Variant report

Variant	rs548882429
Chromosome Location	chr5:37840818-37840819
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	MAX	chr5:37840306-37840860	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:37840209-37841010	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr5:37839792-37840931	IMR90	lung:	n/a	n/a
4	E2F6	chr5:37840250-37840872	H1-hESC	embryonic stem cell:	n/a	chr5:37840472-37840482
5	RAD21	chr5:37839833-37841082	IMR90	lung:	n/a	chr5:37840712-37840722 chr5:37840433-37840446
6	TAF1	chr5:37840444-37840895	SK-N-SH	brain:	n/a	n/a
7	MAX	chr5:37839743-37840858	A549	lung:	n/a	chr5:37840289-37840299
8	SIN3AK20	chr5:37840279-37840882	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr5:37840330-37840854	IMR90	lung:	n/a	n/a
10	MAX	chr5:37840302-37840870	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZNF263	chr5:37839746-37841001	HEK293-T-REx	kidney:	n/a	chr5:37840249-37840258
12	MAZ	chr5:37838894-37841199	IMR90	lung:	n/a	chr5:37839592-37839602 chr5:37840289-37840299 chr5:37839378-37839388 chr5:37839135-37839145
13	HA-E2F1	chr5:37839600-37840974	MCF-7	breast:	n/a	chr5:37839794-37839804 chr5:37840192-37840201 chr5:37839800-37839810 chr5:37839797-37839807 chr5:37839877-37839887 chr5:37840472-37840482
14	E2F6	chr5:37840340-37840824	A549	lung:	n/a	chr5:37840472-37840482
15	POLR2A	chr5:37839876-37841002	ProgFib	skin:	n/a	n/a
16	MAX	chr5:37840342-37841071	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr5:37840680-37840830	HCFaa	heart:	n/a	n/a
18	CTCF	chr5:37840720-37840870	HCPEpiC	choroid plexus:	n/a	n/a
19	TBP	chr5:37840507-37840903	HepG2	liver:	n/a	n/a
20	E2F6	chr5:37840166-37840885	A549	lung:	n/a	chr5:37840192-37840201 chr5:37840472-37840482
21	SETDB1	chr5:37840696-37840991	U2OS	brain:	n/a	n/a
22	POLR2A	chr5:37839943-37841081	U87	brain:	n/a	n/a
23	POLR2A	chr5:37840277-37841019	SK-N-SH	brain:	n/a	n/a
24	KAP1	chr5:37840435-37841503	U2OS	brain:	n/a	n/a
25	POLR2A	chr5:37840529-37840906	HepG2	liver:	n/a	n/a
26	CTCF	chr5:37840780-37840930	NHLF	lung:	n/a	n/a
27	POLR2A	chr5:37840438-37840856	SK-N-SH	brain:	n/a	n/a
28	MAX	chr5:37840196-37841020	SK-N-SH	brain:	n/a	chr5:37840289-37840299
29	MAX	chr5:37840497-37840998	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr5:37840232-37840933	U87	brain:	n/a	n/a
31	CTCF	chr5:37840247-37840914	A549	lung:	n/a	n/a
32	CTCF	chr5:37840700-37840850	BE2_C	brain:	n/a	n/a
33	POLR2A	chr5:37839937-37841084	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37834038..37837439-chr5:37839505..37841588,3	MCF-7	breast:
2	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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37834200-37841000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:37834400-37841400	Bivalent/Poised TSS	Colonic Mucosa	Colon
3	chr5:37836200-37841000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr5:37836200-37841000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:37836400-37841200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr5:37836400-37841600	Active TSS	HSMMtube	muscle
7	chr5:37836600-37841000	Flanking Active TSS	HMEC	breast
8	chr5:37838000-37841200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:37838200-37841400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr5:37838400-37841000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:37838600-37841000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:37838600-37841000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
13	chr5:37839200-37841000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:37839400-37841000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:37839800-37841000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:37839800-37841000	Active TSS	Psoas Muscle	Psoas
17	chr5:37839800-37841000	Active TSS	Right Atrium	heart
18	chr5:37839800-37841000	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr5:37839800-37841200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:37839800-37841200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
21	chr5:37839800-37841400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
22	chr5:37840000-37841000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:37840000-37841200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:37840200-37841000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:37840200-37841000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:37840400-37841000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr5:37840400-37841000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr5:37840400-37841000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr5:37840400-37841000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:37840400-37841000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
31	chr5:37840400-37841200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:37840600-37841000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:37840600-37841000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:37840600-37841000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr5:37840600-37841000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
36	chr5:37840600-37841000	Enhancers	Liver	Liver
37	chr5:37840600-37841000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
38	chr5:37840600-37841000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
39	chr5:37840600-37841000	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
40	chr5:37840600-37841000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr5:37840600-37841000	Flanking Bivalent TSS/Enh	Placenta	Placenta
42	chr5:37840600-37841000	Enhancers	Gastric	stomach
43	chr5:37840600-37841000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
44	chr5:37840600-37841000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
45	chr5:37840600-37841200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:37840600-37841200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:37840600-37841200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr5:37840600-37841200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
49	chr5:37840600-37841200	Bivalent Enhancer	Stomach Mucosa	stomach
50	chr5:37840600-37841200	Flanking Bivalent TSS/Enh	HepG2	liver

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