Variant report

Variant	rs7262584
Chromosome Location	chr20:52307753-52307754
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:52306558..52308281-chr20:55848307..55850498,2	MCF-7	breast:
2	chr17:57912841..57917165-chr20:52306237..52309842,4	MCF-7	breast:
3	chr20:52296496..52297267-chr20:52307610..52308510,2	MCF-7	breast:
4	chr20:52307525..52309246-chr20:53054454..53056868,2	MCF-7	breast:
5	chr17:57919004..57920668-chr20:52306707..52309485,2	MCF-7	breast:
6	chr19:33666280..33667890-chr20:52306739..52308440,2	MCF-7	breast:
7	chr20:52228019..52229603-chr20:52306095..52308452,2	K562	blood:
8	chr17:57917673..57919599-chr20:52306135..52308128,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000199004	Chromatin interaction
ENSG00000062716	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58226114	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58310696	0.85[ASN][1000 genomes]
rs6013758	1.00[ASN][1000 genomes]
rs6013760	0.94[ASN][1000 genomes]
rs6013762	0.86[ASN][1000 genomes]
rs6022670	0.94[ASN][1000 genomes]
rs6022671	0.96[ASN][1000 genomes]
rs6022672	0.96[ASN][1000 genomes]
rs6022673	0.96[ASN][1000 genomes]
rs73281900	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8117326	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8119104	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834006	chr20:52182498-52309366	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
4	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
5	nsv912935	chr20:52221906-52337118	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	101 gene(s)	inside rSNPs	diseases
6	nsv912936	chr20:52250876-52344962	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
7	nsv912937	chr20:52251863-52344962	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
8	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
9	nsv518277	chr20:52276452-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv912938	chr20:52276452-52328338	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
11	nsv437185	chr20:52300359-52330053	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv517748	chr20:52304108-52315311	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52303000-52308000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:52303000-52308000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr20:52303000-52308000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr20:52303000-52309200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr20:52303000-52309200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr20:52303000-52309400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr20:52303000-52309400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr20:52303400-52308400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr20:52303400-52309200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr20:52305600-52308000	Weak transcription	Osteobl	bone
11	chr20:52305600-52311200	Weak transcription	Stomach Mucosa	stomach
12	chr20:52305800-52307800	Weak transcription	A549	lung
13	chr20:52305800-52308200	Weak transcription	GM12878-XiMat	blood
14	chr20:52305800-52309200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr20:52305800-52309200	Weak transcription	Fetal Thymus	thymus
16	chr20:52305800-52309200	Weak transcription	Dnd41	blood
17	chr20:52307400-52307800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr20:52307600-52309400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr20:52307600-52309400	Enhancers	HepG2	liver
20	chr20:52307600-52309600	Enhancers	Placenta	Placenta

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