262600-47266400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:47263400-47266400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr21:47263800-47274400	Weak transcription	Spleen	Spleen
8	chr21:47264000-47266200	Enhancers	Fetal Thymus	thymus
9	chr21:47264000-47275000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr21:47264200-47266600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:47264400-47266000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr21:47265000-47265800	Enhancers	Primary T cells from cord blood	blood
13	chr21:47265000-47265800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr21:47265000-47266000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr21:47265200-47265800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:47265200-47265800	ZNF genes & repeats	Pancreas	Pancrea
17	chr21:47265200-47265800	Enhancers	HSMMtube	muscle
18	chr21:47265200-47266800	Enhancers	HSMM	muscle
19	chr21:47265200-47268600	Enhancers	Brain Hippocampus Middle	brain
20	chr21:47265400-47265800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr21:47265400-47265800	Enhancers	Gastric	stomach
22	chr21:47265400-47268000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:47265400-47268000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:47265400-47268200	Enhancers	Fetal Muscle Leg	muscle
25	chr21:47265400-47268400	Enhancers	Brain Cingulate Gyrus	brain
26	chr21:47265600-47265800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr21:47265600-47265800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr21:47265600-47266000	Enhancers	Fetal Stomach	stomach
29	chr21:47265600-47266400	Weak transcription	Left Ventricle	heart
30	chr21:47265600-47266600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr21:47265600-47266600	Weak transcription	GM12878-XiMat	blood
32	chr21:47265600-47266800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:47265600-47266800	Enhancers	Fetal Muscle Trunk	muscle
34	chr21:47265600-47267200	Enhancers	Brain Angular Gyrus	brain
35	chr21:47265600-47268000	Enhancers	Rectal Smooth Muscle	rectum
36	chr21:47265600-47268600	Enhancers	Brain Substantia Nigra	brain
37	chr21:47265600-47269600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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