Variant report

Variant	rs545689245
Chromosome Location	chr5:37839961-37839962
allele	C/T
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	CTCF	chr5:37839920-37840070	AoAF	blood vessel:	n/a	n/a
2	POLR2A	chr5:37839792-37840931	IMR90	lung:	n/a	n/a
3	CTBP2	chr5:37839040-37840731	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr5:37839598-37840171	H1-hESC	embryonic stem cell:	n/a	chr5:37839794-37839804 chr5:37839800-37839810 chr5:37839797-37839807 chr5:37839877-37839887
5	RAD21	chr5:37839833-37841082	IMR90	lung:	n/a	chr5:37840712-37840722 chr5:37840433-37840446
6	HDAC2	chr5:37839830-37840138	HepG2	liver:	n/a	n/a
7	CTCF	chr5:37839925-37840128	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:37839902-37840121	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr5:37839902-37840074	MCF-7	breast:	n/a	n/a
10	MAX	chr5:37839899-37840151	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3A	chr5:37839736-37840035	H1-hESC	embryonic stem cell:	n/a	chr5:37839936-37839947 chr5:37839936-37839949
12	MAX	chr5:37839743-37840858	A549	lung:	n/a	chr5:37840289-37840299
13	CTCF	chr5:37839920-37840070	AG04449	skin:	n/a	n/a
14	CTCF	chr5:37839944-37840077	Fibrobl	skin:	n/a	n/a
15	CTCF	chr5:37839920-37840070	AG04450	lung:	n/a	n/a
16	MYC	chr5:37839934-37840084	HepG2	liver:	n/a	n/a
17	MAX	chr5:37839803-37840190	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr5:37839960-37840110	SAEC	small airway:	n/a	n/a
19	ZNF263	chr5:37839746-37841001	HEK293-T-REx	kidney:	n/a	chr5:37840249-37840258
20	BHLHE40	chr5:37839864-37840661	HepG2	liver:	n/a	chr5:37839968-37839984 chr5:37839973-37839989 chr5:37839947-37839963
21	TBP	chr5:37839923-37840077	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr5:37839808-37840269	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr5:37839925-37840067	HepG2	liver:	n/a	n/a
24	SUZ12	chr5:37838338-37840103	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr5:37839940-37840090	AG09319	gingival:	n/a	n/a
26	CTCF	chr5:37839959-37840064	LNCaP	prostate:	n/a	n/a
27	MAX	chr5:37839740-37840787	HepG2	liver:	n/a	chr5:37840289-37840299
28	MXI1	chr5:37839252-37840328	IMR90	lung:	n/a	chr5:37839378-37839387
29	CTCF	chr5:37839880-37840030	GM12865	blood:	n/a	n/a
30	CTCF	chr5:37839952-37840051	ProgFib	skin:	n/a	n/a
31	SIN3AK20	chr5:37839881-37840161	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr5:37839960-37840110	HEEpiC	esophagus:	n/a	n/a
33	MAX	chr5:37839785-37840217	MCF-7	breast:	n/a	n/a
34	MAZ	chr5:37838894-37841199	IMR90	lung:	n/a	chr5:37839592-37839602 chr5:37840289-37840299 chr5:37839378-37839388 chr5:37839135-37839145
35	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
36	CTCF	chr5:37839920-37840070	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr5:37839946-37840083	NHEK	skin:	n/a	n/a
38	CTCF	chr5:37839870-37840127	IMR90	lung:	n/a	n/a
39	CTCF	chr5:37839941-37840070	MCF-7	breast:	n/a	n/a
40	POLR2A	chr5:37839876-37841002	ProgFib	skin:	n/a	n/a
41	CTCF	chr5:37839940-37840090	SAEC	small airway:	n/a	n/a
42	MAX	chr5:37839552-37840816	H1-hESC	embryonic stem cell:	n/a	chr5:37839592-37839602 chr5:37840289-37840299
43	MAX	chr5:37839844-37840314	SK-N-SH	brain:	n/a	chr5:37840289-37840299
44	CTCF	chr5:37839960-37840110	HCFaa	heart:	n/a	n/a
45	CTCF	chr5:37839880-37840030	GM12869	blood:	n/a	n/a
46	CTCF	chr5:37839940-37840090	HBMEC	blood vessel:	n/a	n/a
47	POLR2A	chr5:37839943-37841081	U87	brain:	n/a	n/a
48	CTCF	chr5:37839960-37840110	HMEC	breast:	n/a	n/a
49	CTCF	chr5:37839920-37840070	WERI-Rb-1	eye:	n/a	n/a
50	ZNF143	chr5:37839842-37839992	H1-hESC	embryonic stem cell:	n/a	chr5:37839946-37839964

