Variant report

Variant	rs139417981
Chromosome Location	chr5:37838917-37838918
allele	A/C
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	chr5:37838109-37839800	H1-hESC	embryonic stem cell:	n/a	chr5:37839592-37839602 chr5:37839378-37839388 chr5:37839135-37839145
2	CTCF	chr5:37838780-37838930	AG09319	gingival:	n/a	n/a
3	E2F6	chr5:37837818-37839512	H1-hESC	embryonic stem cell:	n/a	chr5:37838340-37838347 chr5:37838955-37838964 chr5:37838113-37838121 chr5:37838400-37838407 chr5:37838739-37838747 chr5:37838340-37838347 chr5:37838739-37838747 chr5:37838112-37838122 chr5:37838663-37838672 chr5:37838113-37838120 chr5:37838340-37838347 chr5:37838113-37838121 chr5:37838112-37838123
4	SUZ12	chr5:37838338-37840103	H1-hESC	embryonic stem cell:	n/a	n/a
5	RCOR1	chr5:37836628-37839609	IMR90	lung:	n/a	n/a
6	MAZ	chr5:37838894-37841199	IMR90	lung:	n/a	chr5:37839592-37839602 chr5:37840289-37840299 chr5:37839378-37839388 chr5:37839135-37839145
7	MYC	chr5:37838878-37838961	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr5:37838245-37839489	H1-hESC	embryonic stem cell:	n/a	chr5:37839378-37839388 chr5:37839135-37839145
9	SETDB1	chr5:37838677-37839204	U2OS	brain:	n/a	n/a
10	E2F6	chr5:37836391-37840195	H1-hESC	embryonic stem cell:	n/a	chr5:37838340-37838347 chr5:37838955-37838964 chr5:37838113-37838121 chr5:37838400-37838407 chr5:37839794-37839804 chr5:37838739-37838747 chr5:37836831-37836840 chr5:37839800-37839810 chr5:37839797-37839807 chr5:37839877-37839887 chr5:37837060-37837072 chr5:37838340-37838347 chr5:37838739-37838747 chr5:37838112-37838122 chr5:37838663-37838672 chr5:37838113-37838120 chr5:37838340-37838347 chr5:37838113-37838121 chr5:37838112-37838123
11	MAX	chr5:37838146-37839528	H1-hESC	embryonic stem cell:	n/a	chr5:37839378-37839388 chr5:37839135-37839145
12	ZNF143	chr5:37838734-37838982	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37838871-37838921	HRE	kidney:	n/a
2	chr5:37838871-37838921	T-47D	breast:	n/a
3	chr5:37838871-37838921	SKMC	muscle:	n/a
4	chr5:37838871-37838921	AG04449	skin:	fetal
5	chr5:37838871-37838921	GM06990	blood:	n/a
6	chr5:37838871-37838921	ovcar-3	ovarian:	n/a
7	chr5:37838871-37838921	RPTEC	kidney:	n/a
8	chr5:37838871-37838921	HNPCEpiC	eye:	n/a
9	chr5:37838871-37838921	PANC-1	pancreas:	n/a
10	chr5:37838871-37838921	GM12892	blood:	n/a
11	chr5:37838871-37838921	GM12891	blood:	n/a
12	chr5:37838871-37838921	ProgFib	skin:	n/a
13	chr5:37838871-37838921	NHDF-neo	bronchial:	n/a
14	chr5:37838871-37838921	Jurkat	blood:	n/a
15	chr5:37838871-37838921	HAEpiC	amniotic membrane:	n/a
16	chr5:37838871-37838921	NB4	blood:	n/a
17	chr5:37838871-37838921	ECC-1	luminal epithelium:	n/a
18	chr5:37838871-37838921	HCPEpiC	choroid plexus:	n/a
19	chr5:37838871-37838921	HCM	heart:	n/a
20	chr5:37838871-37838921	BE2_C	brain:	n/a
21	chr5:37838871-37838921	PFSK-1	brain:	n/a
22	chr5:37838871-37838921	IMR90	lung:	fetal
23	chr5:37838871-37838921	NT2-D1	testis:	n/a
24	chr5:37838871-37838921	CMK	blood:	n/a
25	chr5:37838871-37838921	SAEC	small airway:	n/a
26	chr5:37838871-37838921	HCT-116	colon:	n/a
27	chr5:37838871-37838921	AG09319	gingival:	n/a
28	chr5:37838871-37838921	HL-60	blood:	n/a
29	chr5:37838871-37838921	AG10803	skin:	n/a
30	chr5:37838871-37838921	HepG2	liver:	n/a
31	chr5:37838871-37838921	BJ	skin:	n/a
32	chr5:37838871-37838921	Hela-S3	cervix:	n/a
33	chr5:37838871-37838921	PrEC	prostate:	n/a
34	chr5:37838871-37838921	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:37838871-37838921	NH-A	brain:	n/a
36	chr5:37838871-37838921	GM12878	blood:	n/a
37	chr5:37838871-37838921	HUVEC	blood vessel:	n/a
38	chr5:37838871-37838921	AG09309	skin:	n/a
39	chr5:37838871-37838921	HRCEpiC	kidney:	n/a
40	chr5:37838871-37838921	SK-N-SH	brain:	n/a
41	chr5:37838871-37838921	U87	brain:	n/a
42	chr5:37838871-37838921	SK-N-SH_RA	brain:	n/a
43	chr5:37838871-37838921	HEK293	kidney:	embryo
44	chr5:37838871-37838921	SK-N-MC	brain:	n/a
45	chr5:37838871-37838921	MCF10A-Er-Src	breast:	n/a
46	chr5:37838871-37838921	MCF-7	breast:	n/a
47	chr5:37838871-37838921	NHBE	bronchial:	n/a
48	chr5:37838871-37838921	HMEC	breast:	n/a
