Variant report

Variant	rs565094052
Chromosome Location	chr4:57800628-57800629
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57773548..57775615-chr4:57799792..57802560,2	K562	blood:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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	esv3425352	chr4:57783591-57820951	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv967748	chr4:57800551-57802516	Enhancers Weak transcription Strong transcription	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57777600-57803200	Weak transcription	NHDF-Ad	bronchial
2	chr4:57777600-57805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:57777600-57806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:57778400-57801000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:57779000-57804600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:57780800-57808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:57781800-57801400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr4:57783200-57801400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:57783800-57802000	Strong transcription	Dnd41	blood
10	chr4:57785400-57800800	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr4:57789800-57803200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:57794800-57802000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:57796800-57803400	Weak transcription	Hela-S3	cervix
16	chr4:57797600-57805400	Weak transcription	Brain Germinal Matrix	brain
17	chr4:57797600-57805400	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:57797600-57807000	Weak transcription	Gastric	stomach
19	chr4:57797600-57811800	Weak transcription	Stomach Mucosa	stomach
20	chr4:57797800-57803600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:57798000-57805800	Weak transcription	Fetal Brain Female	brain
22	chr4:57798000-57806000	Weak transcription	Brain Substantia Nigra	brain
23	chr4:57798000-57806400	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:57798000-57809400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:57798000-57814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:57798200-57802200	Weak transcription	Fetal Intestine Small	intestine
27	chr4:57798200-57802200	Weak transcription	Fetal Stomach	stomach
28	chr4:57798200-57802400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:57798200-57802400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr4:57798200-57802400	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:57798200-57802600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:57798200-57802600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:57798200-57802800	Weak transcription	Thymus	Thymus
34	chr4:57798200-57803000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:57798200-57803000	Weak transcription	Liver	Liver
36	chr4:57798200-57803000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:57798200-57803000	Weak transcription	Spleen	Spleen
38	chr4:57798200-57803200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:57798200-57803200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:57798200-57803200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:57798200-57803200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:57798200-57803200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:57798200-57803200	Weak transcription	HSMMtube	muscle
44	chr4:57798200-57803200	Weak transcription	NHLF	lung
45	chr4:57798200-57803400	Weak transcription	Aorta	Aorta
46	chr4:57798200-57803400	Weak transcription	Colonic Mucosa	Colon
47	chr4:57798200-57803400	Weak transcription	Ovary	ovary
48	chr4:57798200-57803400	Weak transcription	A549	lung
49	chr4:57798200-57803600	Weak transcription	Lung	lung
50	chr4:57798200-57803600	Weak transcription	Rectal Mucosa Donor 29	rectum

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