Variant report

Variant	rs56292477
Chromosome Location	chr4:20707061-20707062
allele	G/T
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	CTCF	chr4:20706960-20707110	HBMEC	blood vessel:	n/a	n/a
2	CTCF	chr4:20706980-20707130	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20705332..20707768-chr4:20710083..20712545,3	K562	blood:

Variant related genes	Relation type
PACRGL	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56033903	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73240208	0.87[AMR][1000 genomes]
rs73240219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013077	chr4:20599841-20732558	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20702400-20722600	Weak transcription	Spleen	Spleen
2	chr4:20702600-20717200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:20702800-20707400	Weak transcription	Aorta	Aorta
4	chr4:20703000-20708600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:20703000-20717200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:20703000-20717400	Weak transcription	Fetal Heart	heart
7	chr4:20703000-20721800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:20703000-20722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:20703000-20741400	Weak transcription	Stomach Mucosa	stomach
10	chr4:20703200-20714400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:20703200-20715000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr4:20703200-20722800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:20703200-20741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:20703400-20722800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:20703400-20722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:20703400-20723600	Weak transcription	Pancreas	Pancrea
17	chr4:20703400-20724000	Weak transcription	A549	lung
18	chr4:20703600-20715000	Weak transcription	Ovary	ovary
19	chr4:20703600-20716200	Weak transcription	Hela-S3	cervix
20	chr4:20703600-20717200	Weak transcription	Brain Germinal Matrix	brain
21	chr4:20703800-20714800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:20704800-20707200	Strong transcription	K562	blood
23	chr4:20705000-20718200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:20705400-20718200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:20705600-20707600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr4:20705600-20707800	Strong transcription	Dnd41	blood
27	chr4:20705600-20709400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:20705600-20709400	Strong transcription	HUVEC	blood vessel
29	chr4:20705600-20709800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:20705600-20715400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:20706000-20707400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:20706000-20707600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:20706000-20707600	Strong transcription	Fetal Brain Female	brain
34	chr4:20706000-20707600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr4:20706000-20707600	Strong transcription	HSMMtube	muscle
36	chr4:20706000-20707800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr4:20706000-20711200	Strong transcription	Primary T cells from cord blood	blood
38	chr4:20706000-20711200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:20706000-20711200	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:20706000-20712000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:20706000-20712200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:20706000-20715200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:20706000-20715400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:20706000-20717400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:20706200-20707200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr4:20706200-20707200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr4:20706200-20707200	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr4:20706200-20707200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:20706200-20707200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:20706200-20707200	Strong transcription	Brain Cingulate Gyrus	brain

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