Variant report

Variant	rs4815272
Chromosome Location	chr20:24448895-24448896
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:24448859-24448909	NHBE	bronchial:	n/a
2	chr20:24448859-24448909	HMEC	breast:	n/a
3	chr20:24448859-24448909	PrEC	prostate:	n/a
4	chr20:24448859-24448909	HPAEpiC	pulmonary alveolar:	n/a
5	chr20:24448859-24448909	SAEC	small airway:	n/a
6	chr20:24448859-24448909	LNCaP	prostate:	n/a
7	chr20:24448859-24448909	HCF	heart:	n/a
8	chr20:24448859-24448909	Jurkat	blood:	n/a
9	chr20:24448859-24448909	RPTEC	kidney:	n/a
10	chr20:24448859-24448909	SK-N-SH_RA	brain:	n/a
11	chr20:24448859-24448909	AG09319	gingival:	n/a
12	chr20:24448859-24448909	A549	lung:	n/a
13	chr20:24448859-24448909	PFSK-1	brain:	n/a
14	chr20:24448859-24448909	AG10803	skin:	n/a
15	chr20:24448859-24448909	H1-hESC	embryonic stem cell:	embryo
16	chr20:24448859-24448909	ECC-1	luminal epithelium:	n/a
17	chr20:24448859-24448909	HUVEC	blood vessel:	n/a
18	chr20:24448859-24448909	GM19239	blood:	n/a
19	chr20:24448859-24448909	HIPEpiC	eye:	n/a
20	chr20:24448859-24448909	K562	blood:	n/a
21	chr20:24448859-24448909	HRPEpiC	eye:	n/a
22	chr20:24448859-24448909	AG04450	lung:	fetal
23	chr20:24448859-24448909	NT2-D1	testis:	n/a
24	chr20:24448859-24448909	HL-60	blood:	n/a
25	chr20:24448859-24448909	Hepatocyte	liver:	n/a
26	chr20:24448859-24448909	ProgFib	skin:	n/a
27	chr20:24448859-24448909	Caco-2	colon:	n/a
28	chr20:24448859-24448909	HepG2	liver:	n/a
29	chr20:24448859-24448909	SKMC	muscle:	n/a
30	chr20:24448859-24448909	HCT-116	colon:	n/a
31	chr20:24448859-24448909	GM12892	blood:	n/a
32	chr20:24448859-24448909	NHDF-neo	bronchial:	n/a
33	chr20:24448859-24448909	GM06990	blood:	n/a
34	chr20:24448859-24448909	HCM	heart:	n/a
35	chr20:24448859-24448909	NB4	blood:	n/a
36	chr20:24448859-24448909	NH-A	brain:	n/a
37	chr20:24448859-24448909	HEEpiC	esophagus:	n/a
38	chr20:24448859-24448909	AG09309	skin:	n/a
39	chr20:24448859-24448909	HRCEpiC	kidney:	n/a
40	chr20:24448859-24448909	T-47D	breast:	n/a
41	chr20:24448859-24448909	BJ	skin:	n/a
42	chr20:24448859-24448909	AoSMC	blood vessel:	n/a
43	chr20:24448859-24448909	BE2_C	brain:	n/a
44	chr20:24448859-24448909	SK-N-SH	brain:	n/a
45	chr20:24448859-24448909	PANC-1	pancreas:	n/a
46	chr20:24448859-24448909	GM12878	blood:	n/a
47	chr20:24448859-24448909	GM12891	blood:	n/a
48	chr20:24448859-24448909	U87	brain:	n/a
49	chr20:24448859-24448909	HEK293	kidney:	embryo
50	chr20:24448859-24448909	CMK	blood:	n/a

No data

Variant related genes	Relation type
SYNDIG1	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1326303	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16986641	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57281014	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6114734	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61548213	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv833946	chr20:24320375-24490702	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24439600-24449200	Weak transcription	Gastric	stomach
2	chr20:24439800-24449800	Weak transcription	Right Atrium	heart
3	chr20:24444400-24449400	Weak transcription	Right Ventricle	heart
4	chr20:24446000-24449800	Weak transcription	Aorta	Aorta
5	chr20:24446600-24449000	Weak transcription	Fetal Brain Female	brain
6	chr20:24447000-24449200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr20:24447000-24449400	Weak transcription	Fetal Brain Male	brain
8	chr20:24447000-24449600	Weak transcription	Left Ventricle	heart
9	chr20:24447200-24449400	Weak transcription	Brain Angular Gyrus	brain
10	chr20:24447400-24449000	Weak transcription	Brain Anterior Caudate	brain
11	chr20:24447400-24449000	Weak transcription	Brain Hippocampus Middle	brain
12	chr20:24447400-24449400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr20:24447400-24449600	Weak transcription	Brain Substantia Nigra	brain
14	chr20:24447600-24449000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr20:24448000-24449000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr20:24448000-24450000	Bivalent Enhancer	Fetal Thymus	thymus
17	chr20:24448200-24449400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr20:24448400-24449000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr20:24448600-24449000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr20:24448600-24449400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr20:24448600-24449400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr20:24448600-24449600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr20:24448600-24449600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr20:24448800-24449000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
25	chr20:24448800-24449000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr20:24448800-24449000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
27	chr20:24448800-24449000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
28	chr20:24448800-24449000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr20:24448800-24449200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr20:24448800-24449200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr20:24448800-24449400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr20:24448800-24449600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr20:24448800-24449600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links