Variant report

Variant	rs55834028
Chromosome Location	chr1:47911829-47911830
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47910388..47913374-chr1:47915734..47917364,2	K562	blood:
2	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:
3	chr1:47909602..47912152-chr1:48180599..48183294,2	K562	blood:
4	chr1:47909602..47912589-chr1:48194233..48196789,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11590933	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12239450	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17103227	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17103249	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17103260	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2279277	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3738316	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55806846	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56011601	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56235005	0.93[ASN][1000 genomes]
rs59586402	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61412699	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6695969	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72686267	0.85[ASN][1000 genomes]
rs72686279	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72686288	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47907600-47918400	Weak transcription	Aorta	Aorta
2	chr1:47909000-47912000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:47910800-47912000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr1:47910800-47912200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
5	chr1:47910800-47912200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr1:47910800-47912400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:47910800-47912600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:47910800-47912600	Weak transcription	Right Atrium	heart
9	chr1:47911000-47912000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:47911000-47912200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr1:47911000-47912200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:47911200-47912000	Enhancers	Pancreas	Pancrea
13	chr1:47911200-47912800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr1:47911400-47912200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr1:47911600-47912000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
16	chr1:47911600-47912000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
17	chr1:47911800-47912000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr1:47911800-47912000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr1:47911800-47912000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr1:47911800-47912000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:47911800-47912000	Bivalent Enhancer	Colonic Mucosa	Colon
22	chr1:47911800-47912000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
23	chr1:47911800-47912200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr1:47911800-47912400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:47911800-47913000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell

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