Variant report

Variant	rs4811456
Chromosome Location	chr20:52329709-52329710
allele	G/T
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	chr17:59482922..59485740-chr20:52327701..52330610,2	MCF-7	breast:
2	chr20:47538326..47539861-chr20:52328073..52331013,2	MCF-7	breast:
3	chr17:56734892..56737825-chr20:52328650..52331819,3	MCF-7	breast:
4	chr11:65190043..65192539-chr20:52329283..52331971,3	MCF-7	breast:
5	chr17:57144515..57146371-chr20:52329082..52330779,2	MCF-7	breast:
6	chr20:52292608..52296429-chr20:52329359..52332532,3	K562	blood:
7	chr20:52309398..52311832-chr20:52327074..52329815,2	K562	blood:
8	chr17:57919913..57922639-chr20:52328479..52331084,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124198	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10854193	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11086435	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11906408	0.88[ASN][1000 genomes]
rs4811452	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4811453	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4811454	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4811455	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56055743	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57351418	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60762133	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8121869	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8125426	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	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
6	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
7	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
8	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
9	esv3348127	chr20:52329646-52330164	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52316200-52330400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:52325000-52330400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:52325200-52334600	Weak transcription	Fetal Muscle Leg	muscle
4	chr20:52326200-52333000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:52327600-52330000	Enhancers	Fetal Thymus	thymus
6	chr20:52327800-52330800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:52327800-52331200	Enhancers	Placenta	Placenta
8	chr20:52328000-52330800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr20:52328000-52331400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr20:52328200-52330400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:52328200-52330600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr20:52328200-52330600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr20:52328200-52330600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr20:52328200-52330800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr20:52328200-52330800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:52328400-52330600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr20:52328800-52330200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr20:52328800-52331800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr20:52329000-52331200	Weak transcription	Primary B cells from cord blood	blood
20	chr20:52329000-52331800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr20:52329200-52331000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr20:52329200-52333000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr20:52329400-52331200	Weak transcription	GM12878-XiMat	blood
24	chr20:52329600-52330000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr20:52329600-52330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr20:52329600-52330800	Enhancers	HepG2	liver
27	chr20:52329600-52332600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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