Variant report

Variant	rs4670570
Chromosome Location	chr2:36825932-36825933
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:36823795-36826003	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr2:36823766-36825979	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:36825888-36825938	H1-hESC	embryonic stem cell:	embryo
2	chr2:36825888-36825938	A549	lung:	n/a
3	chr2:36825888-36825938	HMEC	breast:	n/a
4	chr2:36825888-36825938	U87	brain:	n/a
5	chr2:36825888-36825938	HCF	heart:	n/a
6	chr2:36825888-36825938	SK-N-MC	brain:	n/a
7	chr2:36825888-36825938	HepG2	liver:	n/a
8	chr2:36825888-36825938	AoSMC	blood vessel:	n/a
9	chr2:36825888-36825938	MCF10A-Er-Src	breast:	n/a
10	chr2:36825888-36825938	HL-60	blood:	n/a
11	chr2:36825888-36825938	ProgFib	skin:	n/a
12	chr2:36825888-36825938	MCF-7	breast:	n/a
13	chr2:36825888-36825938	RPTEC	kidney:	n/a
14	chr2:36825888-36825938	ECC-1	luminal epithelium:	n/a
15	chr2:36825888-36825938	HCT-116	colon:	n/a
16	chr2:36825888-36825938	BE2_C	brain:	n/a
17	chr2:36825888-36825938	AG09319	gingival:	n/a
18	chr2:36825888-36825938	HAEpiC	amniotic membrane:	n/a
19	chr2:36825888-36825938	K562	blood:	n/a
20	chr2:36825888-36825938	GM12891	blood:	n/a
21	chr2:36825888-36825938	AG04450	lung:	fetal
22	chr2:36825888-36825938	NHDF-neo	bronchial:	n/a
23	chr2:36825888-36825938	CMK	blood:	n/a
24	chr2:36825888-36825938	GM06990	blood:	n/a
25	chr2:36825888-36825938	Hela-S3	cervix:	n/a
26	chr2:36825888-36825938	SAEC	small airway:	n/a
27	chr2:36825888-36825938	HIPEpiC	eye:	n/a
28	chr2:36825888-36825938	PANC-1	pancreas:	n/a
29	chr2:36825888-36825938	NH-A	brain:	n/a
30	chr2:36825888-36825938	NB4	blood:	n/a
31	chr2:36825888-36825938	NT2-D1	testis:	n/a
32	chr2:36825888-36825938	AG09309	skin:	n/a
33	chr2:36825888-36825938	HUVEC	blood vessel:	n/a
34	chr2:36825888-36825938	HRE	kidney:	n/a
35	chr2:36825888-36825938	SKMC	muscle:	n/a
36	chr2:36825888-36825938	GM12892	blood:	n/a
37	chr2:36825888-36825938	HEEpiC	esophagus:	n/a
38	chr2:36825888-36825938	PrEC	prostate:	n/a
39	chr2:36825888-36825938	NHBE	bronchial:	n/a
40	chr2:36825888-36825938	GM19239	blood:	n/a
41	chr2:36825888-36825938	HNPCEpiC	eye:	n/a
42	chr2:36825888-36825938	HCM	heart:	n/a
43	chr2:36825888-36825938	AG10803	skin:	n/a
44	chr2:36825888-36825938	LNCaP	prostate:	n/a
45	chr2:36825888-36825938	HRPEpiC	eye:	n/a
46	chr2:36825888-36825938	Caco-2	colon:	n/a
47	chr2:36825888-36825938	HCPEpiC	choroid plexus:	n/a
48	chr2:36825888-36825938	HEK293	kidney:	embryo
49	chr2:36825888-36825938	PFSK-1	brain:	n/a
50	chr2:36825888-36825938	AG04449	skin:	fetal

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:36807436..36809716-chr2:36825542..36828230,2	K562	blood:
2	chr2:36825393..36826238-chr3:170587410..170588332,2	HCT-116	colon:
3	chr2:36816372..36820679-chr2:36821932..36827532,8	K562	blood:

No data

Variant related genes	Relation type
FEZ2	TF binding region
FEZ2	CpG island
ENSG00000171055	Chromatin interaction
ENSG00000256845	Chromatin interaction
ENSG00000163584	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11891876	0.80[CEU][hapmap]
rs4670148	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670149	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv2681	chr2:36822990-36848171	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv3339525	chr2:36824073-36826621	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3342085	chr2:36824398-36826396	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4670570	FEZ2	cis	multi-tissue	Pritchard
rs4670570	FEZ2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36824400-36826000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:36824400-36826000	Active TSS	Brain Angular Gyrus	brain
3	chr2:36824600-36826000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:36824600-36826000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr2:36825200-36826000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:36825400-36826000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:36825400-36826000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:36825400-36826000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr2:36825400-36826000	Flanking Active TSS	HepG2	liver
10	chr2:36825400-36826000	Flanking Active TSS	HUVEC	blood vessel
11	chr2:36825600-36826000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:36825600-36826000	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr2:36825800-36826000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr2:36825800-36826000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr2:36825800-36826000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:36825800-36826000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:36825800-36826000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:36825800-36826000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:36825800-36826000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:36825800-36826000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:36825800-36826000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:36825800-36826000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:36825800-36826000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:36825800-36826000	Enhancers	Adipose Nuclei	Adipose
25	chr2:36825800-36826000	Enhancers	Brain Hippocampus Middle	brain
26	chr2:36825800-36826000	Enhancers	Colon Smooth Muscle	Colon
27	chr2:36825800-36826000	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:36825800-36826000	Enhancers	Fetal Intestine Large	intestine
29	chr2:36825800-36826000	Enhancers	Fetal Intestine Small	intestine
30	chr2:36825800-36826000	Active TSS	Fetal Kidney	kidney
31	chr2:36825800-36826000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr2:36825800-36826000	Enhancers	Fetal Lung	lung
33	chr2:36825800-36826000	Enhancers	Fetal Stomach	stomach
34	chr2:36825800-36826000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:36825800-36826000	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:36825800-36826000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:36825800-36826000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:36825800-36826000	Active TSS	Stomach Mucosa	stomach
39	chr2:36825800-36826000	Enhancers	A549	lung
40	chr2:36825800-36826000	Enhancers	Dnd41	blood
41	chr2:36825800-36826000	Enhancers	Hela-S3	cervix
42	chr2:36825800-36826000	Enhancers	HMEC	breast
43	chr2:36825800-36826000	Enhancers	K562	blood
44	chr2:36825800-36826000	Enhancers	NH-A	brain
45	chr2:36825800-36826000	Enhancers	NHDF-Ad	bronchial
46	chr2:36825800-36826000	Enhancers	NHEK	skin
47	chr2:36825800-36826200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr2:36825800-36826200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:36825800-36826200	Enhancers	Fetal Muscle Trunk	muscle
50	chr2:36825800-36827600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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