Variant report

Variant	rs13417926
Chromosome Location	chr2:54052657-54052658
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:41465197..41465712-chr2:54052527..54053034,3	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000188825	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10490471	0.81[ASN][1000 genomes]
rs2542574	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2542576	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2542579	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2542584	0.82[ASN][1000 genomes]
rs2542585	0.82[ASN][1000 genomes]
rs2542588	0.85[ASN][1000 genomes]
rs2542593	0.86[ASN][1000 genomes]
rs2692515	0.84[ASN][1000 genomes]
rs2692518	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2692531	0.81[ASN][1000 genomes]
rs2692532	0.82[ASN][1000 genomes]
rs2692536	0.82[ASN][1000 genomes]
rs2909263	0.86[ASN][1000 genomes]
rs2949811	0.86[ASN][1000 genomes]
rs2949812	0.84[ASN][1000 genomes]
rs3821081	0.80[EUR][1000 genomes]
rs6738369	0.80[EUR][1000 genomes]
rs698854	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805322	0.88[EUR][1000 genomes]
rs805359	0.86[EUR][1000 genomes]
rs805374	0.85[EUR][1000 genomes]
rs805375	0.85[EUR][1000 genomes]
rs805379	0.88[EUR][1000 genomes]
rs805380	0.86[EUR][1000 genomes]
rs805391	0.83[EUR][1000 genomes]
rs805392	0.85[EUR][1000 genomes]
rs805393	0.83[EUR][1000 genomes]
rs805402	0.84[EUR][1000 genomes]
rs805405	0.84[EUR][1000 genomes]
rs805410	0.86[EUR][1000 genomes]
rs805421	0.84[EUR][1000 genomes]
rs805423	0.89[EUR][1000 genomes]
rs805424	0.86[EUR][1000 genomes]
rs805430	0.85[EUR][1000 genomes]
rs805433	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805436	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805438	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805439	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805441	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs809280	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003263	chr2:53863287-54055359	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv535720	chr2:53863287-54055359	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13417926	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54015200-54053800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:54015600-54054600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:54015800-54054000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:54023000-54053800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:54025800-54062000	Weak transcription	Right Ventricle	heart
6	chr2:54025800-54085600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:54030400-54063000	Weak transcription	Esophagus	oesophagus
8	chr2:54035800-54052800	Weak transcription	Brain Substantia Nigra	brain
9	chr2:54038800-54053000	Weak transcription	Fetal Brain Male	brain
10	chr2:54040200-54055000	Weak transcription	Fetal Heart	heart
11	chr2:54040600-54053000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:54040800-54053000	Weak transcription	Brain Angular Gyrus	brain
13	chr2:54040800-54053000	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:54041400-54054600	Weak transcription	Psoas Muscle	Psoas
15	chr2:54041400-54056400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:54042800-54062200	Weak transcription	Fetal Kidney	kidney
17	chr2:54043000-54053800	Weak transcription	NHEK	skin
18	chr2:54043200-54053000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:54043200-54053800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:54043400-54053000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:54043400-54053600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:54045400-54053000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:54045400-54053000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:54046000-54053600	Weak transcription	NH-A	brain
25	chr2:54046400-54053000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:54046600-54080200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:54046600-54080200	Weak transcription	NHDF-Ad	bronchial
28	chr2:54046800-54053000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:54046800-54054000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:54046800-54054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:54046800-54054200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:54046800-54056800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:54046800-54060400	Weak transcription	Primary B cells from cord blood	blood
34	chr2:54046800-54070800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:54046800-54080400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:54047000-54053000	Weak transcription	Ovary	ovary
37	chr2:54047000-54053000	Weak transcription	HMEC	breast
38	chr2:54047000-54053800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:54047000-54054000	Weak transcription	NHLF	lung
40	chr2:54047000-54056600	Weak transcription	Brain Germinal Matrix	brain
41	chr2:54047000-54060600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:54047000-54061400	Weak transcription	Fetal Thymus	thymus
43	chr2:54047000-54080200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:54047000-54080200	Weak transcription	A549	lung
45	chr2:54047000-54080400	Weak transcription	Gastric	stomach
46	chr2:54047000-54080400	Weak transcription	Pancreas	Pancrea
47	chr2:54047000-54080800	Weak transcription	Aorta	Aorta
48	chr2:54047200-54052800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:54047200-54053000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:54047200-54053000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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