Variant report

Variant	rs56193142
Chromosome Location	chr3:142608944-142608945
allele	A/G
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	chr3:142608898-142608948	K562	blood:	n/a
2	chr3:142608898-142608948	HAEpiC	amniotic membrane:	n/a
3	chr3:142608898-142608948	HRPEpiC	eye:	n/a
4	chr3:142608898-142608948	CMK	blood:	n/a
5	chr3:142608898-142608948	NT2-D1	testis:	n/a
6	chr3:142608898-142608948	HEK293	kidney:	embryo
7	chr3:142608898-142608948	HIPEpiC	eye:	n/a
8	chr3:142608898-142608948	H1-hESC	embryonic stem cell:	embryo
9	chr3:142608898-142608948	HCPEpiC	choroid plexus:	n/a
10	chr3:142608898-142608948	PANC-1	pancreas:	n/a
11	chr3:142608898-142608948	HPAEpiC	pulmonary alveolar:	n/a
12	chr3:142608898-142608948	AG10803	skin:	n/a
13	chr3:142608898-142608948	MCF-7	breast:	n/a
14	chr3:142608898-142608948	ovcar-3	ovarian:	n/a
15	chr3:142608898-142608948	HL-60	blood:	n/a
16	chr3:142608898-142608948	ProgFib	skin:	n/a
17	chr3:142608898-142608948	NHBE	bronchial:	n/a
18	chr3:142608898-142608948	GM06990	blood:	n/a
19	chr3:142608898-142608948	A549	lung:	n/a
20	chr3:142608898-142608948	SKMC	muscle:	n/a
21	chr3:142608898-142608948	HMEC	breast:	n/a
22	chr3:142608898-142608948	U87	brain:	n/a
23	chr3:142608898-142608948	Hepatocyte	liver:	n/a
24	chr3:142608898-142608948	ECC-1	luminal epithelium:	n/a
25	chr3:142608898-142608948	HRCEpiC	kidney:	n/a
26	chr3:142608898-142608948	BE2_C	brain:	n/a
27	chr3:142608898-142608948	PrEC	prostate:	n/a
28	chr3:142608898-142608948	SK-N-MC	brain:	n/a
29	chr3:142608898-142608948	IMR90	lung:	fetal
30	chr3:142608898-142608948	AG04449	skin:	fetal
31	chr3:142608898-142608948	AoSMC	blood vessel:	n/a
32	chr3:142608898-142608948	GM12892	blood:	n/a
33	chr3:142608898-142608948	RPTEC	kidney:	n/a
34	chr3:142608898-142608948	HEEpiC	esophagus:	n/a
35	chr3:142608898-142608948	SK-N-SH_RA	brain:	n/a
36	chr3:142608898-142608948	SK-N-SH	brain:	n/a
37	chr3:142608898-142608948	Hela-S3	cervix:	n/a
38	chr3:142608898-142608948	Caco-2	colon:	n/a
39	chr3:142608898-142608948	HRE	kidney:	n/a
40	chr3:142608898-142608948	PFSK-1	brain:	n/a
41	chr3:142608898-142608948	NHDF-neo	bronchial:	n/a
42	chr3:142608898-142608948	BJ	skin:	n/a
43	chr3:142608898-142608948	AG04450	lung:	fetal
44	chr3:142608898-142608948	HepG2	liver:	n/a
45	chr3:142608898-142608948	T-47D	breast:	n/a
46	chr3:142608898-142608948	AG09319	gingival:	n/a
47	chr3:142608898-142608948	HCF	heart:	n/a
48	chr3:142608898-142608948	GM12891	blood:	n/a
49	chr3:142608898-142608948	HUVEC	blood vessel:	n/a
50	chr3:142608898-142608948	NB4	blood:	n/a

No data

Variant related genes	Relation type
PCOLCE2	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56788897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73864495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73864499	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73864501	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73866205	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73866208	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73866209	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73866210	1.00[AMR][1000 genomes]
rs73866233	1.00[AMR][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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv437342	chr3:142605233-142622834	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv437343	chr3:142607487-142622834	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142606600-142609000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:142607000-142609200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:142607600-142609600	Active TSS	Osteobl	bone
4	chr3:142608200-142609200	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr3:142608200-142610600	Weak transcription	K562	blood
6	chr3:142608400-142615200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:142608600-142609200	Enhancers	Placenta	Placenta
8	chr3:142608600-142615200	Weak transcription	Hela-S3	cervix
9	chr3:142608600-142615400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:142608600-142617800	Weak transcription	Aorta	Aorta
11	chr3:142608800-142609600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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