Variant report

Variant	rs561520
Chromosome Location	chr11:62570620-62570621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62570554-62570696	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62565367..62576307-chr11:62617328..62626616,39	K562	blood:
2	chr11:62358215..62361190-chr11:62569453..62571733,2	K562	blood:
3	chr11:62570028..62574835-chr11:62645876..62651719,9	MCF-7	breast:
4	chr11:62570378..62573195-chr11:62652914..62655373,2	K562	blood:
5	chr11:62490888..62495085-chr11:62569701..62574134,8	K562	blood:
6	chr11:62568262..62574296-chr11:62646831..62652869,25	K562	blood:
7	chr11:62356781..62364031-chr11:62570003..62574737,9	K562	blood:

No data

Variant related genes	Relation type
NXF1	TF binding region
ENSG00000255717	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000149016	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2730030	1.00[AMR][1000 genomes]
rs2730033	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2956139	1.00[AMR][1000 genomes]
rs481272	1.00[AMR][1000 genomes]
rs482331	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs489275	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs507101	1.00[AMR][1000 genomes]
rs560006	1.00[AMR][1000 genomes]
rs560603	1.00[AMR][1000 genomes]
rs561385	1.00[AMR][1000 genomes]
rs56226867	1.00[AMR][1000 genomes]
rs564587	1.00[AMR][1000 genomes]
rs577071	1.00[AMR][1000 genomes]
rs595108	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs694678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487819	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487834	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
7	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
8	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62559400-62571200	Genic enhancers	Placenta	Placenta
2	chr11:62559400-62572000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:62559800-62571400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:62560000-62571000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:62560000-62571200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:62560000-62571400	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr11:62560000-62571400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:62560200-62570800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:62560200-62570800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:62560200-62570800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:62560200-62570800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr11:62560200-62570800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:62560200-62570800	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr11:62560200-62570800	Strong transcription	Spleen	Spleen
15	chr11:62560200-62571000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:62560200-62571000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:62560200-62571000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:62560200-62571000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:62560200-62571000	Strong transcription	Adipose Nuclei	Adipose
20	chr11:62560200-62571000	Strong transcription	Liver	Liver
21	chr11:62560200-62571000	Strong transcription	Brain Anterior Caudate	brain
22	chr11:62560200-62571000	Strong transcription	Brain Cingulate Gyrus	brain
23	chr11:62560200-62571000	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr11:62560200-62571000	Strong transcription	Brain Substantia Nigra	brain
25	chr11:62560200-62571000	Strong transcription	Fetal Thymus	thymus
26	chr11:62560200-62571000	Strong transcription	Lung	lung
27	chr11:62560200-62571000	Strong transcription	Thymus	Thymus
28	chr11:62560200-62571000	Strong transcription	HUVEC	blood vessel
29	chr11:62560200-62571000	Strong transcription	NH-A	brain
30	chr11:62560200-62571000	Strong transcription	Osteobl	bone
31	chr11:62560200-62571200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:62560200-62571200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:62560200-62571200	Strong transcription	Brain Germinal Matrix	brain
34	chr11:62560200-62571200	Strong transcription	Left Ventricle	heart
35	chr11:62560200-62571200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:62560200-62571200	Strong transcription	A549	lung
37	chr11:62560200-62571200	Strong transcription	HSMMtube	muscle
38	chr11:62560200-62571200	Strong transcription	NHEK	skin
39	chr11:62560200-62571400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:62560200-62571400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr11:62560400-62570800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:62560400-62570800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:62560400-62570800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:62560400-62570800	Strong transcription	Colon Smooth Muscle	Colon
45	chr11:62560400-62570800	Strong transcription	Hela-S3	cervix
46	chr11:62560400-62571000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:62560400-62571000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr11:62560400-62571000	Strong transcription	Primary T cells from cord blood	blood
49	chr11:62560400-62571000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:62560400-62571000	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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