Variant report

Variant	rs2424581
Chromosome Location	chr20:23621382-23621383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr20:23620543-23621471	HepG2	liver:	n/a	n/a
2	MBD4	chr20:23621213-23622252	HepG2	liver:	n/a	n/a
3	HEY1	chr20:23620740-23622184	HepG2	liver:	n/a	n/a
4	MYBL2	chr20:23620530-23622392	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23615698..23619686-chr20:23620113..23624171,4	MCF-7	breast:
2	chr20:23616967..23620200-chr20:23620235..23623406,7	MCF-7	breast:
3	chr20:23619975..23621824-chr20:23630879..23635181,3	MCF-7	breast:
4	chr20:23617967..23620245-chr20:23621003..23622581,2	K562	blood:

No data

Variant related genes	Relation type
CST3	TF binding region
ENSG00000101439	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2093145	0.82[EUR][1000 genomes]
rs2104006	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2145233	0.89[EUR][1000 genomes]
rs2145234	0.86[EUR][1000 genomes]
rs2180663	0.87[EUR][1000 genomes]
rs2424566	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2424567	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2424574	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2424576	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2424577	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424588	0.86[EUR][1000 genomes]
rs2983603	0.88[EUR][1000 genomes]
rs2983604	0.82[EUR][1000 genomes]
rs2983605	0.86[EUR][1000 genomes]
rs2983636	0.82[EUR][1000 genomes]
rs2983640	0.82[EUR][1000 genomes]
rs2983644	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3004144	0.81[EUR][1000 genomes]
rs62208871	0.88[EUR][1000 genomes]
rs726217	0.82[EUR][1000 genomes]
rs911122	0.89[EUR][1000 genomes]
rs984503	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv964381	chr20:23614805-23621846	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23618600-23621600	Weak transcription	Liver	Liver
2	chr20:23618600-23621600	Weak transcription	Brain Hippocampus Middle	brain
3	chr20:23618600-23621800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr20:23618600-23621800	Weak transcription	Left Ventricle	heart
5	chr20:23618600-23622000	Weak transcription	HUVEC	blood vessel
6	chr20:23618600-23622200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr20:23618600-23622400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr20:23618600-23622400	Weak transcription	NHDF-Ad	bronchial
9	chr20:23618600-23622400	Weak transcription	NHLF	lung
10	chr20:23618600-23622600	Weak transcription	Brain Anterior Caudate	brain
11	chr20:23618600-23622600	Weak transcription	Brain Substantia Nigra	brain
12	chr20:23618600-23622600	Weak transcription	Colon Smooth Muscle	Colon
13	chr20:23618600-23624800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:23618600-23626000	Weak transcription	Gastric	stomach
15	chr20:23618800-23621400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:23618800-23621400	Weak transcription	Primary B cells from cord blood	blood
17	chr20:23618800-23621400	Weak transcription	HSMMtube	muscle
18	chr20:23618800-23621600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr20:23618800-23621600	Weak transcription	Pancreas	Pancrea
20	chr20:23618800-23621600	Weak transcription	HSMM	muscle
21	chr20:23618800-23621800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr20:23618800-23622000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr20:23618800-23622000	Enhancers	Placenta	Placenta
24	chr20:23618800-23622000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr20:23618800-23622200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr20:23618800-23622400	Weak transcription	Fetal Lung	lung
27	chr20:23618800-23622400	Weak transcription	Osteobl	bone
28	chr20:23618800-23622600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr20:23618800-23622600	Weak transcription	Right Atrium	heart
30	chr20:23618800-23623000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr20:23618800-23623000	Weak transcription	NH-A	brain
32	chr20:23618800-23625200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr20:23618800-23626400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr20:23618800-23628600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr20:23619000-23622400	Flanking Active TSS	HepG2	liver
36	chr20:23619200-23621600	Weak transcription	Lung	lung
37	chr20:23619200-23621800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr20:23619200-23621800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr20:23619200-23621800	Weak transcription	Right Ventricle	heart
40	chr20:23619200-23622000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr20:23619200-23622600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr20:23619400-23622000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr20:23619400-23622800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr20:23619400-23623000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr20:23619600-23621400	Weak transcription	Adipose Nuclei	Adipose
46	chr20:23619600-23621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr20:23619600-23622200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr20:23619800-23621600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr20:23620000-23621800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr20:23620000-23623200	Enhancers	Spleen	Spleen

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