Variant report

Variant	rs761725
Chromosome Location	chr20:23402735-23402736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SREBP1	chr20:23401485-23403022	GM12878	blood:	n/a	n/a
2	E2F6	chr20:23402143-23402744	H1-hESC	embryonic stem cell:	n/a	chr20:23402183-23402192
3	MAFK	chr20:23402000-23402842	HepG2	liver:	n/a	n/a
4	MAFK	chr20:23402559-23402837	HepG2	liver:	n/a	n/a
5	MXI1	chr20:23399934-23403006	IMR90	lung:	n/a	n/a
6	RFX5	chr20:23401930-23402913	HepG2	liver:	n/a	n/a
7	POLR2A	chr20:23401734-23402856	Raji	blood:	n/a	n/a
8	EP300	chr20:23401929-23402735	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:23342672..23344892-chr20:23400555..23402881,3	MCF-7	breast:
2	chr20:23337918..23344174-chr20:23400107..23404916,9	MCF-7	breast:
3	chr20:23338809..23345308-chr20:23399768..23403114,12	K562	blood:
4	chr20:23402152..23403758-chr20:23404630..23407146,2	K562	blood:
5	chr20:23340976..23344072-chr20:23400128..23403114,5	K562	blood:
6	chr20:23345633..23349899-chr20:23400854..23404181,4	K562	blood:
7	chr20:23400787..23402892-chr20:23617355..23620191,2	MCF-7	breast:
8	chr20:23345633..23349899-chr20:23400647..23404181,5	K562	blood:

No data

Variant related genes	Relation type
NAPB	TF binding region
ENSG00000125812	Chromatin interaction
ENSG00000232645	Chromatin interaction
ENSG00000101439	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1203982	1.00[AFR][1000 genomes]
rs1210143	1.00[AFR][1000 genomes]
rs4815196	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6083121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62206960	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23400400-23402800	Active TSS	Stomach Smooth Muscle	stomach
2	chr20:23400600-23402800	Active TSS	Thymus	Thymus
3	chr20:23400600-23402800	Active TSS	Osteobl	bone
4	chr20:23400800-23402800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:23400800-23402800	Active TSS	Brain Anterior Caudate	brain
6	chr20:23400800-23402800	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr20:23400800-23402800	Active TSS	Rectal Smooth Muscle	rectum
8	chr20:23400800-23402800	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr20:23401000-23402800	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr20:23402000-23402800	Active TSS	Brain Germinal Matrix	brain
11	chr20:23402200-23402800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr20:23402200-23402800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr20:23402200-23402800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr20:23402200-23402800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr20:23402200-23402800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr20:23402200-23402800	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr20:23402200-23402800	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr20:23402200-23402800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr20:23402200-23402800	Flanking Active TSS	GM12878-XiMat	blood
20	chr20:23402400-23402800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr20:23402400-23402800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr20:23402400-23402800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr20:23402400-23402800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr20:23402400-23402800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr20:23402400-23402800	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr20:23402400-23402800	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr20:23402400-23402800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr20:23402400-23403000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr20:23402400-23403000	Flanking Active TSS	Dnd41	blood
30	chr20:23402400-23406000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr20:23402600-23402800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr20:23402600-23402800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr20:23402600-23402800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr20:23402600-23402800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr20:23402600-23402800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr20:23402600-23402800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr20:23402600-23402800	Enhancers	Primary B cells from peripheral blood	blood
38	chr20:23402600-23402800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr20:23402600-23402800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr20:23402600-23402800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr20:23402600-23402800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr20:23402600-23402800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr20:23402600-23402800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr20:23402600-23402800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr20:23402600-23402800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr20:23402600-23402800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr20:23402600-23402800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr20:23402600-23402800	Enhancers	Liver	Liver
49	chr20:23402600-23402800	Enhancers	Brain Angular Gyrus	brain
50	chr20:23402600-23402800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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