Variant report

Variant	rs552906545
Chromosome Location	chr18:44526766-44526767
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	SIN3AK20	chr18:44526721-44527210	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOXA1	chr18:44526480-44526800	T-47D	breast:	n/a	n/a
3	PBX3	chr18:44526543-44526915	A549	lung:	n/a	chr18:44526612-44526621
4	SP4	chr18:44526576-44527188	H1-hESC	embryonic stem cell:	n/a	chr18:44526733-44526749
5	NFYB	chr18:44526443-44527266	K562	blood:	n/a	chr18:44526610-44526624 chr18:44526613-44526625 chr18:44526722-44526735
6	SIN3AK20	chr18:44526535-44527142	SK-N-SH	brain:	n/a	n/a
7	SP1	chr18:44526485-44526937	GM12878	blood:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
8	SIN3A	chr18:44526340-44527294	H1-hESC	embryonic stem cell:	n/a	chr18:44526352-44526362
9	MXI1	chr18:44526556-44527252	H1-hESC	embryonic stem cell:	n/a	chr18:44526964-44526979 chr18:44526966-44526981
10	MAX	chr18:44526478-44527168	H1-hESC	embryonic stem cell:	n/a	chr18:44526966-44526975
11	SP2	chr18:44526421-44526941	H1-hESC	embryonic stem cell:	n/a	chr18:44526737-44526746
12	MAX	chr18:44526531-44527223	SK-N-SH	brain:	n/a	chr18:44526966-44526975
13	POLR2A	chr18:44526560-44527020	ECC-1	luminal epithelium:	n/a	n/a
14	GTF2F1	chr18:44526626-44526836	H1-hESC	embryonic stem cell:	n/a	n/a
15	SP1	chr18:44526408-44526971	A549	lung:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
16	MXI1	chr18:44525780-44527672	SK-N-SH	brain:	n/a	chr18:44526964-44526979 chr18:44526966-44526981
17	POLR2A	chr18:44526637-44527165	MCF-7	breast:	n/a	n/a
18	SP2	chr18:44526531-44526858	K562	blood:	n/a	chr18:44526737-44526746
19	CHD2	chr18:44526653-44526788	K562	blood:	n/a	n/a
20	SIN3AK20	chr18:44526447-44527407	MCF-7	breast:	n/a	n/a
21	PBX3	chr18:44526387-44527322	SK-N-SH	brain:	n/a	chr18:44526612-44526621
22	PBX3	chr18:44526531-44526820	GM12878	blood:	n/a	chr18:44526612-44526621
23	ZNF143	chr18:44526741-44527218	H1-hESC	embryonic stem cell:	n/a	n/a
24	NFYA	chr18:44526139-44526876	GM12878	blood:	n/a	chr18:44526610-44526624 chr18:44526613-44526625 chr18:44526722-44526735
25	CHD2	chr18:44526479-44527130	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr18:44526556-44526935	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr18:44526441-44527223	ECC-1	luminal epithelium:	n/a	chr18:44526966-44526975
28	POLR2A	chr18:44526677-44527248	Raji	blood:	n/a	n/a
29	PBX3	chr18:44526396-44527024	SK-N-SH	brain:	n/a	chr18:44526612-44526621
30	SP1	chr18:44526439-44526875	GM12878	blood:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
31	MAX	chr18:44526649-44526770	A549	lung:	n/a	n/a
32	SP1	chr18:44526413-44526967	H1-hESC	embryonic stem cell:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
33	NFYA	chr18:44526458-44526911	K562	blood:	n/a	chr18:44526610-44526624 chr18:44526613-44526625 chr18:44526722-44526735
34	POLR2A	chr18:44526567-44526935	ECC-1	luminal epithelium:	n/a	n/a
35	SP2	chr18:44526590-44526794	K562	blood:	n/a	chr18:44526737-44526746
36	POU2F2	chr18:44526478-44527143	GM12891	blood:	n/a	n/a
37	SIN3AK20	chr18:44526630-44527166	H1-hESC	embryonic stem cell:	n/a	n/a
38	PBX3	chr18:44526434-44526966	A549	lung:	n/a	chr18:44526612-44526621
39	SP1	chr18:44526404-44526946	A549	lung:	n/a	chr18:44526736-44526743 chr18:44526739-44526748
40	FOXA1	chr18:44526514-44526789	T-47D	breast:	n/a	n/a
41	PBX3	chr18:44526508-44526827	GM12878	blood:	n/a	chr18:44526612-44526621
42	NFYB	chr18:44526330-44527343	GM12878	blood:	n/a	chr18:44526610-44526624 chr18:44526613-44526625 chr18:44526722-44526735
43	SP1	chr18:44526511-44527309	H1-hESC	embryonic stem cell:	n/a	chr18:44527183-44527204 chr18:44526736-44526743 chr18:44526739-44526748
44	SP2	chr18:44526458-44527079	H1-hESC	embryonic stem cell:	n/a	chr18:44526737-44526746

