Variant report

Variant	rs73950700
Chromosome Location	chr18:12921669-12921670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12919902..12923926-chr18:12926720..12928745,3	K562	blood:
2	chr18:12919485..12921896-chr18:12944612..12948018,3	K562	blood:

Variant related genes	Relation type
ENSG00000085415	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12326895	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12326918	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12456090	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16939974	0.88[EUR][1000 genomes]
rs1941677	1.00[ASN][1000 genomes]
rs45569735	1.00[ASN][1000 genomes]
rs57059670	1.00[ASN][1000 genomes]
rs59094674	1.00[ASN][1000 genomes]
rs7229084	1.00[ASN][1000 genomes]
rs73406801	1.00[ASN][1000 genomes]
rs73408703	1.00[ASN][1000 genomes]
rs73416984	1.00[ASN][1000 genomes]
rs73950701	1.00[ASN][1000 genomes]
rs73950702	1.00[ASN][1000 genomes]
rs8083335	1.00[ASN][1000 genomes]
rs8089518	1.00[ASN][1000 genomes]
rs8090005	1.00[ASN][1000 genomes]
rs8092206	1.00[ASN][1000 genomes]
rs8093334	1.00[ASN][1000 genomes]
rs8098858	0.81[EUR][1000 genomes]
rs9916925	0.90[EUR][1000 genomes]
rs9953027	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12919800-12922000	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr18:12920000-12922000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr18:12920000-12922200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr18:12920800-12921800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr18:12920800-12921800	Enhancers	Dnd41	blood
6	chr18:12920800-12922000	Enhancers	Fetal Thymus	thymus
7	chr18:12921000-12921800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr18:12921000-12921800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:12921000-12922000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr18:12921200-12921800	Enhancers	Primary T cells from cord blood	blood
11	chr18:12921200-12921800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:12921200-12922000	Enhancers	Thymus	Thymus
13	chr18:12921400-12921800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:12921400-12921800	Bivalent Enhancer	HepG2	liver
15	chr18:12921400-12922000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr18:12921400-12922600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr18:12921600-12921800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr18:12921600-12922000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr18:12921600-12922000	Enhancers	GM12878-XiMat	blood
20	chr18:12921600-12925000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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