Variant report

Variant	rs55737954
Chromosome Location	chr1:113953536-113953537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113953158..113955943-chr1:113961137..113963670,3	MCF-7	breast:
2	chr1:113950704..113953604-chr1:113960173..113962472,2	K562	blood:
3	chr1:113942048..113944854-chr1:113951173..113953627,2	MCF-7	breast:
4	chr1:113931119..113932828-chr1:113952487..113954122,2	K562	blood:
5	chr1:113943430..113947212-chr1:113950458..113953796,3	K562	blood:
6	chr1:113951738..113953995-chr1:113957531..113959825,2	K562	blood:
7	chr1:113930034..113933840-chr1:113951963..113955483,3	K562	blood:
8	chr1:113933807..113936098-chr1:113952388..113954783,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10458458	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10458459	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10857994	0.84[ASN][1000 genomes]
rs11102627	0.93[ASN][1000 genomes]
rs11102628	0.93[ASN][1000 genomes]
rs11102630	0.93[ASN][1000 genomes]
rs11102636	0.80[EUR][1000 genomes]
rs11102637	0.80[EUR][1000 genomes]
rs11102638	0.80[EUR][1000 genomes]
rs11102640	0.80[EUR][1000 genomes]
rs11102641	0.80[EUR][1000 genomes]
rs11102644	0.80[EUR][1000 genomes]
rs1112085	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112543	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12021783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022213	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12022849	1.00[AFR][1000 genomes]
rs12023641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024139	1.00[AFR][1000 genomes]
rs12024428	0.99[ASN][1000 genomes]
rs12025806	0.80[EUR][1000 genomes]
rs12026005	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12026682	1.00[AFR][1000 genomes]
rs12029305	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12030900	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12032395	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12033666	0.80[EUR][1000 genomes]
rs12034178	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12038473	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12038754	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12038879	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12039226	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12039603	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12039669	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12039944	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12043827	0.87[AFR][1000 genomes]
rs12044485	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12045148	1.00[AFR][1000 genomes]
rs12046450	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12046451	1.00[AFR][1000 genomes]
rs12048327	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12049093	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12049447	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12567622	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12568854	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1418607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1539411	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573996	1.00[AFR][1000 genomes]
rs1936926	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1936927	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1936928	0.80[EUR][1000 genomes]
rs2027536	0.97[ASN][1000 genomes]
rs2027537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359413	1.00[AFR][1000 genomes]
rs2884705	1.00[AFR][1000 genomes]
rs4838987	0.82[AMR][1000 genomes]
rs4839320	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66565865	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6688827	0.99[ASN][1000 genomes]
rs72687924	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72687938	0.80[EUR][1000 genomes]
rs72687939	0.80[EUR][1000 genomes]
rs72687944	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72687947	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72687948	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72687949	0.80[EUR][1000 genomes]
rs72687961	1.00[AFR][1000 genomes]
rs7413018	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9787276	0.99[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	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1010110	chr1:113856612-113969417	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv1014757	chr1:113861524-113969417	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113937600-113963400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:113940200-113987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:113944600-113958200	Weak transcription	Small Intestine	intestine
4	chr1:113948000-113969800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:113949800-113972200	Weak transcription	Aorta	Aorta
6	chr1:113951200-113962200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:113952200-113954000	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:113952600-113955400	Weak transcription	Fetal Stomach	stomach
9	chr1:113953400-113953800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:113953400-113953800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr1:113953400-113954000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:113953400-113954000	Enhancers	Liver	Liver
13	chr1:113953400-113954000	Active TSS	NHDF-Ad	bronchial
14	chr1:113953400-113954200	Enhancers	NHLF	lung
15	chr1:113953400-113957800	Weak transcription	Colon Smooth Muscle	Colon

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