Variant report

Variant	rs536881811
Chromosome Location	chr18:44526498-44526499
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	FOXA1	chr18:44526480-44526800	T-47D	breast:	n/a	n/a
2	NFYB	chr18:44526443-44527266	K562	blood:	n/a	chr18:44526610-44526624 chr18:44526613-44526625 chr18:44526722-44526735
3	SP1	chr18:44526485-44526937	GM12878	blood:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
4	SIN3A	chr18:44526340-44527294	H1-hESC	embryonic stem cell:	n/a	chr18:44526352-44526362
5	MAX	chr18:44526478-44527168	H1-hESC	embryonic stem cell:	n/a	chr18:44526966-44526975
6	SP2	chr18:44526421-44526941	H1-hESC	embryonic stem cell:	n/a	chr18:44526737-44526746
7	SP1	chr18:44526408-44526971	A549	lung:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
8	MXI1	chr18:44525780-44527672	SK-N-SH	brain:	n/a	chr18:44526964-44526979 chr18:44526966-44526981
9	SIN3AK20	chr18:44526447-44527407	MCF-7	breast:	n/a	n/a
10	PBX3	chr18:44526387-44527322	SK-N-SH	brain:	n/a	chr18:44526612-44526621
11	NFYA	chr18:44526139-44526876	GM12878	blood:	n/a	chr18:44526610-44526624 chr18:44526613-44526625 chr18:44526722-44526735
12	CHD2	chr18:44526479-44527130	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr18:44526441-44527223	ECC-1	luminal epithelium:	n/a	chr18:44526966-44526975
14	PBX3	chr18:44526396-44527024	SK-N-SH	brain:	n/a	chr18:44526612-44526621
15	SP1	chr18:44526439-44526875	GM12878	blood:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
16	SP1	chr18:44526413-44526967	H1-hESC	embryonic stem cell:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
17	NFYA	chr18:44526458-44526911	K562	blood:	n/a	chr18:44526610-44526624 chr18:44526613-44526625 chr18:44526722-44526735
18	POU2F2	chr18:44526478-44527143	GM12891	blood:	n/a	n/a
19	PBX3	chr18:44526434-44526966	A549	lung:	n/a	chr18:44526612-44526621
20	SP1	chr18:44526404-44526946	A549	lung:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
21	NFYB	chr18:44526330-44527343	GM12878	blood:	n/a	chr18:44526610-44526624 chr18:44526613-44526625 chr18:44526722-44526735
22	SP2	chr18:44526458-44527079	H1-hESC	embryonic stem cell:	n/a	chr18:44526737-44526746

Variant related genes	Relation type
KATNAL2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv576813	chr18:44481641-44531283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1057629	chr18:44500259-44539223	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1062444	chr18:44503472-44539223	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1062682	chr18:44509052-44539223	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv1056744	chr18:44509052-44581752	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv909609	chr18:44513071-44597092	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv1818108	chr18:44519357-44549177	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1825684	chr18:44526351-44549177	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44520200-44526800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:44525400-44526600	Enhancers	Gastric	stomach
3	chr18:44526000-44527600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr18:44526200-44526600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
5	chr18:44526200-44526600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:44526200-44526600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:44526200-44526600	Enhancers	Primary B cells from peripheral blood	blood
8	chr18:44526200-44526600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr18:44526200-44526600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr18:44526200-44526600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr18:44526200-44526600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr18:44526200-44526600	Flanking Active TSS	Fetal Brain Male	brain
13	chr18:44526200-44526600	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr18:44526200-44526600	Enhancers	Left Ventricle	heart
15	chr18:44526200-44526600	Flanking Active TSS	NH-A	brain
16	chr18:44526200-44527200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr18:44526200-44527200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr18:44526200-44527200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr18:44526200-44527200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr18:44526200-44527200	Active TSS	Liver	Liver
21	chr18:44526200-44527200	Active TSS	Brain Anterior Caudate	brain
22	chr18:44526200-44527200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr18:44526200-44527200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr18:44526200-44527200	Active TSS	Fetal Brain Female	brain
25	chr18:44526200-44527200	Active TSS	Fetal Heart	heart
26	chr18:44526200-44527200	Active TSS	GM12878-XiMat	blood
27	chr18:44526200-44527400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:44526200-44527400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr18:44526200-44527400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:44526200-44527400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr18:44526200-44527400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr18:44526200-44527400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:44526200-44527400	Active TSS	Brain Angular Gyrus	brain
34	chr18:44526200-44527400	Active TSS	Brain Cingulate Gyrus	brain
35	chr18:44526200-44527400	Active TSS	Brain Hippocampus Middle	brain
36	chr18:44526200-44527400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr18:44526200-44527400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr18:44526200-44527400	Active TSS	Rectal Smooth Muscle	rectum
39	chr18:44526200-44527600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr18:44526200-44527600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:44526200-44527600	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr18:44526200-44527600	Active TSS	Fetal Kidney	kidney
43	chr18:44526200-44527600	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr18:44526400-44526600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr18:44526400-44526600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr18:44526400-44526600	Active TSS	Primary hematopoietic stem cells	blood
47	chr18:44526400-44526600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr18:44526400-44526600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
49	chr18:44526400-44526600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr18:44526400-44526600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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