Variant report

Variant	rs1797401
Chromosome Location	chr12:66581662-66581663
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66561525..66563608-chr12:66580703..66583177,2	K562	blood:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10506476	1.00[AMR][1000 genomes]
rs10506477	1.00[AMR][1000 genomes]
rs1058981	1.00[AMR][1000 genomes]
rs1152884	0.84[AFR][1000 genomes]
rs1152910	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1168738	1.00[AMR][1000 genomes]
rs1168740	1.00[AMR][1000 genomes]
rs1168741	1.00[AMR][1000 genomes]
rs1168746	1.00[AMR][1000 genomes]
rs1168756	1.00[AMR][1000 genomes]
rs1168758	0.95[AFR][1000 genomes]
rs1168764	1.00[AMR][1000 genomes]
rs1168767	1.00[AMR][1000 genomes]
rs1168772	0.95[AFR][1000 genomes]
rs1168773	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1179916	1.00[AMR][1000 genomes]
rs12099497	1.00[AMR][1000 genomes]
rs1617632	1.00[AMR][1000 genomes]
rs17102109	1.00[AMR][1000 genomes]
rs17102115	0.90[AMR][1000 genomes]
rs1732875	0.96[AFR][1000 genomes]
rs1797400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1946750	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv541516	chr12:66547969-66596036	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv899215	chr12:66556960-66594134	Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	n/a
6	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66579600-66582400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:66580600-66582400	Enhancers	Primary B cells from cord blood	blood
3	chr12:66580600-66583000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr12:66580800-66582200	Enhancers	Primary hematopoietic stem cells	blood
5	chr12:66580800-66582200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:66581000-66582400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:66581400-66582400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:66581400-66582600	Weak transcription	Right Atrium	heart
9	chr12:66581400-66582600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:66581600-66581800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
11	chr12:66581600-66583000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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