Variant report

Variant	rs567321272
Chromosome Location	chr5:37841044-37841045
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	RAD21	chr5:37839833-37841082	IMR90	lung:	n/a	chr5:37840712-37840722 chr5:37840433-37840446
2	MAZ	chr5:37838894-37841199	IMR90	lung:	n/a	chr5:37839592-37839602 chr5:37840289-37840299 chr5:37839378-37839388 chr5:37839135-37839145
3	MAX	chr5:37840342-37841071	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr5:37839943-37841081	U87	brain:	n/a	n/a
5	KAP1	chr5:37840435-37841503	U2OS	brain:	n/a	n/a
6	POLR2A	chr5:37839937-37841084	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:37837605..37839454-chr5:37840945..37842875,2	K562	blood:
2	chr5:37834038..37837439-chr5:37839505..37841588,3	MCF-7	breast:
3	chr5:37840566..37843558-chr5:37850227..37851845,2	K562	blood:

Variant related genes	Relation type
GDNF	TF binding region
ENSG00000168621	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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	esv3406944	chr5:37838720-37841568	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1848849	chr5:37839618-37841045	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1850800	chr5:37839618-37841045	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1821997	chr5:37839726-37841045	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37834400-37841400	Bivalent/Poised TSS	Colonic Mucosa	Colon
2	chr5:37836400-37841200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr5:37836400-37841600	Active TSS	HSMMtube	muscle
4	chr5:37838000-37841200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:37838200-37841400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
6	chr5:37839800-37841200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:37839800-37841200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
8	chr5:37839800-37841400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
9	chr5:37840000-37841200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:37840400-37841200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:37840600-37841200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:37840600-37841200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:37840600-37841200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:37840600-37841200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr5:37840600-37841200	Bivalent Enhancer	Stomach Mucosa	stomach
16	chr5:37840600-37841200	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr5:37840600-37841200	Flanking Active TSS	HSMM	muscle
18	chr5:37840600-37841400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:37840600-37841400	Bivalent/Poised TSS	Fetal Kidney	kidney
20	chr5:37840600-37841400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
21	chr5:37840600-37841600	Flanking Active TSS	NHEK	skin
22	chr5:37840800-37841200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:37840800-37841200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr5:37840800-37841200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr5:37840800-37841200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:37840800-37841200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:37840800-37841200	Bivalent Enhancer	Fetal Lung	lung
28	chr5:37840800-37841200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr5:37840800-37841400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:37840800-37841400	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr5:37840800-37841400	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr5:37840800-37841400	Flanking Active TSS	NH-A	brain
33	chr5:37840800-37841400	Flanking Active TSS	NHDF-Ad	bronchial
34	chr5:37840800-37841400	Flanking Active TSS	Osteobl	bone
35	chr5:37841000-37841200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:37841000-37841200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
37	chr5:37841000-37841200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:37841000-37841200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
39	chr5:37841000-37841200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
40	chr5:37841000-37841200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
41	chr5:37841000-37841200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
42	chr5:37841000-37841200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:37841000-37841200	Bivalent Enhancer	Brain Substantia Nigra	brain
44	chr5:37841000-37841200	Flanking Active TSS	Psoas Muscle	Psoas
45	chr5:37841000-37841200	Active TSS	Stomach Smooth Muscle	stomach
46	chr5:37841000-37841200	Flanking Active TSS	NHLF	lung
47	chr5:37841000-37841400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
48	chr5:37841000-37841400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:37841000-37841400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
50	chr5:37841000-37841400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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