Variant report

Variant	rs546949966
Chromosome Location	chr10:50818318-50818319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr10:50818288-50818355	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr10:50817083-50818611	ECC-1	luminal epithelium:	n/a	chr10:50818006-50818015 chr10:50818032-50818041
3	ZBTB7A	chr10:50817093-50818703	ECC-1	luminal epithelium:	n/a	chr10:50818006-50818015 chr10:50818032-50818041
4	MAX	chr10:50818300-50818978	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:50818299-50818349	Hela-S3	cervix:	n/a
2	chr10:50818299-50818349	RPTEC	kidney:	n/a
3	chr10:50818299-50818349	AG09309	skin:	n/a
4	chr10:50818299-50818349	Caco-2	colon:	n/a
5	chr10:50818299-50818349	AG10803	skin:	n/a
6	chr10:50818299-50818349	HCT-116	colon:	n/a
7	chr10:50818299-50818349	NHBE	bronchial:	n/a
8	chr10:50818299-50818349	HEK293	kidney:	embryo
9	chr10:50818299-50818349	HCF	heart:	n/a
10	chr10:50818299-50818349	HCPEpiC	choroid plexus:	n/a
11	chr10:50818299-50818349	GM12878	blood:	n/a
12	chr10:50818299-50818349	HRCEpiC	kidney:	n/a
13	chr10:50818299-50818349	GM12891	blood:	n/a
14	chr10:50818299-50818349	AG04450	lung:	fetal
15	chr10:50818299-50818349	LNCaP	prostate:	n/a
16	chr10:50818299-50818349	SKMC	muscle:	n/a
17	chr10:50818299-50818349	SAEC	small airway:	n/a
18	chr10:50818299-50818349	NHDF-neo	bronchial:	n/a
19	chr10:50818299-50818349	PFSK-1	brain:	n/a
20	chr10:50818299-50818349	HRE	kidney:	n/a
21	chr10:50818299-50818349	GM12892	blood:	n/a
22	chr10:50818299-50818349	A549	lung:	n/a
23	chr10:50818299-50818349	HUVEC	blood vessel:	n/a
24	chr10:50818299-50818349	HEEpiC	esophagus:	n/a
25	chr10:50818299-50818349	IMR90	lung:	fetal
26	chr10:50818299-50818349	PrEC	prostate:	n/a
27	chr10:50818299-50818349	MCF10A-Er-Src	breast:	n/a
28	chr10:50818299-50818349	HCM	heart:	n/a
29	chr10:50818299-50818349	H1-hESC	embryonic stem cell:	embryo
30	chr10:50818299-50818349	T-47D	breast:	n/a
31	chr10:50818299-50818349	ovcar-3	ovarian:	n/a
32	chr10:50818299-50818349	HMEC	breast:	n/a
33	chr10:50818299-50818349	K562	blood:	n/a
34	chr10:50818299-50818349	ECC-1	luminal epithelium:	n/a
35	chr10:50818299-50818349	BJ	skin:	n/a
36	chr10:50818299-50818349	CMK	blood:	n/a
37	chr10:50818299-50818349	AG04449	skin:	fetal
38	chr10:50818299-50818349	NH-A	brain:	n/a
39	chr10:50818299-50818349	GM19239	blood:	n/a
40	chr10:50818299-50818349	HIPEpiC	eye:	n/a
41	chr10:50818299-50818349	SK-N-MC	brain:	n/a
42	chr10:50818299-50818349	BE2_C	brain:	n/a
43	chr10:50818299-50818349	NB4	blood:	n/a
44	chr10:50818299-50818349	SK-N-SH_RA	brain:	n/a
45	chr10:50818299-50818349	GM06990	blood:	n/a
46	chr10:50818299-50818349	AoSMC	blood vessel:	n/a
47	chr10:50818299-50818349	HL-60	blood:	n/a
48	chr10:50818299-50818349	Hepatocyte	liver:	n/a
49	chr10:50818299-50818349	HepG2	liver:	n/a
50	chr10:50818299-50818349	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50817979..50819560-chr10:50821869..50824788,2	K562	blood:
2	chr10:50817275..50819669-chr10:50821869..50826020,4	K562	blood:

No data

Variant related genes	Relation type
CHAT	TF binding region
SLC18A3	TF binding region
SLC18A3	CpG island
CHAT	CpG island
ENSG00000070748	Chromatin interaction

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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1037405	chr10:50800817-50940545	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv895378	chr10:50801342-50955649	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv550819	chr10:50815512-50835264	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3410105	chr10:50816971-50819819	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3518245	chr10:50817146-50821244	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3518246	chr10:50817146-50821244	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50816600-50820000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr10:50816600-50820000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr10:50816800-50819400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:50816800-50819800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr10:50817000-50818400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
6	chr10:50817000-50819000	Bivalent Enhancer	Spleen	Spleen
7	chr10:50817000-50819400	Enhancers	Gastric	stomach
8	chr10:50817200-50818800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:50817200-50820000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr10:50817400-50818600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:50817400-50818800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr10:50817400-50819000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr10:50817400-50819000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr10:50817400-50819600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
15	chr10:50817600-50818400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:50817600-50818400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr10:50817600-50818400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr10:50817600-50818600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:50817600-50818600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:50817600-50818800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:50817600-50819400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:50817800-50818400	Enhancers	Primary hematopoietic stem cells	blood
23	chr10:50817800-50818400	Bivalent Enhancer	Ovary	ovary
24	chr10:50817800-50818600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:50817800-50818600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
26	chr10:50817800-50818800	Bivalent/Poised TSS	HSMM	muscle
27	chr10:50817800-50819200	Enhancers	Liver	Liver
28	chr10:50817800-50820400	Bivalent Enhancer	Lung	lung
29	chr10:50817800-50822200	Enhancers	Pancreas	Pancrea
30	chr10:50818000-50818400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:50818000-50818400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:50818000-50818400	Active TSS	Placenta Amnion	Placenta Amnion
33	chr10:50818000-50818400	Bivalent Enhancer	HMEC	breast
34	chr10:50818000-50818600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:50818000-50818600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr10:50818000-50818600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:50818000-50818600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:50818000-50818600	Active TSS	Right Atrium	heart
39	chr10:50818000-50819000	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr10:50818000-50820000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:50818000-50820400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr10:50818200-50818400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr10:50818200-50818400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
44	chr10:50818200-50818600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:50818200-50818600	Bivalent/Poised TSS	Psoas Muscle	Psoas
46	chr10:50818200-50819600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
47	chr10:50818200-50819800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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