Variant report

Variant	rs12117655
Chromosome Location	chr1:223689916-223689917
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	chr1:223678801..223680634-chr1:223687720..223690003,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12119453	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56389919	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520420	chr1:223682051-223693162	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12117655	ENAH	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223685800-223690400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:223685800-223690600	Enhancers	Primary T cells fromperipheralblood	blood
3	chr1:223686200-223691200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr1:223686600-223690400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr1:223686800-223690400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:223686800-223690400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr1:223686800-223691200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:223687000-223690200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:223687000-223690400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr1:223687400-223690000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:223687600-223690200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:223688600-223690600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:223688800-223690000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:223689200-223690000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:223689200-223690000	Enhancers	Fetal Thymus	thymus
16	chr1:223689200-223690200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:223689200-223691400	Enhancers	Primary T cells from cord blood	blood
18	chr1:223689400-223690000	Enhancers	Dnd41	blood
19	chr1:223689400-223690200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:223689400-223690200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:223689800-223690000	Enhancers	Pancreas	Pancrea
22	chr1:223689800-223690200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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