Variant report

Variant	rs566064073
Chromosome Location	chr5:37836790-37836791
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	SMC3	chr5:37836478-37838110	SK-N-SH	brain:	n/a	chr5:37837662-37837672 chr5:37837658-37837672 chr5:37837946-37837956
2	YY1	chr5:37836559-37837090	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr5:37836554-37837981	SK-N-SH	brain:	n/a	chr5:37837403-37837410 chr5:37837199-37837209 chr5:37837402-37837411 chr5:37837696-37837705 chr5:37837402-37837411
4	RAD21	chr5:37836388-37837149	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr5:37836564-37837849	H1-hESC	embryonic stem cell:	n/a	chr5:37837403-37837410 chr5:37837199-37837209 chr5:37837402-37837411 chr5:37837696-37837705 chr5:37837402-37837411
6	YY1	chr5:37836644-37836909	A549	lung:	n/a	n/a
7	MAX	chr5:37836612-37838155	SK-N-SH	brain:	n/a	chr5:37837403-37837410 chr5:37837199-37837209 chr5:37837402-37837411 chr5:37837696-37837705 chr5:37837402-37837411
8	MAX	chr5:37836556-37837935	A549	lung:	n/a	chr5:37837403-37837410 chr5:37837199-37837209 chr5:37837402-37837411 chr5:37837696-37837705 chr5:37837402-37837411
9	POLR2A	chr5:37836766-37838645	U87	brain:	n/a	n/a
10	RCOR1	chr5:37836628-37839609	IMR90	lung:	n/a	n/a
11	YY1	chr5:37836692-37836976	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr5:37836714-37838837	SK-N-SH	brain:	n/a	chr5:37837658-37837679 chr5:37838657-37838670 chr5:37837659-37837672 chr5:37838584-37838597 chr5:37837979-37837992 chr5:37837656-37837674
13	MAZ	chr5:37836600-37838833	IMR90	lung:	n/a	chr5:37837403-37837410 chr5:37837199-37837209 chr5:37837402-37837411 chr5:37837696-37837705 chr5:37837402-37837411
14	SUZ12	chr5:37836337-37837044	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr5:37836497-37837999	A549	lung:	n/a	chr5:37837403-37837410 chr5:37837199-37837209 chr5:37837402-37837411 chr5:37837696-37837705 chr5:37837402-37837411
16	YY1	chr5:37836641-37837269	SK-N-SH	brain:	n/a	n/a
17	E2F6	chr5:37836660-37837366	A549	lung:	n/a	chr5:37836831-37836840 chr5:37837060-37837072
18	CTCF	chr5:37836760-37836910	HFF	foreskin:	n/a	n/a
19	MXI1	chr5:37836671-37838760	IMR90	lung:	n/a	chr5:37837880-37837895
20	RAD21	chr5:37836503-37838488	IMR90	lung:	n/a	chr5:37837660-37837673 chr5:37837657-37837676 chr5:37837662-37837674 chr5:37837662-37837672 chr5:37837656-37837670
21	YY1	chr5:37836619-37837039	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr5:37836562-37838089	H1-hESC	embryonic stem cell:	n/a	chr5:37837403-37837410 chr5:37837199-37837209 chr5:37837402-37837411 chr5:37837696-37837705 chr5:37837402-37837411
23	E2F6	chr5:37836528-37837817	H1-hESC	embryonic stem cell:	n/a	chr5:37836831-37836840 chr5:37837060-37837072
24	POLR2A	chr5:37836738-37837914	IMR90	lung:	n/a	n/a
25	CTCF	chr5:37836720-37836870	AG09309	skin:	n/a	n/a
26	GTF2F1	chr5:37836750-37836904	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr5:37836615-37838066	IMR90	lung:	n/a	n/a
28	ZNF143	chr5:37836563-37837051	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr5:37836587-37837005	H1-hESC	embryonic stem cell:	n/a	n/a
30	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
31	TBP	chr5:37836599-37836938	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr5:37836511-37837966	H1-hESC	embryonic stem cell:	n/a	chr5:37837403-37837410 chr5:37837199-37837209 chr5:37837402-37837411 chr5:37837696-37837705 chr5:37837402-37837411
33	CTBP2	chr5:37836328-37837949	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr5:37836746-37836914	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:37836748-37836798	HRE	kidney:	n/a
2	chr5:37836748-37836798	Hela-S3	cervix:	n/a
3	chr5:37836748-37836798	AG10803	skin:	n/a
4	chr5:37836748-37836798	AG04450	lung:	fetal
5	chr5:37836748-37836798	PrEC	prostate:	n/a
6	chr5:37836748-37836798	HCF	heart:	n/a
7	chr5:37836748-37836798	HepG2	liver:	n/a
8	chr5:37836748-37836798	SK-N-SH_RA	brain:	n/a
9	chr5:37836748-37836798	Caco-2	colon:	n/a
10	chr5:37836748-37836798	BE2_C	brain:	n/a
11	chr5:37836748-37836798	BJ	skin:	n/a
12	chr5:37836748-37836798	RPTEC	kidney:	n/a
13	chr5:37836748-37836798	SK-N-MC	brain:	n/a
14	chr5:37836748-37836798	T-47D	breast:	n/a
15	chr5:37836748-37836798	HCT-116	colon:	n/a
16	chr5:37836748-37836798	HPAEpiC	pulmonary alveolar:	n/a
17	chr5:37836748-37836798	MCF10A-Er-Src	breast:	n/a
18	chr5:37836748-37836798	HCM	heart:	n/a
19	chr5:37836748-37836798	Jurkat	blood:	n/a
20	chr5:37836748-37836798	IMR90	lung:	fetal
21	chr5:37836748-37836798	HCPEpiC	choroid plexus:	n/a
22	chr5:37836748-37836798	HEK293	kidney:	embryo
23	chr5:37836748-37836798	MCF-7	breast:	n/a
24	chr5:37836748-37836798	NH-A	brain:	n/a
25	chr5:37836748-37836798	A549	lung:	n/a
26	chr5:37836748-37836798	ovcar-3	ovarian:	n/a
27	chr5:37836748-37836798	HEEpiC	esophagus:	n/a
28	chr5:37836748-37836798	GM12891	blood:	n/a
29	chr5:37836748-37836798	HRPEpiC	eye:	n/a
30	chr5:37836748-37836798	GM06990	blood:	n/a