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44526743-44526793	ProgFib	skin:	n/a
2	chr18:44526743-44526793	HRE	kidney:	n/a
3	chr18:44526743-44526793	HCF	heart:	n/a
4	chr18:44526743-44526793	AG04449	skin:	fetal
5	chr18:44526756-44526806	ECC-1	luminal epithelium:	n/a
6	chr18:44526743-44526793	AG10803	skin:	n/a
7	chr18:44526756-44526806	GM12892	blood:	n/a
8	chr18:44526743-44526793	HPAEpiC	pulmonary alveolar:	n/a
9	chr18:44526756-44526806	IMR90	lung:	fetal
10	chr18:44526756-44526806	H1-hESC	embryonic stem cell:	embryo
11	chr18:44526743-44526793	H1-hESC	embryonic stem cell:	embryo
12	chr18:44526756-44526806	NH-A	brain:	n/a
13	chr18:44526743-44526793	Jurkat	blood:	n/a
14	chr18:44526756-44526806	HUVEC	blood vessel:	n/a
15	chr18:44526756-44526806	HCT-116	colon:	n/a
16	chr18:44526743-44526793	K562	blood:	n/a
17	chr18:44526743-44526793	GM12891	blood:	n/a
18	chr18:44526756-44526806	Jurkat	blood:	n/a
19	chr18:44526743-44526793	Caco-2	colon:	n/a
20	chr18:44526756-44526806	Hepatocyte	liver:	n/a
21	chr18:44526743-44526793	CMK	blood:	n/a
22	chr18:44526743-44526793	AoSMC	blood vessel:	n/a
23	chr18:44526756-44526806	ovcar-3	ovarian:	n/a
24	chr18:44526756-44526806	AG09319	gingival:	n/a
25	chr18:44526743-44526793	MCF10A-Er-Src	breast:	n/a
26	chr18:44526743-44526793	HCM	heart:	n/a
27	chr18:44526743-44526793	HAEpiC	amniotic membrane:	n/a
28	chr18:44526756-44526806	HCPEpiC	choroid plexus:	n/a
29	chr18:44526743-44526793	U87	brain:	n/a
30	chr18:44526756-44526806	Caco-2	colon:	n/a
31	chr18:44526756-44526806	BE2_C	brain:	n/a
32	chr18:44526756-44526806	HCF	heart:	n/a
33	chr18:44526743-44526793	AG09319	gingival:	n/a
34	chr18:44526743-44526793	Hela-S3	cervix:	n/a
35	chr18:44526756-44526806	SK-N-MC	brain:	n/a
36	chr18:44526743-44526793	GM19239	blood:	n/a
37	chr18:44526756-44526806	SK-N-SH_RA	brain:	n/a
38	chr18:44526756-44526806	HRPEpiC	eye:	n/a
39	chr18:44526743-44526793	T-47D	breast:	n/a
40	chr18:44526743-44526793	PrEC	prostate:	n/a
41	chr18:44526756-44526806	BJ	skin:	n/a
42	chr18:44526756-44526806	LNCaP	prostate:	n/a
43	chr18:44526743-44526793	PFSK-1	brain:	n/a
44	chr18:44526756-44526806	NT2-D1	testis:	n/a
45	chr18:44526743-44526793	GM06990	blood:	n/a
46	chr18:44526743-44526793	AG04450	lung:	fetal
47	chr18:44526743-44526793	Hepatocyte	liver:	n/a
48	chr18:44526743-44526793	HEEpiC	esophagus:	n/a
49	chr18:44526743-44526793	GM12892	blood:	n/a
50	chr18:44526743-44526793	BJ	skin:	n/a

Variant related genes	Relation type
KATNAL2	TF binding region
KATNAL2	CpG island

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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44520200-44526800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:44526000-44527600	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr18:44526200-44527200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:44526200-44527200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr18:44526200-44527200	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr18:44526200-44527200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr18:44526200-44527200	Active TSS	Liver	Liver
8	chr18:44526200-44527200	Active TSS	Brain Anterior Caudate	brain
9	chr18:44526200-44527200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr18:44526200-44527200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr18:44526200-44527200	Active TSS	Fetal Brain Female	brain
12	chr18:44526200-44527200	Active TSS	Fetal Heart	heart
13	chr18:44526200-44527200	Active TSS	GM12878-XiMat	blood
14	chr18:44526200-44527400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:44526200-44527400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr18:44526200-44527400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:44526200-44527400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr18:44526200-44527400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr18:44526200-44527400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr18:44526200-44527400	Active TSS	Brain Angular Gyrus	brain
21	chr18:44526200-44527400	Active TSS	Brain Cingulate Gyrus	brain
22	chr18:44526200-44527400	Active TSS	Brain Hippocampus Middle	brain
23	chr18:44526200-44527400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr18:44526200-44527400	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr18:44526200-44527400	Active TSS	Rectal Smooth Muscle	rectum
26	chr18:44526200-44527600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr18:44526200-44527600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:44526200-44527600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr18:44526200-44527600	Active TSS	Fetal Kidney	kidney
30	chr18:44526200-44527600	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr18:44526400-44526800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:44526400-44526800	Active TSS	Fetal Muscle Trunk	muscle
33	chr18:44526400-44526800	Flanking Active TSS	Fetal Thymus	thymus
34	chr18:44526400-44526800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr18:44526400-44527000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr18:44526400-44527000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr18:44526400-44527000	Active TSS	Right Atrium	heart
38	chr18:44526400-44527000	Active TSS	Right Ventricle	heart
39	chr18:44526400-44527000	Active TSS	Thymus	Thymus
40	chr18:44526400-44527200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr18:44526400-44527200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:44526400-44527200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr18:44526400-44527200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr18:44526400-44527200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr18:44526400-44527200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:44526400-44527200	Active TSS	Colon Smooth Muscle	Colon
47	chr18:44526400-44527200	Active TSS	Stomach Mucosa	stomach
48	chr18:44526400-44527400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr18:44526400-44527400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:44526400-44527400	Active TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links