Variant report

Variant	rs11948223
Chromosome Location	chr5:118762321-118762322
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118760077..118762768-chr5:118762980..118764985,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10042168	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs10045066	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs10051019	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10069875	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs10072515	1.00[AMR][1000 genomes]
rs10073818	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10078097	0.82[CHB][hapmap];0.96[JPT][hapmap]
rs10214151	1.00[AMR][1000 genomes]
rs10478426	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs11241506	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs11951264	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653056	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12653702	0.82[CHB][hapmap]
rs12656474	0.91[CHB][hapmap];0.81[JPT][hapmap];1.00[AMR][1000 genomes]
rs12657181	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12658566	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs13361193	0.82[CHB][hapmap];0.96[JPT][hapmap]
rs2075698	0.82[CHB][hapmap];0.96[JPT][hapmap]
rs2287712	0.82[CHB][hapmap];0.92[JPT][hapmap]
rs2303003	0.82[CHB][hapmap];0.96[JPT][hapmap]
rs257972	0.81[JPT][hapmap]
rs3756512	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs3797363	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs3797364	0.95[JPT][hapmap]
rs3797367	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs3822525	0.96[JPT][hapmap]
rs3850200	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs57961136	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58359191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59644927	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61553637	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6875595	0.83[CHB][hapmap]
rs6876193	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6894991	0.82[CHB][hapmap];0.96[JPT][hapmap]
rs6895345	0.82[CHB][hapmap];0.96[JPT][hapmap]
rs73244920	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7709833	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7721314	1.00[AMR][1000 genomes]
rs7721602	0.82[CHB][hapmap]

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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv965533	chr5:118738884-118762384	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118753800-118762800	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:118756800-118762400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:118756800-118762800	Weak transcription	Placenta	Placenta
4	chr5:118761400-118763200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr5:118761400-118765000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:118761600-118762600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:118761600-118764000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:118761800-118763400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:118761800-118764400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:118761800-118764600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:118761800-118764800	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:118762000-118763800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:118762000-118764200	Enhancers	Primary B cells from cord blood	blood
14	chr5:118762200-118762600	Weak transcription	Adipose Nuclei	Adipose
15	chr5:118762200-118762600	Enhancers	Stomach Mucosa	stomach
16	chr5:118762200-118764600	Enhancers	K562	blood

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