Variant report

Variant	rs66592094
Chromosome Location	chr12:56036088-56036089
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	chr12:56030702..56032537-chr12:56035448..56036952,2	K562	blood:
2	chr12:56034180..56037174-chr12:56318793..56320905,2	K562	blood:

Variant related genes	Relation type
ENSG00000170473	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17117846	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17511746	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55644943	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55819151	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55847809	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56243753	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56315406	0.81[ASN][1000 genomes]
rs56377768	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61746285	0.81[ASN][1000 genomes]
rs73114979	0.89[ASN][1000 genomes]
rs73114980	0.89[ASN][1000 genomes]
rs73114982	0.92[ASN][1000 genomes]
rs73117220	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73117228	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73117233	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73117248	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56023200-56036800	Weak transcription	Spleen	Spleen
2	chr12:56032200-56036200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:56032800-56040000	Weak transcription	Right Atrium	heart
4	chr12:56033800-56041400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:56034800-56037400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:56035000-56037400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr12:56035000-56037600	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:56035200-56038600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr12:56035400-56036200	Enhancers	GM12878-XiMat	blood
10	chr12:56035400-56036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:56035400-56036800	Enhancers	Fetal Muscle Leg	muscle
12	chr12:56035400-56037400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:56035400-56040200	Weak transcription	Gastric	stomach
14	chr12:56035600-56036800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:56035600-56037200	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:56035600-56040200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:56035800-56036600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:56035800-56037000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:56035800-56037000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:56035800-56037000	Enhancers	Adipose Nuclei	Adipose
21	chr12:56036000-56036400	Enhancers	Primary B cells from cord blood	blood
22	chr12:56036000-56037000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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