Variant report

Variant	rs555621572
Chromosome Location	chr5:37836594-37836595
allele	C/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	MXI1	chr5:37836564-37836627	H1-hESC	embryonic stem cell:	n/a	n/a
2	SMC3	chr5:37836478-37838110	SK-N-SH	brain:	n/a	chr5:37837662-37837672 chr5:37837658-37837672 chr5:37837946-37837956
3	YY1	chr5:37836559-37837090	H1-hESC	embryonic stem cell:	n/a	n/a
4	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
5	RAD21	chr5:37836388-37837149	H1-hESC	embryonic stem cell:	n/a	n/a
6	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
7	MAX	chr5:37836556-37837935	A549	lung:	n/a	chr5:37837403-37837410 chr5:37837199-37837209 chr5:37837402-37837411 chr5:37837696-37837705 chr5:37837402-37837411
8	CTCF	chr5:37836480-37836630	AG04449	skin:	n/a	n/a
9	SUZ12	chr5:37836337-37837044	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr5:37836497-37837999	A549	lung:	n/a	chr5:37837403-37837410 chr5:37837199-37837209 chr5:37837402-37837411 chr5:37837696-37837705 chr5:37837402-37837411
11	RAD21	chr5:37836503-37838488	IMR90	lung:	n/a	chr5:37837660-37837673 chr5:37837657-37837676 chr5:37837662-37837674 chr5:37837662-37837672 chr5:37837656-37837670
12	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
13	E2F6	chr5:37836528-37837817	H1-hESC	embryonic stem cell:	n/a	chr5:37836831-37836840 chr5:37837060-37837072
14	ZNF143	chr5:37836563-37837051	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3A	chr5:37836550-37836742	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr5:37836587-37837005	H1-hESC	embryonic stem cell:	n/a	n/a
17	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
18	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
19	CTBP2	chr5:37836328-37837949	H1-hESC	embryonic stem cell:	n/a	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
ENSG00000248587	Chromatin interaction
ENSG00000168621	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37833400-37836600	Weak transcription	NHEK	skin
2	chr5:37834200-37836600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
3	chr5:37834200-37837800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
4	chr5:37834200-37838200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
5	chr5:37834200-37838400	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr5:37834200-37839000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:37834200-37841000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:37834400-37836800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:37834400-37836800	Bivalent Enhancer	Placenta	Placenta
10	chr5:37834400-37838800	Active TSS	Colon Smooth Muscle	Colon
11	chr5:37834400-37840600	Bivalent Enhancer	Fetal Brain Male	brain
12	chr5:37834400-37841400	Bivalent/Poised TSS	Colonic Mucosa	Colon
13	chr5:37834600-37836600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr5:37834600-37837800	Active TSS	Rectal Smooth Muscle	rectum
15	chr5:37834800-37836800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
16	chr5:37835000-37836600	Weak transcription	Right Atrium	heart
17	chr5:37835000-37839800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
18	chr5:37835200-37836600	Weak transcription	Gastric	stomach
19	chr5:37835200-37836600	Weak transcription	Ovary	ovary
20	chr5:37835200-37837000	Flanking Active TSS	Osteobl	bone
21	chr5:37835600-37836600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:37835800-37836600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:37835800-37840000	Bivalent Enhancer	Spleen	Spleen
24	chr5:37836000-37836600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:37836000-37836800	Flanking Bivalent TSS/Enh	NH-A	brain
26	chr5:37836000-37837000	Bivalent Enhancer	Fetal Thymus	thymus
27	chr5:37836000-37839400	Bivalent/Poised TSS	Fetal Kidney	kidney
28	chr5:37836200-37836600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr5:37836200-37836600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:37836200-37836600	Bivalent Enhancer	Liver	Liver
31	chr5:37836200-37836800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr5:37836200-37836800	Bivalent Enhancer	Fetal Lung	lung
33	chr5:37836200-37836800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr5:37836200-37837200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:37836200-37837800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:37836200-37837800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:37836200-37839000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:37836200-37840200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:37836200-37840600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr5:37836200-37840800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr5:37836200-37840800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr5:37836200-37840800	Active TSS	NHDF-Ad	bronchial
43	chr5:37836200-37841000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
44	chr5:37836200-37841000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:37836400-37836600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:37836400-37836600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:37836400-37836600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr5:37836400-37836600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:37836400-37836600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr5:37836400-37836600	Bivalent Enhancer	Adipose Nuclei	Adipose

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