Variant report

Variant	rs62321017
Chromosome Location	chr4:76585818-76585819
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:76584683-76585985	K562	blood:	n/a	n/a
2	FOXA1	chr4:76585509-76585847	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:76584903..76586465-chr4:76590671..76593356,2	K562	blood:
2	chr4:76584918..76589893-chr4:76647342..76651400,4	K562	blood:
3	chr4:76584377..76586147-chr4:76649620..76651662,2	K562	blood:
4	chr4:76585578..76587106-chr4:76648407..76650643,2	MCF-7	breast:
5	chr4:76518218..76519826-chr4:76585370..76586995,2	K562	blood:

No data

Variant related genes	Relation type
G3BP2	TF binding region
ENSG00000138757	Chromatin interaction
ENSG00000138768	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62318489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62318557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs62321561	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879495	chr4:76493256-76585823	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 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	chr4:76556200-76590000	Weak transcription	Small Intestine	intestine
2	chr4:76565600-76588600	Strong transcription	Fetal Thymus	thymus
3	chr4:76565600-76588800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:76566200-76596600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:76566400-76593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:76567000-76588200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:76567000-76588200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:76567200-76586200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:76567400-76587400	Strong transcription	Placenta	Placenta
10	chr4:76567400-76588400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:76567400-76588400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:76567400-76596600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:76567600-76587000	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr4:76567600-76587200	Strong transcription	Liver	Liver
15	chr4:76567600-76588000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr4:76567600-76588200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:76567600-76588400	Strong transcription	Dnd41	blood
18	chr4:76568000-76587400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:76568000-76588600	Strong transcription	Primary B cells from cord blood	blood
20	chr4:76568600-76588600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr4:76568800-76587800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:76569600-76586800	Strong transcription	Primary hematopoietic stem cells	blood
23	chr4:76569800-76588600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr4:76570000-76587200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:76570000-76588200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:76570600-76587200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:76571400-76586200	Weak transcription	Gastric	stomach
28	chr4:76571800-76590000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:76572000-76590000	Weak transcription	Pancreas	Pancrea
30	chr4:76572000-76592200	Weak transcription	Psoas Muscle	Psoas
31	chr4:76572000-76594400	Weak transcription	Aorta	Aorta
32	chr4:76573800-76596200	Weak transcription	Colonic Mucosa	Colon
33	chr4:76574000-76596400	Weak transcription	Right Ventricle	heart
34	chr4:76576000-76587200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:76576000-76587200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr4:76576000-76588000	Strong transcription	K562	blood
37	chr4:76576600-76587000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:76576800-76586800	Strong transcription	HSMM	muscle
39	chr4:76578000-76586200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:76578000-76586200	Weak transcription	Lung	lung
41	chr4:76578000-76592200	Weak transcription	Spleen	Spleen
42	chr4:76578000-76596400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:76578000-76597000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:76578000-76597000	Weak transcription	Esophagus	oesophagus
45	chr4:76578200-76586000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:76579000-76594000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:76579600-76588600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:76580600-76587000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:76581000-76587800	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:76581000-76594000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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