Variant report

Variant	rs1835969
Chromosome Location	chr5:147286741-147286742
allele	G/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:0)
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	chr5:147286717-147286767	HAEpiC	amniotic membrane:	n/a
2	chr5:147286717-147286767	HCM	heart:	n/a
3	chr5:147286719-147286769	GM12891	blood:	n/a
4	chr5:147286717-147286767	ECC-1	luminal epithelium:	n/a
5	chr5:147286717-147286767	HRE	kidney:	n/a
6	chr5:147286717-147286767	Caco-2	colon:	n/a
7	chr5:147286719-147286769	HCF	heart:	n/a
8	chr5:147286717-147286767	MCF-7	breast:	n/a
9	chr5:147286717-147286767	HRPEpiC	eye:	n/a
10	chr5:147286719-147286769	GM06990	blood:	n/a
11	chr5:147286719-147286769	AG04450	lung:	fetal
12	chr5:147286717-147286767	Hepatocyte	liver:	n/a
13	chr5:147286717-147286767	GM12892	blood:	n/a
14	chr5:147286719-147286769	GM19239	blood:	n/a
15	chr5:147286717-147286767	HIPEpiC	eye:	n/a
16	chr5:147286717-147286767	SAEC	small airway:	n/a
17	chr5:147286717-147286767	NHDF-neo	bronchial:	n/a
18	chr5:147286719-147286769	RPTEC	kidney:	n/a
19	chr5:147286717-147286767	PFSK-1	brain:	n/a
20	chr5:147286717-147286767	AG04450	lung:	fetal
21	chr5:147286719-147286769	PrEC	prostate:	n/a
22	chr5:147286719-147286769	AG10803	skin:	n/a
23	chr5:147286717-147286767	SK-N-MC	brain:	n/a
24	chr5:147286717-147286767	NH-A	brain:	n/a
25	chr5:147286719-147286769	Hela-S3	cervix:	n/a
26	chr5:147286719-147286769	CMK	blood:	n/a
27	chr5:147286719-147286769	Hepatocyte	liver:	n/a
28	chr5:147286717-147286767	HNPCEpiC	eye:	n/a
29	chr5:147286719-147286769	NT2-D1	testis:	n/a
30	chr5:147286717-147286767	T-47D	breast:	n/a
31	chr5:147286717-147286767	SK-N-SH	brain:	n/a
32	chr5:147286717-147286767	AG04449	skin:	fetal
33	chr5:147286719-147286769	HCPEpiC	choroid plexus:	n/a
34	chr5:147286719-147286769	HRE	kidney:	n/a
35	chr5:147286717-147286767	K562	blood:	n/a
36	chr5:147286717-147286767	NB4	blood:	n/a
37	chr5:147286717-147286767	HRCEpiC	kidney:	n/a
38	chr5:147286719-147286769	HEK293	kidney:	embryo
39	chr5:147286717-147286767	Hela-S3	cervix:	n/a
40	chr5:147286719-147286769	NHDF-neo	bronchial:	n/a
41	chr5:147286719-147286769	ECC-1	luminal epithelium:	n/a
42	chr5:147286717-147286767	GM12891	blood:	n/a
43	chr5:147286719-147286769	BJ	skin:	n/a
44	chr5:147286719-147286769	HPAEpiC	pulmonary alveolar:	n/a
45	chr5:147286717-147286767	H1-hESC	embryonic stem cell:	embryo
46	chr5:147286717-147286767	HL-60	blood:	n/a
47	chr5:147286719-147286769	NHBE	bronchial:	n/a
48	chr5:147286719-147286769	NH-A	brain:	n/a
49	chr5:147286717-147286767	CMK	blood:	n/a
50	chr5:147286719-147286769	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
C5orf46	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1432973	0.90[ASN][1000 genomes]
rs1432974	0.91[ASN][1000 genomes]
rs17107421	0.89[ASN][1000 genomes]
rs1835970	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6580506	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6859879	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73263278	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7706789	0.93[ASN][1000 genomes]
rs7722416	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7722926	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr5:147273400-147289000	Weak transcription	Left Ventricle	heart
2	chr5:147283400-147286800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:147283600-147286800	Enhancers	HMEC	breast
4	chr5:147284200-147291000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:147285000-147286800	Enhancers	Fetal Heart	heart
6	chr5:147285400-147286800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:147285600-147286800	Enhancers	Hela-S3	cervix
8	chr5:147285800-147286800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:147285800-147286800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:147285800-147286800	Enhancers	Placenta	Placenta
11	chr5:147286000-147286800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:147286000-147286800	Enhancers	Pancreas	Pancrea
13	chr5:147286400-147286800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:147286600-147286800	Enhancers	NHEK	skin
15	chr5:147286600-147287800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:147286600-147289400	Weak transcription	Gastric	stomach
17	chr5:147286600-147291800	Weak transcription	Aorta	Aorta

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