Variant report

Variant	rs7278500
Chromosome Location	chr21:47265421-47265422
allele	C/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	MAX	chr21:47265201-47265589	H1-hESC	embryonic stem cell:	n/a	chr21:47265578-47265588 chr21:47265551-47265561
3	SUZ12	chr21:47265282-47265642	H1-hESC	embryonic stem cell:	n/a	n/a
4	MYC	chr21:47265403-47265622	MCF-7	breast:	n/a	chr21:47265578-47265588 chr21:47265551-47265561
5	MAX	chr21:47265364-47265665	A549	lung:	n/a	chr21:47265617-47265627 chr21:47265578-47265588 chr21:47265551-47265561
6	POLR2A	chr21:47265320-47265520	Gliobla	brain:	n/a	n/a
7	NR2C2	chr21:47265247-47265670	GM12878	blood:	n/a	n/a

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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11908989	0.91[YRI][hapmap]
rs11911016	0.91[YRI][hapmap]
rs7275491	1.00[AFR][1000 genomes]
rs7278186	1.00[AFR][1000 genomes]
rs7278814	0.93[YRI][hapmap]
rs7283492	1.00[AFR][1000 genomes]
rs8128411	1.00[AFR][1000 genomes]
rs8130422	1.00[AFR][1000 genomes]
rs8133670	0.82[YRI][hapmap]
rs8134280	1.00[AFR][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:36 , 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	chr21:47265000-47265600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr21:47265000-47265600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr21:47265000-47265800	Enhancers	Primary T cells from cord blood	blood
15	chr21:47265000-47265800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr21:47265000-47266000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr21:47265200-47265600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr21:47265200-47265600	ZNF genes & repeats	Fetal Brain Male	brain
19	chr21:47265200-47265800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:47265200-47265800	ZNF genes & repeats	Pancreas	Pancrea
21	chr21:47265200-47265800	Enhancers	HSMMtube	muscle
22	chr21:47265200-47266800	Enhancers	HSMM	muscle
23	chr21:47265200-47268600	Enhancers	Brain Hippocampus Middle	brain
24	chr21:47265400-47265600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:47265400-47265600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr21:47265400-47265600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr21:47265400-47265600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:47265400-47265600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr21:47265400-47265600	Enhancers	Left Ventricle	heart
30	chr21:47265400-47265600	Enhancers	GM12878-XiMat	blood
31	chr21:47265400-47265800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:47265400-47265800	Enhancers	Gastric	stomach
33	chr21:47265400-47268000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:47265400-47268000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:47265400-47268200	Enhancers	Fetal Muscle Leg	muscle
36	chr21:47265400-47268400	Enhancers	Brain Cingulate Gyrus	brain

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