Variant report

Variant	rs73424282
Chromosome Location	chr15:45996696-45996697
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45996635-45997010	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr15:45996679-45997065	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr15:45996380-45997154	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr15:45996123-45997193	H1-hESC	embryonic stem cell:	n/a	chr15:45996441-45996450
5	CTCF	chr15:45996580-45996730	HUVEC	blood vessel:	n/a	n/a
6	TCF7L2	chr15:45996503-45997038	PANC-1	pancreas:	n/a	n/a
7	ZNF143	chr15:45996082-45997025	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr15:45996515-45997189	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr15:45996489-45997118	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr15:45996546-45997183	PANC-1	pancreas:	n/a	n/a
11	MAX	chr15:45995911-45997033	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr15:45995821-45997041	H1-hESC	embryonic stem cell:	n/a	chr15:45996532-45996540 chr15:45996529-45996541 chr15:45996533-45996540 chr15:45996525-45996539 chr15:45996532-45996540 chr15:45996533-45996540 chr15:45996533-45996540 chr15:45996530-45996545 chr15:45996531-45996541
13	POLR2A	chr15:45996462-45997088	U87	brain:	n/a	n/a
14	POLR2A	chr15:45996616-45997045	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr15:45996675-45997078	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr15:45996496-45997160	H1-hESC	embryonic stem cell:	n/a	n/a
17	ELF1	chr15:45996442-45996946	GM12878	blood:	n/a	n/a
18	MAX	chr15:45995811-45997022	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr15:45996641-45997064	H1-hESC	embryonic stem cell:	n/a	n/a
20	MXI1	chr15:45996124-45996857	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr15:45996620-45997148	U87	brain:	n/a	n/a
22	BACH1	chr15:45996429-45996843	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr15:45996160-45997083	H1-hESC	embryonic stem cell:	n/a	n/a
24	TBP	chr15:45996613-45997001	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr15:45995903-45996944	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTBP2	chr15:45996170-45997065	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr15:45996620-45997109	U87	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45996671-45996721	HRE	kidney:	n/a
2	chr15:45996671-45996721	SKMC	muscle:	n/a
3	chr15:45996671-45996721	GM12892	blood:	n/a
4	chr15:45996671-45996721	CMK	blood:	n/a
5	chr15:45996671-45996721	BJ	skin:	n/a
6	chr15:45996671-45996721	AG09319	gingival:	n/a
7	chr15:45996671-45996721	HCPEpiC	choroid plexus:	n/a
8	chr15:45996671-45996721	AG09309	skin:	n/a
9	chr15:45996671-45996721	GM06990	blood:	n/a
10	chr15:45996671-45996721	HNPCEpiC	eye:	n/a
11	chr15:45996671-45996721	SK-N-MC	brain:	n/a
12	chr15:45996671-45996721	HUVEC	blood vessel:	n/a
13	chr15:45996671-45996721	GM19239	blood:	n/a
14	chr15:45996671-45996721	PrEC	prostate:	n/a
15	chr15:45996671-45996721	SK-N-SH	brain:	n/a
16	chr15:45996671-45996721	HCM	heart:	n/a
17	chr15:45996671-45996721	HPAEpiC	pulmonary alveolar:	n/a
18	chr15:45996671-45996721	HAEpiC	amniotic membrane:	n/a
19	chr15:45996671-45996721	RPTEC	kidney:	n/a
20	chr15:45996671-45996721	HMEC	breast:	n/a
21	chr15:45996671-45996721	HL-60	blood:	n/a
22	chr15:45996671-45996721	PANC-1	pancreas:	n/a
23	chr15:45996671-45996721	HepG2	liver:	n/a
24	chr15:45996671-45996721	AG10803	skin:	n/a
25	chr15:45996671-45996721	HCT-116	colon:	n/a
26	chr15:45996671-45996721	SAEC	small airway:	n/a
27	chr15:45996671-45996721	HCF	heart:	n/a
28	chr15:45996671-45996721	ProgFib	skin:	n/a
29	chr15:45996671-45996721	MCF-7	breast:	n/a
30	chr15:45996671-45996721	Hepatocyte	liver:	n/a
31	chr15:45996671-45996721	H1-hESC	embryonic stem cell:	embryo
32	chr15:45996671-45996721	AG04449	skin:	fetal
33	chr15:45996671-45996721	Hela-S3	cervix:	n/a
34	chr15:45996671-45996721	Caco-2	colon:	n/a
35	chr15:45996671-45996721	AoSMC	blood vessel:	n/a
36	chr15:45996671-45996721	ovcar-3	ovarian:	n/a
37	chr15:45996671-45996721	HEK293	kidney:	embryo
38	chr15:45996671-45996721	ECC-1	luminal epithelium:	n/a
39	chr15:45996671-45996721	HRPEpiC	eye:	n/a
40	chr15:45996671-45996721	NH-A	brain:	n/a
41	chr15:45996671-45996721	K562	blood:	n/a
42	chr15:45996671-45996721	PFSK-1	brain:	n/a
43	chr15:45996671-45996721	NT2-D1	testis:	n/a
44	chr15:45996671-45996721	NB4	blood:	n/a
45	chr15:45996671-45996721	T-47D	breast:	n/a
46	chr15:45996671-45996721	HEEpiC	esophagus:	n/a
47	chr15:45996671-45996721	NHBE	bronchial:	n/a
48	chr15:45996671-45996721	GM12891	blood:	n/a
49	chr15:45996671-45996721	U87	brain:	n/a
50	chr15:45996671-45996721	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000259200	TF binding region
ENSG00000259200	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11637483	0.82[EUR][1000 genomes]
rs11638737	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16946942	0.80[EUR][1000 genomes]
rs28876107	0.82[EUR][1000 genomes]
rs60336912	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73424268	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73424278	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9989346	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904189	chr15:45821158-46298458	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv904191	chr15:45902779-46381874	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv523136	chr15:45990780-46158407	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45983400-45996800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:45985400-45996800	Weak transcription	HMEC	breast
3	chr15:45996000-45996800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
4	chr15:45996000-45997800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr15:45996000-45998000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr15:45996000-45998000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:45996000-45998200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr15:45996200-45996800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:45996200-45996800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr15:45996200-45996800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:45996200-45996800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr15:45996200-45996800	Enhancers	Gastric	stomach
13	chr15:45996200-45997200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:45996200-45997200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:45996200-45997800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:45996200-45998200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr15:45996200-45998200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr15:45996200-45998200	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr15:45996200-45998200	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr15:45996400-45996800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:45996400-45996800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr15:45996400-45996800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:45996400-45996800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
24	chr15:45996400-45996800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:45996400-45996800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
26	chr15:45996400-45996800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
27	chr15:45996400-45996800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:45996400-45996800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
29	chr15:45996400-45996800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
30	chr15:45996400-45996800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr15:45996400-45997000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:45996400-45997000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
33	chr15:45996400-45997000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
34	chr15:45996400-45997000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:45996400-45997000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr15:45996400-45997000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr15:45996400-45997000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr15:45996400-45997000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr15:45996400-45997000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
40	chr15:45996400-45997000	Flanking Active TSS	Ovary	ovary
41	chr15:45996400-45997000	Flanking Active TSS	Right Ventricle	heart
42	chr15:45996400-45997000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
43	chr15:45996400-45997000	Enhancers	Spleen	Spleen
44	chr15:45996400-45997200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr15:45996400-45997200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr15:45996400-45997200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:45996400-45997200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:45996400-45997200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr15:45996400-45997200	Bivalent/Poised TSS	Fetal Kidney	kidney
50	chr15:45996400-45997200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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