Variant report

Variant	rs11687324
Chromosome Location	chr2:54273726-54273727
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10084355	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10201364	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10203576	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10207537	0.84[EUR][1000 genomes]
rs10208233	0.93[EUR][1000 genomes]
rs1058320	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1075265	0.83[EUR][1000 genomes]
rs11125519	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1118618	0.82[EUR][1000 genomes]
rs11683654	0.94[ASN][1000 genomes]
rs12616212	0.85[EUR][1000 genomes]
rs12713253	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13414393	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1363062	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1363063	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1421617	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1421622	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17268179	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1833498	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1877906	0.81[EUR][1000 genomes]
rs2042143	0.83[EUR][1000 genomes]
rs2048749	0.81[EUR][1000 genomes]
rs2111868	0.82[AMR][1000 genomes]
rs2112124	0.82[EUR][1000 genomes]
rs2287642	0.81[EUR][1000 genomes]
rs2884254	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2909460	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4671872	0.81[EUR][1000 genomes]
rs6545376	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6545378	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6545384	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6545388	0.82[EUR][1000 genomes]
rs6724389	0.82[EUR][1000 genomes]
rs6749817	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs698858	0.81[AMR][1000 genomes]
rs718872	0.83[AMR][1000 genomes]
rs7560947	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7562055	0.85[EUR][1000 genomes]
rs7569214	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7569370	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7569743	0.82[EUR][1000 genomes]
rs7571086	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7573491	0.83[EUR][1000 genomes]
rs7591194	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7607066	0.85[EUR][1000 genomes]
rs7609017	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805308	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805309	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805345	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs805359	0.83[AMR][1000 genomes]
rs805366	0.82[AMR][1000 genomes]
rs805367	0.83[AMR][1000 genomes]
rs805410	0.80[AMR][1000 genomes]
rs805423	0.80[AMR][1000 genomes]
rs805424	0.80[AMR][1000 genomes]
rs805450	0.83[AMR][1000 genomes]
rs805453	0.83[AMR][1000 genomes]
rs918357	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv431069	chr2:54260132-54434049	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11687324	ACYP2	cis	Esophagus Muscularis	GTEx
rs11687324	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54246800-54275200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:54248600-54278000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:54248600-54289800	Weak transcription	Fetal Lung	lung
4	chr2:54248800-54275600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:54260400-54278200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:54266200-54281800	Weak transcription	Fetal Intestine Large	intestine
7	chr2:54268200-54275000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:54268200-54282400	Weak transcription	Right Ventricle	heart
9	chr2:54268400-54286800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:54268400-54290800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:54268600-54275400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:54268800-54275000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:54268800-54275400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:54268800-54278200	Weak transcription	Pancreas	Pancrea
15	chr2:54270000-54274000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:54270200-54276600	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:54270400-54280200	Weak transcription	Ovary	ovary
18	chr2:54270800-54275400	Weak transcription	Primary T cells from cord blood	blood
19	chr2:54271000-54274000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:54271200-54277000	Weak transcription	Aorta	Aorta
21	chr2:54271400-54273800	Weak transcription	Osteobl	bone
22	chr2:54271400-54286800	Weak transcription	HSMMtube	muscle
23	chr2:54271600-54278200	Weak transcription	Left Ventricle	heart
24	chr2:54271800-54278200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:54271800-54281600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:54272000-54274000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:54272000-54280200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:54272000-54280600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:54272000-54286600	Weak transcription	HSMM	muscle
30	chr2:54272200-54275400	Weak transcription	NHEK	skin
31	chr2:54272200-54281600	Weak transcription	Brain Angular Gyrus	brain
32	chr2:54272200-54282800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:54272400-54274000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:54272400-54274200	Weak transcription	NH-A	brain
35	chr2:54272400-54276000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:54272400-54278200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:54272600-54274000	Weak transcription	Brain Anterior Caudate	brain
38	chr2:54272600-54275200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:54272600-54275400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:54272600-54278200	Weak transcription	Adipose Nuclei	Adipose
41	chr2:54272600-54278200	Weak transcription	Liver	Liver
42	chr2:54272600-54278200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:54272600-54278200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:54272600-54279800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:54272600-54280000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:54272600-54280000	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:54272600-54280000	Weak transcription	Brain Substantia Nigra	brain
48	chr2:54272600-54280000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:54272600-54280400	Weak transcription	Brain Germinal Matrix	brain
50	chr2:54272600-54286600	Weak transcription	Muscle Satellite Cultured Cells	--

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