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37839943-37839993	AG09319	gingival:	n/a
2	chr5:37839918-37839968	NHBE	bronchial:	n/a
3	chr5:37839943-37839993	LNCaP	prostate:	n/a
4	chr5:37839923-37839973	GM19239	blood:	n/a
5	chr5:37839923-37839973	NHDF-neo	bronchial:	n/a
6	chr5:37839943-37839993	HNPCEpiC	eye:	n/a
7	chr5:37839943-37839993	GM12878	blood:	n/a
8	chr5:37839918-37839968	SK-N-SH_RA	brain:	n/a
9	chr5:37839923-37839973	HRCEpiC	kidney:	n/a
10	chr5:37839918-37839968	HPAEpiC	pulmonary alveolar:	n/a
11	chr5:37839918-37839968	HEEpiC	esophagus:	n/a
12	chr5:37839918-37839968	HIPEpiC	eye:	n/a
13	chr5:37839918-37839968	AoSMC	blood vessel:	n/a
14	chr5:37839923-37839973	AG09309	skin:	n/a
15	chr5:37839918-37839968	SAEC	small airway:	n/a
16	chr5:37839923-37839973	ECC-1	luminal epithelium:	n/a
17	chr5:37839943-37839993	NT2-D1	testis:	n/a
18	chr5:37839923-37839973	HEK293	kidney:	embryo
19	chr5:37839918-37839968	AG09309	skin:	n/a
20	chr5:37839943-37839993	NH-A	brain:	n/a
21	chr5:37839923-37839973	Caco-2	colon:	n/a
22	chr5:37839943-37839993	T-47D	breast:	n/a
23	chr5:37839923-37839973	MCF-7	breast:	n/a
24	chr5:37839923-37839973	SK-N-MC	brain:	n/a
25	chr5:37839943-37839993	HepG2	liver:	n/a
26	chr5:37839943-37839993	GM19239	blood:	n/a
27	chr5:37839918-37839968	HCT-116	colon:	n/a
28	chr5:37839923-37839973	HMEC	breast:	n/a
29	chr5:37839923-37839973	AG04450	lung:	fetal
30	chr5:37839943-37839993	HRE	kidney:	n/a
31	chr5:37839918-37839968	BJ	skin:	n/a
32	chr5:37839918-37839968	NB4	blood:	n/a
33	chr5:37839943-37839993	GM06990	blood:	n/a
34	chr5:37839923-37839973	HCPEpiC	choroid plexus:	n/a
35	chr5:37839923-37839973	ProgFib	skin:	n/a
36	chr5:37839943-37839993	HIPEpiC	eye:	n/a
37	chr5:37839943-37839993	HRCEpiC	kidney:	n/a
38	chr5:37839943-37839993	HCPEpiC	choroid plexus:	n/a
39	chr5:37839943-37839993	HMEC	breast:	n/a
40	chr5:37839918-37839968	Hela-S3	cervix:	n/a
41	chr5:37839923-37839973	A549	lung:	n/a
42	chr5:37839918-37839968	K562	blood:	n/a
43	chr5:37839918-37839968	HNPCEpiC	eye:	n/a
44	chr5:37839918-37839968	HepG2	liver:	n/a
45	chr5:37839923-37839973	HRE	kidney:	n/a
46	chr5:37839918-37839968	NHDF-neo	bronchial:	n/a
47	chr5:37839923-37839973	SAEC	small airway:	n/a
48	chr5:37839923-37839973	HAEpiC	amniotic membrane:	n/a
49	chr5:37839918-37839968	GM19239	blood:	n/a
50	chr5:37839923-37839973	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37834038..37837439-chr5:37839505..37841588,3	MCF-7	breast:

Variant related genes	Relation type
GDNF-AS1	TF binding region
GDNF	TF binding region
GDNF	CpG island
GDNF-AS1	CpG island
ENSG00000168621	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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
5	esv1833785	chr5:37839618-37840621	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1838210	chr5:37839618-37840621	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1839230	chr5:37839618-37840621	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1840288	chr5:37839618-37840621	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv597849	chr5:37839618-37840642	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	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
11	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
12	esv13245	chr5:37839636-37840756	Enhancers Flanking Bivalent TSS/Enh 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
13	nsv597850	chr5:37839726-37840243	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	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
15	nsv597851	chr5:37839777-37840352	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv597852	chr5:37839885-37840407	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv597853	chr5:37839936-37840509	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 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	chr5:37834400-37840600	Bivalent Enhancer	Fetal Brain Male	brain
3	chr5:37834400-37841400	Bivalent/Poised TSS	Colonic Mucosa	Colon
4	chr5:37835800-37840000	Bivalent Enhancer	Spleen	Spleen
5	chr5:37836200-37840200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:37836200-37840600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr5:37836200-37840800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr5:37836200-37840800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr5:37836200-37840800	Active TSS	NHDF-Ad	bronchial
10	chr5:37836200-37841000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr5:37836200-37841000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:37836400-37840600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:37836400-37840600	Active TSS	HSMM	muscle
14	chr5:37836400-37840800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:37836400-37841200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr5:37836400-37841600	Active TSS	HSMMtube	muscle
17	chr5:37836600-37840000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr5:37836600-37840000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
19	chr5:37836600-37840200	Enhancers	Lung	lung
20	chr5:37836600-37841000	Flanking Active TSS	HMEC	breast
21	chr5:37837000-37840600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:37837000-37840800	Active TSS	Osteobl	bone
23	chr5:37838000-37841200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr5:37838200-37840000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
25	chr5:37838200-37841400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr5:37838400-37840800	Active TSS	Rectal Smooth Muscle	rectum
27	chr5:37838400-37841000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:37838600-37840200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:37838600-37841000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:37838600-37841000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
31	chr5:37839000-37840000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:37839200-37840000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:37839200-37840000	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr5:37839200-37840200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
35	chr5:37839200-37840600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
36	chr5:37839200-37840800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr5:37839200-37840800	Active TSS	Colon Smooth Muscle	Colon
38	chr5:37839200-37841000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:37839400-37840000	Bivalent Enhancer	HUVEC	blood vessel
40	chr5:37839400-37840400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr5:37839400-37840400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:37839400-37840600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:37839400-37840600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:37839400-37840600	Active TSS	Fetal Kidney	kidney
45	chr5:37839400-37840800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:37839400-37841000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:37839600-37840000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr5:37839600-37840000	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
49	chr5:37839600-37840200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:37839600-37840200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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