Variant report

Variant	rs2692518
Chromosome Location	chr2:54031883-54031884
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	chr2:53993226..53995019-chr2:54030146..54032041,3	K562	blood:
2	chr2:54025483..54027940-chr2:54030196..54032461,2	K562	blood:

Variant related genes	Relation type
ENSG00000143942	Chromatin interaction
ENSG00000115239	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10171954	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10178643	0.87[ASN][1000 genomes]
rs10188142	0.89[ASN][1000 genomes]
rs10192626	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10201938	0.88[ASN][1000 genomes]
rs10203095	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10490471	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11684084	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12621225	0.83[ASN][1000 genomes]
rs13414216	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13417926	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13432632	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2111622	0.88[ASN][1000 genomes]
rs2111623	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2160931	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2193682	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2193683	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2357693	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2542574	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2542576	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2542579	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2542584	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2542585	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2542588	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2542593	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2692515	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2692531	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2692532	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2692536	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2692537	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2909263	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2949811	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2949812	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770403	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770405	0.82[EUR][1000 genomes]
rs3821081	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4413193	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4671529	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671583	0.91[ASN][1000 genomes]
rs56173218	0.86[ASN][1000 genomes]
rs6705712	0.85[ASN][1000 genomes]
rs6708095	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6738369	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6743627	0.81[ASN][1000 genomes]
rs698854	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7572776	0.89[ASN][1000 genomes]
rs7573991	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7596349	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7601692	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805322	0.89[EUR][1000 genomes]
rs805359	0.87[EUR][1000 genomes]
rs805374	0.88[EUR][1000 genomes]
rs805375	0.88[EUR][1000 genomes]
rs805379	0.87[EUR][1000 genomes]
rs805380	0.88[EUR][1000 genomes]
rs805391	0.85[EUR][1000 genomes]
rs805392	0.84[EUR][1000 genomes]
rs805393	0.82[EUR][1000 genomes]
rs805402	0.85[EUR][1000 genomes]
rs805405	0.82[EUR][1000 genomes]
rs805410	0.84[EUR][1000 genomes]
rs805421	0.82[EUR][1000 genomes]
rs805423	0.87[EUR][1000 genomes]
rs805424	0.87[EUR][1000 genomes]
rs805430	0.88[EUR][1000 genomes]
rs805433	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805436	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805438	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805439	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805441	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs809280	0.86[EUR][1000 genomes]
rs918207	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1009829	chr2:53980562-54051927	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2692518	ACYP2	cis	Muscle Skeletal	GTEx
rs2692518	ACYP2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54015200-54038200	Weak transcription	Small Intestine	intestine
2	chr2:54015200-54046200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:54015200-54046200	Weak transcription	Aorta	Aorta
4	chr2:54015200-54051600	Weak transcription	Stomach Mucosa	stomach
5	chr2:54015200-54053800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:54015600-54035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:54015600-54035800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:54015600-54054600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:54015800-54038400	Weak transcription	Fetal Heart	heart
10	chr2:54015800-54054000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:54016400-54043000	Weak transcription	Gastric	stomach
12	chr2:54020200-54046200	Weak transcription	Colonic Mucosa	Colon
13	chr2:54020600-54047200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:54020600-54048400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:54020600-54048600	Strong transcription	Osteobl	bone
16	chr2:54021000-54047200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr2:54021000-54047200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:54021000-54047400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:54021000-54048000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:54021200-54047200	Strong transcription	Placenta	Placenta
21	chr2:54021200-54047600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:54021400-54047000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:54021400-54047000	Strong transcription	Fetal Thymus	thymus
24	chr2:54021600-54035000	Strong transcription	Liver	Liver
25	chr2:54021600-54046400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:54021800-54047600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:54022000-54032000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:54022000-54039400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:54022000-54044800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:54022000-54047000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:54022000-54047000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:54022000-54047200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:54022000-54047600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:54022200-54032000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr2:54022200-54039000	Strong transcription	Fetal Intestine Large	intestine
36	chr2:54022200-54046200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr2:54022200-54046600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:54022200-54047200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:54023000-54053800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:54024200-54043400	Strong transcription	Dnd41	blood
41	chr2:54024400-54035000	Weak transcription	HSMMtube	muscle
42	chr2:54024800-54039600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:54024800-54045400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:54025000-54040000	Weak transcription	K562	blood
45	chr2:54025800-54035400	Weak transcription	Pancreas	Pancrea
46	chr2:54025800-54036600	Weak transcription	Spleen	Spleen
47	chr2:54025800-54062000	Weak transcription	Right Ventricle	heart
48	chr2:54025800-54085600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr2:54026400-54033600	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:54026400-54034000	Weak transcription	Placenta Amnion	Placenta Amnion

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