Variant report

Variant	rs539523412
Chromosome Location	chr4:56501790-56501791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56500129..56502345-chr4:56579313..56582236,2	K562	blood:
2	chr4:56410839..56413778-chr4:56501227..56505067,4	K562	blood:
3	chr4:56408119..56414507-chr4:56501105..56505595,8	K562	blood:

Variant related genes	Relation type
ENSG00000272969	Chromatin interaction
ENSG00000134852	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv932636	chr4:56438618-56667329	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879021	chr4:56482750-56648713	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3393088	chr4:56484073-56503988	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3395811	chr4:56486113-56514675	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3406771	chr4:56501220-56503968	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56500600-56501800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
2	chr4:56500800-56502600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
3	chr4:56501000-56503000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:56501200-56501800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr4:56501200-56501800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:56501200-56502000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:56501200-56502000	Flanking Active TSS	NHEK	skin
8	chr4:56501200-56503200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr4:56501200-56503200	Enhancers	Spleen	Spleen
10	chr4:56501400-56501800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr4:56501400-56501800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr4:56501400-56501800	Bivalent Enhancer	Primary T cells from cord blood	blood
13	chr4:56501400-56501800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:56501400-56501800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:56501400-56501800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr4:56501400-56501800	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr4:56501400-56501800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr4:56501400-56501800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
19	chr4:56501400-56501800	Flanking Bivalent TSS/Enh	Fetal Heart	heart
20	chr4:56501400-56501800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
21	chr4:56501400-56501800	Bivalent Enhancer	Right Ventricle	heart
22	chr4:56501400-56502000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
23	chr4:56501400-56502000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
24	chr4:56501400-56502000	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr4:56501400-56502000	Bivalent Enhancer	Colon Smooth Muscle	Colon
26	chr4:56501400-56502000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr4:56501400-56502000	Enhancers	Gastric	stomach
28	chr4:56501400-56502000	Enhancers	Right Atrium	heart
29	chr4:56501400-56502200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:56501400-56502200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr4:56501400-56502200	Enhancers	Pancreas	Pancrea
32	chr4:56501400-56502200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
33	chr4:56501400-56502200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr4:56501400-56502400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
35	chr4:56501400-56502600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:56501400-56502800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:56501400-56503000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:56501400-56503000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:56501400-56503000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr4:56501400-56503000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:56501400-56503000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
42	chr4:56501400-56503000	Flanking Bivalent TSS/Enh	Thymus	Thymus
43	chr4:56501400-56503000	Flanking Bivalent TSS/Enh	NH-A	brain
44	chr4:56501400-56503200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:56501400-56503200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr4:56501400-56503400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:56501400-56503400	Bivalent/Poised TSS	Fetal Kidney	kidney
48	chr4:56501400-56503600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr4:56501600-56501800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:56501600-56501800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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