49	chr5:37838871-37838921	AoSMC	blood vessel:	n/a
50	chr5:37838871-37838921	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37837099..37839105-chr5:37840105..37842875,2	K562	blood:
2	chr5:37837605..37839454-chr5:37840945..37842875,2	K562	blood:

Variant related genes	Relation type
GDNF-AS1	TF binding region
GDNF	TF binding region
GDNF	CpG island
GDNF-AS1	CpG island
ENSG00000248587	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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	esv1844348	chr5:37835398-37840642	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1851519	chr5:37835398-37840642	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37834200-37839000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:37834200-37841000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:37834400-37840600	Bivalent Enhancer	Fetal Brain Male	brain
4	chr5:37834400-37841400	Bivalent/Poised TSS	Colonic Mucosa	Colon
5	chr5:37835000-37839800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
6	chr5:37835800-37840000	Bivalent Enhancer	Spleen	Spleen
7	chr5:37836000-37839400	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr5:37836200-37839000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:37836200-37840200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:37836200-37840600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
11	chr5:37836200-37840800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr5:37836200-37840800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr5:37836200-37840800	Active TSS	NHDF-Ad	bronchial
14	chr5:37836200-37841000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr5:37836200-37841000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:37836400-37839600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
17	chr5:37836400-37839600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
18	chr5:37836400-37839800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr5:37836400-37839800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
20	chr5:37836400-37840600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:37836400-37840600	Active TSS	HSMM	muscle
22	chr5:37836400-37840800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr5:37836400-37841200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:37836400-37841600	Active TSS	HSMMtube	muscle
25	chr5:37836600-37839000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:37836600-37839000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:37836600-37839400	Active TSS	Aorta	Aorta
28	chr5:37836600-37839800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr5:37836600-37839800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr5:37836600-37840000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr5:37836600-37840000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
32	chr5:37836600-37840200	Enhancers	Lung	lung
33	chr5:37836600-37841000	Flanking Active TSS	HMEC	breast
34	chr5:37836800-37839400	Flanking Active TSS	Liver	Liver
35	chr5:37837000-37839200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:37837000-37840600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr5:37837000-37840800	Active TSS	Osteobl	bone
38	chr5:37837400-37839200	Bivalent Enhancer	Fetal Heart	heart
39	chr5:37837400-37839600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
40	chr5:37837600-37839000	Active TSS	Right Ventricle	heart
41	chr5:37837600-37839200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:37837800-37839600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
43	chr5:37837800-37839600	Flanking Active TSS	NHEK	skin
44	chr5:37837800-37839800	Bivalent/Poised TSS	NHLF	lung
45	chr5:37838000-37839000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
46	chr5:37838000-37839000	Bivalent Enhancer	Fetal Lung	lung
47	chr5:37838000-37839000	Bivalent Enhancer	Stomach Mucosa	stomach
48	chr5:37838000-37839400	Active TSS	Right Atrium	heart
49	chr5:37838000-37839600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr5:37838000-37841200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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