31	chr5:37836748-37836798	SK-N-SH	brain:	n/a
32	chr5:37836748-37836798	GM12878	blood:	n/a
33	chr5:37836748-37836798	Hepatocyte	liver:	n/a
34	chr5:37836748-37836798	SKMC	muscle:	n/a
35	chr5:37836748-37836798	SAEC	small airway:	n/a
36	chr5:37836748-37836798	NB4	blood:	n/a
37	chr5:37836748-37836798	ProgFib	skin:	n/a
38	chr5:37836748-37836798	LNCaP	prostate:	n/a
39	chr5:37836748-37836798	PFSK-1	brain:	n/a
40	chr5:37836748-37836798	GM19239	blood:	n/a
41	chr5:37836748-37836798	HNPCEpiC	eye:	n/a
42	chr5:37836748-37836798	NT2-D1	testis:	n/a
43	chr5:37836748-37836798	AG09319	gingival:	n/a
44	chr5:37836748-37836798	ECC-1	luminal epithelium:	n/a
45	chr5:37836748-37836798	AoSMC	blood vessel:	n/a
46	chr5:37836748-37836798	AG09309	skin:	n/a
47	chr5:37836748-37836798	HAEpiC	amniotic membrane:	n/a
48	chr5:37836748-37836798	GM12892	blood:	n/a
49	chr5:37836748-37836798	NHBE	bronchial:	n/a
50	chr5:37836748-37836798	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37834038..37837439-chr5:37839505..37841588,3	MCF-7	breast:
2	chr5:37836730..37838460-chr5:38192942..38193858,10	MCF-7	breast:

Variant related genes	Relation type
GDNF	TF binding region
GDNF-AS1	TF binding region
GDNF	CpG island
GDNF-AS1	CpG island
ENSG00000168621	Chromatin interaction
ENSG00000248587	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37834200-37837800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
2	chr5:37834200-37838200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
3	chr5:37834200-37838400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr5:37834200-37839000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:37834200-37841000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:37834400-37836800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:37834400-37836800	Bivalent Enhancer	Placenta	Placenta
8	chr5:37834400-37838800	Active TSS	Colon Smooth Muscle	Colon
9	chr5:37834400-37840600	Bivalent Enhancer	Fetal Brain Male	brain
10	chr5:37834400-37841400	Bivalent/Poised TSS	Colonic Mucosa	Colon
11	chr5:37834600-37837800	Active TSS	Rectal Smooth Muscle	rectum
12	chr5:37834800-37836800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
13	chr5:37835000-37839800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
14	chr5:37835200-37837000	Flanking Active TSS	Osteobl	bone
15	chr5:37835800-37840000	Bivalent Enhancer	Spleen	Spleen
16	chr5:37836000-37836800	Flanking Bivalent TSS/Enh	NH-A	brain
17	chr5:37836000-37837000	Bivalent Enhancer	Fetal Thymus	thymus
18	chr5:37836000-37839400	Bivalent/Poised TSS	Fetal Kidney	kidney
19	chr5:37836200-37836800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr5:37836200-37836800	Bivalent Enhancer	Fetal Lung	lung
21	chr5:37836200-37836800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
22	chr5:37836200-37837200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:37836200-37837800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:37836200-37837800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:37836200-37839000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:37836200-37840200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:37836200-37840600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr5:37836200-37840800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr5:37836200-37840800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr5:37836200-37840800	Active TSS	NHDF-Ad	bronchial
31	chr5:37836200-37841000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
32	chr5:37836200-37841000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:37836400-37836800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:37836400-37836800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:37836400-37836800	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
36	chr5:37836400-37836800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:37836400-37836800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:37836400-37836800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
39	chr5:37836400-37837000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr5:37836400-37837000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:37836400-37837000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:37836400-37837000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
43	chr5:37836400-37837000	Bivalent Enhancer	Left Ventricle	heart
44	chr5:37836400-37837000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr5:37836400-37837000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
46	chr5:37836400-37837200	Bivalent/Poised TSS	Fetal Brain Female	brain
47	chr5:37836400-37837400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
48	chr5:37836400-37837400	Enhancers	Pancreas	Pancrea
49	chr5:37836400-37837600	Bivalent Enhancer	Small Intestine	intestine
50	chr5:37836400-37837800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links