Variant report

Variant	rs373395889
Chromosome Location	chr20:23617610-23617611
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 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	HEY1	chr20:23615393-23617806	HepG2	liver:	n/a	n/a
7	POLR2A	chr20:23616908-23618741	HepG2	liver:	n/a	n/a
8	MBD4	chr20:23616820-23618095	HepG2	liver:	n/a	n/a
9	POLR2A	chr20:23611753-23618814	HepG2	liver:	n/a	n/a
10	MYC	chr20:23617565-23618856	A549	lung:	n/a	n/a
11	POLR2A	chr20:23617301-23618776	IMR90	lung:	n/a	n/a
12	POLR2A	chr20:23615326-23618779	MCF10A-Er-Src	breast:	n/a	n/a
13	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
ENSG00000125812	Chromatin interaction
ENSG00000101150	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:113 , 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	chr20:23616000-23617800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr20:23616400-23617800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr20:23616400-23618600	Active TSS	Brain Hippocampus Middle	brain
8	chr20:23616600-23617800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:23616600-23617800	Flanking Active TSS	Fetal Thymus	thymus
10	chr20:23616600-23617800	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr20:23616600-23617800	Flanking Active TSS	HSMM	muscle
12	chr20:23616800-23617800	Flanking Active TSS	Liver	Liver
13	chr20:23616800-23617800	Flanking Active TSS	A549	lung
14	chr20:23616800-23618000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr20:23616800-23618600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr20:23617000-23617800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr20:23617000-23617800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr20:23617000-23617800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr20:23617000-23617800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr20:23617000-23617800	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr20:23617000-23617800	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr20:23617000-23617800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr20:23617000-23617800	Flanking Active TSS	Stomach Mucosa	stomach
24	chr20:23617000-23617800	Flanking Active TSS	HSMMtube	muscle
25	chr20:23617000-23617800	Flanking Active TSS	Osteobl	bone
26	chr20:23617000-23618000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:23617000-23618000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr20:23617000-23618000	Flanking Active TSS	GM12878-XiMat	blood
29	chr20:23617000-23618200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr20:23617000-23618400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr20:23617000-23618600	Active TSS	Brain Substantia Nigra	brain
32	chr20:23617200-23617800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:23617200-23617800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr20:23617200-23617800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr20:23617200-23617800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr20:23617200-23617800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr20:23617200-23617800	Active TSS	Thymus	Thymus
38	chr20:23617200-23617800	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr20:23617200-23617800	Flanking Active TSS	HUVEC	blood vessel
40	chr20:23617200-23617800	Flanking Active TSS	NH-A	brain
41	chr20:23617200-23618000	Flanking Active TSS	Fetal Brain Male	brain
42	chr20:23617200-23618000	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr20:23617200-23618800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr20:23617200-23618800	Active TSS	Brain Cingulate Gyrus	brain
45	chr20:23617400-23617800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
46	chr20:23617400-23617800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
47	chr20:23617400-23617800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
48	chr20:23617400-23617800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr20:23617400-23617800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr20:23617400-23617800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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