Variant report

Variant	rs4797313
Chromosome Location	chr18:8367675-8367676
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	CTCF	chr18:8367580-8367730	BE2_C	brain:	n/a	n/a
2	CTCF	chr18:8367540-8367690	Caco-2	colon:	n/a	n/a
3	YY1	chr18:8367309-8367736	H1-hESC	embryonic stem cell:	n/a	chr18:8367593-8367602
4	ELF1	chr18:8367261-8367761	GM12878	blood:	n/a	chr18:8367516-8367525
5	ATF2	chr18:8367243-8367675	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr18:8367437-8367691	GM19240	blood:	n/a	n/a
7	CTCF	chr18:8367640-8367790	A549	lung:	n/a	n/a
8	CTCF	chr18:8367284-8367843	HCT-116	colon:	n/a	chr18:8367313-8367326
9	CTCF	chr18:8367560-8367710	AG10803	skin:	n/a	n/a
10	RAD21	chr18:8367458-8367713	K562	blood:	n/a	n/a
11	CTCF	chr18:8367443-8367695	GM19238	blood:	n/a	n/a
12	MAZ	chr18:8367406-8367728	K562	blood:	n/a	n/a
13	SIN3A	chr18:8367159-8367727	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF143	chr18:8367419-8367711	GM12878	blood:	n/a	chr18:8367691-8367709
15	CTCF	chr18:8367375-8367759	GM12878	blood:	n/a	n/a
16	CTCF	chr18:8367580-8367730	WI-38	lung:	n/a	n/a
17	CTCF	chr18:8367394-8367737	IMR90	lung:	n/a	n/a
18	CTCF	chr18:8367448-8367732	ProgFib	skin:	n/a	n/a
19	CTCF	chr18:8367436-8367682	H1-hESC	embryonic stem cell:	n/a	n/a
20	YY1	chr18:8367154-8367798	H1-hESC	embryonic stem cell:	n/a	chr18:8367306-8367320 chr18:8367593-8367602
21	CTCF	chr18:8367540-8367690	GM06990	blood:	n/a	n/a
22	ELF1	chr18:8367365-8367692	K562	blood:	n/a	chr18:8367516-8367525
23	CTCF	chr18:8367443-8367699	Fibrobl	skin:	n/a	n/a
24	CEBPB	chr18:8367345-8367718	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF143	chr18:8367454-8367701	K562	blood:	n/a	n/a
26	TCF12	chr18:8367278-8367753	H1-hESC	embryonic stem cell:	n/a	n/a
27	UBTF	chr18:8367397-8367729	K562	blood:	n/a	n/a
28	CTCF	chr18:8367600-8367750	GM06990	blood:	n/a	n/a
29	UBTF	chr18:8367422-8367703	K562	blood:	n/a	n/a
30	CTCF	chr18:8367540-8367690	AG04450	lung:	n/a	n/a
31	E2F6	chr18:8366506-8367846	H1-hESC	embryonic stem cell:	n/a	chr18:8367374-8367383
32	CTCF	chr18:8367540-8367690	HVMF	connective:	n/a	n/a
33	CTCF	chr18:8367540-8367690	GM12872	blood:	n/a	n/a
34	ZNF143	chr18:8367406-8367728	H1-hESC	embryonic stem cell:	n/a	chr18:8367415-8367425 chr18:8367691-8367709
35	CTCF	chr18:8367540-8367690	BJ	skin:	n/a	n/a
36	CCNT2	chr18:8367482-8367720	K562	blood:	n/a	n/a
37	MYC	chr18:8367336-8367728	H1-hESC	embryonic stem cell:	n/a	n/a
38	RAD21	chr18:8367378-8367768	ECC-1	luminal epithelium:	n/a	n/a
39	CTCF	chr18:8367406-8367743	K562	blood:	n/a	n/a
40	CTCF	chr18:8367362-8367786	K562	blood:	n/a	n/a
41	CTCF	chr18:8367487-8367685	Medullo	brain:	n/a	n/a
42	CTCF	chr18:8367433-8367698	K562	blood:	n/a	n/a
43	CTCF	chr18:8367540-8367690	GM12865	blood:	n/a	n/a
44	MAX	chr18:8367309-8367697	K562	blood:	n/a	n/a
45	CTCF	chr18:8367412-8367685	NHEK	skin:	n/a	n/a
46	CTCF	chr18:8367426-8367688	GM13977	blood:	n/a	n/a
47	CTCF	chr18:8367369-8367771	K562	blood:	n/a	n/a
48	E2F6	chr18:8367137-8367778	H1-hESC	embryonic stem cell:	n/a	chr18:8367374-8367383
49	CTBP2	chr18:8367260-8367782	H1-hESC	embryonic stem cell:	n/a	n/a
50	HMGN3	chr18:8367318-8367736	K562	blood:	n/a	n/a

Variant related genes	Relation type
PTPRM	TF binding region
ENSG00000266149	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4797312	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9962195	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4797313	C18orf18	cis	parietal	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8352600-8372600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr18:8355200-8378200	Weak transcription	Gastric	stomach
3	chr18:8358400-8378200	Weak transcription	HepG2	liver
4	chr18:8363200-8369000	Enhancers	Fetal Heart	heart
5	chr18:8364200-8375800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:8365400-8378200	Weak transcription	Colon Smooth Muscle	Colon
7	chr18:8366200-8370800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:8366600-8375200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr18:8366800-8367800	Bivalent Enhancer	Fetal Brain Male	brain
10	chr18:8366800-8367800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr18:8367000-8367800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:8367000-8367800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:8367000-8368000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr18:8367000-8368000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr18:8367200-8367800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr18:8367200-8367800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr18:8367200-8367800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr18:8367200-8367800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
19	chr18:8367200-8367800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr18:8367200-8367800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr18:8367200-8367800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr18:8367200-8367800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr18:8367200-8367800	Enhancers	Liver	Liver
24	chr18:8367200-8367800	Active TSS	Brain Anterior Caudate	brain
25	chr18:8367200-8367800	Active TSS	Brain Cingulate Gyrus	brain
26	chr18:8367200-8367800	Active TSS	Brain Germinal Matrix	brain
27	chr18:8367200-8367800	Active TSS	Brain Hippocampus Middle	brain
28	chr18:8367200-8367800	Active TSS	Colonic Mucosa	Colon
29	chr18:8367200-8367800	Bivalent Enhancer	Fetal Lung	lung
30	chr18:8367200-8367800	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr18:8367200-8367800	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr18:8367200-8367800	Active TSS	HSMM	muscle
33	chr18:8367200-8367800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr18:8367200-8367800	Active TSS	NHLF	lung
35	chr18:8367200-8368000	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr18:8367200-8368000	Active TSS	Primary T cells from cord blood	blood
37	chr18:8367200-8368000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr18:8367200-8368000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:8367400-8367800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:8367400-8367800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr18:8367400-8367800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr18:8367400-8367800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr18:8367400-8367800	Enhancers	Aorta	Aorta
44	chr18:8367400-8367800	Active TSS	Esophagus	oesophagus
45	chr18:8367400-8367800	Flanking Active TSS	Fetal Thymus	thymus
46	chr18:8367400-8367800	Active TSS	Ovary	ovary
47	chr18:8367400-8367800	Active TSS	Thymus	Thymus
48	chr18:8367400-8368000	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr18:8367400-8369800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr18:8367400-8371400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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