Variant report

Variant	rs1023769
Chromosome Location	chr8:49823157-49823158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:49823140-49823190	HRE	kidney:	n/a
2	chr8:49823155-49823205	CMK	blood:	n/a
3	chr8:49823155-49823205	IMR90	lung:	fetal
4	chr8:49823155-49823205	ECC-1	luminal epithelium:	n/a
5	chr8:49823155-49823205	SK-N-SH_RA	brain:	n/a
6	chr8:49823155-49823205	SAEC	small airway:	n/a
7	chr8:49823140-49823190	Hepatocyte	liver:	n/a
8	chr8:49823140-49823190	SK-N-SH	brain:	n/a
9	chr8:49823155-49823205	HRPEpiC	eye:	n/a
10	chr8:49823155-49823205	BE2_C	brain:	n/a
11	chr8:49823140-49823190	U87	brain:	n/a
12	chr8:49823155-49823205	BJ	skin:	n/a
13	chr8:49823155-49823205	T-47D	breast:	n/a
14	chr8:49823140-49823190	ECC-1	luminal epithelium:	n/a
15	chr8:49823140-49823190	T-47D	breast:	n/a
16	chr8:49823155-49823205	GM12892	blood:	n/a
17	chr8:49823155-49823205	HCF	heart:	n/a
18	chr8:49823140-49823190	PFSK-1	brain:	n/a
19	chr8:49823155-49823205	NT2-D1	testis:	n/a
20	chr8:49823155-49823205	HNPCEpiC	eye:	n/a
21	chr8:49823155-49823205	AG10803	skin:	n/a
22	chr8:49823155-49823205	NB4	blood:	n/a
23	chr8:49823155-49823205	AG09309	skin:	n/a
24	chr8:49823140-49823190	HepG2	liver:	n/a
25	chr8:49823155-49823205	GM19239	blood:	n/a
26	chr8:49823155-49823205	K562	blood:	n/a
27	chr8:49823155-49823205	AoSMC	blood vessel:	n/a
28	chr8:49823140-49823190	CMK	blood:	n/a
29	chr8:49823140-49823190	MCF10A-Er-Src	breast:	n/a
30	chr8:49823155-49823205	HEK293	kidney:	embryo
31	chr8:49823140-49823190	Caco-2	colon:	n/a
32	chr8:49823140-49823190	AoSMC	blood vessel:	n/a
33	chr8:49823155-49823205	SK-N-MC	brain:	n/a
34	chr8:49823140-49823190	HUVEC	blood vessel:	n/a
35	chr8:49823140-49823190	HEK293	kidney:	embryo
36	chr8:49823140-49823190	NHDF-neo	bronchial:	n/a
37	chr8:49823140-49823190	HAEpiC	amniotic membrane:	n/a
38	chr8:49823155-49823205	HIPEpiC	eye:	n/a
39	chr8:49823155-49823205	NHBE	bronchial:	n/a
40	chr8:49823140-49823190	HRPEpiC	eye:	n/a
41	chr8:49823155-49823205	HPAEpiC	pulmonary alveolar:	n/a
42	chr8:49823155-49823205	HAEpiC	amniotic membrane:	n/a
43	chr8:49823155-49823205	GM12878	blood:	n/a
44	chr8:49823140-49823190	BJ	skin:	n/a
45	chr8:49823140-49823190	SK-N-SH_RA	brain:	n/a
46	chr8:49823140-49823190	HCM	heart:	n/a
47	chr8:49823140-49823190	HPAEpiC	pulmonary alveolar:	n/a
48	chr8:49823140-49823190	HCPEpiC	choroid plexus:	n/a
49	chr8:49823155-49823205	Hepatocyte	liver:	n/a
50	chr8:49823155-49823205	AG04449	skin:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf22-8	chr8:49823039-49823221	NONHSAT126498

No data

Variant related genes	Relation type
ENSG00000233109	CpG island

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1441003	0.81[EUR][1000 genomes]
rs1561656	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2735455	1.00[CEU][hapmap]
rs4873290	0.93[JPT][hapmap]
rs55868933	0.84[EUR][1000 genomes]
rs56409214	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7007780	0.94[JPT][hapmap]
rs894075	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs894076	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49816200-49830400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:49816400-49823400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:49816600-49823800	Weak transcription	Ovary	ovary
4	chr8:49817800-49832200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:49818200-49824600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:49818600-49824000	Weak transcription	NH-A	brain
7	chr8:49819200-49824600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:49819400-49824400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:49819800-49824000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:49820400-49829200	Weak transcription	NHDF-Ad	bronchial
11	chr8:49821200-49823800	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:49821200-49824000	Enhancers	Fetal Lung	lung
13	chr8:49822200-49825400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:49822600-49824000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:49822800-49824200	Weak transcription	Fetal Kidney	kidney
16	chr8:49823000-49823200	Enhancers	Lung	lung
17	chr8:49823000-49823600	Enhancers	Spleen	Spleen

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