Variant report

Variant	rs575424060
Chromosome Location	chr20:23617546-23617547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr20:23614494-23618787	HepG2	liver:	n/a	n/a
2	POLR2A	chr20:23611829-23619325	HepG2	liver:	n/a	n/a
3	POLR2A	chr20:23615259-23617766	HepG2	liver:	n/a	n/a
4	MXI1	chr20:23617541-23618906	IMR90	lung:	n/a	n/a
5	RCOR1	chr20:23617443-23618713	HepG2	liver:	n/a	n/a
6	POLR2A	chr20:23616779-23617553	HepG2	liver:	n/a	n/a
7	HEY1	chr20:23615393-23617806	HepG2	liver:	n/a	n/a
8	POLR2A	chr20:23616908-23618741	HepG2	liver:	n/a	n/a
9	MBD4	chr20:23616820-23618095	HepG2	liver:	n/a	n/a
10	POLR2A	chr20:23614496-23617566	HepG2	liver:	n/a	n/a
11	POLR2A	chr20:23611753-23618814	HepG2	liver:	n/a	n/a
12	POLR2A	chr20:23617301-23618776	IMR90	lung:	n/a	n/a
13	POLR2A	chr20:23615326-23618779	MCF10A-Er-Src	breast:	n/a	n/a
14	HEY1	chr20:23616708-23618722	HepG2	liver:	n/a	chr20:23617977-23617992 chr20:23618207-23618222 chr20:23617985-23618000

No data

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

No.	Distal block	Cell Line	Cell type
1	chr20:23617167..23619413-chr20:62495612..62498216,2	MCF-7	breast:
2	chr20:23340884..23343229-chr20:23616953..23618725,2	K562	blood:
3	chr20:23400787..23402892-chr20:23617355..23620191,2	MCF-7	breast:
4	chr20:23400310..23402508-chr20:23615661..23618868,3	MCF-7	breast:
5	chr20:23608610..23615599-chr20:23616056..23619619,19	MCF-7	breast:
6	chr20:23615491..23618366-chr20:23625789..23627708,2	MCF-7	breast:
7	chr20:23342009..23344759-chr20:23616093..23619702,3	MCF-7	breast:
8	chr20:23615462..23617688-chr20:23624542..23627030,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270001	TF binding region
ENSG00000101150	Chromatin interaction
ENSG00000125812	Chromatin interaction
ENSG00000125814	Chromatin interaction
ENSG00000270001	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3359195	chr20:23617352-23620750	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23610400-23618200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:23615000-23618000	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
3	chr20:23615800-23617800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr20:23615800-23618000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr20:23616000-23617600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr20:23616000-23617800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr20:23616400-23617600	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr20:23616400-23617800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr20:23616400-23618600	Active TSS	Brain Hippocampus Middle	brain
10	chr20:23616600-23617600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:23616600-23617600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:23616600-23617600	Flanking Active TSS	Pancreas	Pancrea
13	chr20:23616600-23617600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr20:23616600-23617600	Flanking Active TSS	NHEK	skin
15	chr20:23616600-23617800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr20:23616600-23617800	Flanking Active TSS	Fetal Thymus	thymus
17	chr20:23616600-23617800	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr20:23616600-23617800	Flanking Active TSS	HSMM	muscle
19	chr20:23616800-23617600	Enhancers	Primary hematopoietic stem cells	blood
20	chr20:23616800-23617600	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr20:23616800-23617600	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr20:23616800-23617600	Flanking Active TSS	Fetal Brain Female	brain
23	chr20:23616800-23617600	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr20:23616800-23617600	Flanking Active TSS	HMEC	breast
25	chr20:23616800-23617800	Flanking Active TSS	Liver	Liver
26	chr20:23616800-23617800	Flanking Active TSS	A549	lung
27	chr20:23616800-23618000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr20:23616800-23618600	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr20:23617000-23617600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr20:23617000-23617600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr20:23617000-23617600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr20:23617000-23617600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:23617000-23617600	Flanking Active TSS	Colonic Mucosa	Colon
34	chr20:23617000-23617800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr20:23617000-23617800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr20:23617000-23617800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr20:23617000-23617800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr20:23617000-23617800	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr20:23617000-23617800	Flanking Active TSS	Rectal Smooth Muscle	rectum
40	chr20:23617000-23617800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr20:23617000-23617800	Flanking Active TSS	Stomach Mucosa	stomach
42	chr20:23617000-23617800	Flanking Active TSS	HSMMtube	muscle
43	chr20:23617000-23617800	Flanking Active TSS	Osteobl	bone
44	chr20:23617000-23618000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr20:23617000-23618000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr20:23617000-23618000	Flanking Active TSS	GM12878-XiMat	blood
47	chr20:23617000-23618200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr20:23617000-23618400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr20:23617000-23618600	Active TSS	Brain Substantia Nigra	brain
50	chr20:23617200-23617600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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