Variant report

Variant	rs547291769
Chromosome Location	chr4:20252619-20252620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr4:20251918-20253159	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20252458..20255013-chr4:20255238..20258452,3	MCF-7	breast:
2	chr4:20252097..20254985-chr4:20256141..20260392,5	MCF-7	breast:

Variant related genes	Relation type
SLIT2	TF binding region
ENSG00000145147	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	nsv878736	chr4:20233035-20279858	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv878737	chr4:20233035-20282334	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3373550	chr4:20252479-20255027	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20250200-20252800	Weak transcription	HUVEC	blood vessel
2	chr4:20250200-20252800	Weak transcription	NHEK	skin
3	chr4:20250400-20252800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:20250400-20252800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:20250400-20252800	Weak transcription	Hela-S3	cervix
6	chr4:20250600-20252800	Weak transcription	NHLF	lung
7	chr4:20252200-20252800	Enhancers	Brain Angular Gyrus	brain
8	chr4:20252200-20258200	Active TSS	NHDF-Ad	bronchial
9	chr4:20252400-20252800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:20252400-20252800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:20252400-20252800	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:20252400-20252800	Weak transcription	Fetal Stomach	stomach
13	chr4:20252400-20253000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr4:20252400-20253000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:20252400-20253000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
16	chr4:20252400-20255200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:20252400-20256400	Active TSS	Brain Anterior Caudate	brain
18	chr4:20252400-20257000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr4:20252400-20257400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr4:20252600-20252800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
21	chr4:20252600-20252800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:20252600-20252800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:20252600-20252800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:20252600-20252800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:20252600-20252800	Enhancers	Adipose Nuclei	Adipose
26	chr4:20252600-20252800	Enhancers	Liver	Liver
27	chr4:20252600-20252800	Enhancers	Brain Cingulate Gyrus	brain
28	chr4:20252600-20252800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr4:20252600-20252800	Enhancers	Fetal Brain Male	brain
30	chr4:20252600-20252800	Enhancers	Fetal Brain Female	brain
31	chr4:20252600-20252800	Enhancers	Fetal Heart	heart
32	chr4:20252600-20252800	Enhancers	Fetal Kidney	kidney
33	chr4:20252600-20252800	Active TSS	Fetal Lung	lung
34	chr4:20252600-20252800	Enhancers	NH-A	brain
35	chr4:20252600-20252800	Flanking Active TSS	Osteobl	bone
36	chr4:20252600-20253000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:20252600-20253000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:20252600-20253000	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr4:20252600-20253200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr4:20252600-20253200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:20252600-20253200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:20252600-20254200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:20252600-20254400	Active TSS	Right Atrium	heart
44	chr4:20252600-20255000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr4:20252600-20255000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr4:20252600-20255000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr4:20252600-20255600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:20252600-20257000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr4:20252600-20257200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr4:20252600-20257400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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