Variant report

Variant	rs10208233
Chromosome Location	chr2:54293570-54293571
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54184085..54186543-chr2:54292825..54294983,2	K562	blood:
2	chr2:54292163..54295767-chr2:54296379..54301634,7	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10084355	0.85[EUR][1000 genomes]
rs10203576	0.93[EUR][1000 genomes]
rs10207537	0.82[EUR][1000 genomes]
rs1058320	0.86[EUR][1000 genomes]
rs1075265	0.82[EUR][1000 genomes]
rs11125523	0.82[ASN][1000 genomes]
rs1118618	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11687324	0.93[EUR][1000 genomes]
rs12616212	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12713253	0.84[EUR][1000 genomes]
rs1363062	0.87[EUR][1000 genomes]
rs1363063	0.92[EUR][1000 genomes]
rs1363065	0.81[ASN][1000 genomes]
rs1421617	0.85[EUR][1000 genomes]
rs1421622	0.93[EUR][1000 genomes]
rs17268179	0.84[EUR][1000 genomes]
rs1833498	0.83[EUR][1000 genomes]
rs1877906	0.80[EUR][1000 genomes]
rs2042143	0.82[EUR][1000 genomes]
rs2112124	0.81[EUR][1000 genomes]
rs4671872	0.80[EUR][1000 genomes]
rs4671889	0.84[ASN][1000 genomes]
rs6545379	0.81[ASN][1000 genomes]
rs6545384	0.89[EUR][1000 genomes]
rs6545388	0.81[EUR][1000 genomes]
rs6545389	0.82[ASN][1000 genomes]
rs6724389	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6749817	0.84[EUR][1000 genomes]
rs7560947	0.86[EUR][1000 genomes]
rs7562055	0.83[EUR][1000 genomes]
rs7569214	0.81[EUR][1000 genomes]
rs7569370	0.81[EUR][1000 genomes]
rs7569743	0.81[EUR][1000 genomes]
rs7573491	0.82[EUR][1000 genomes]
rs7591194	0.85[EUR][1000 genomes]
rs7607066	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv1010175	chr2:54292951-54343466	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10208233	ACYP2	cis	Muscle Skeletal	GTEx
rs10208233	ACYP2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54278800-54302400	Weak transcription	Left Ventricle	heart
2	chr2:54280800-54310000	Weak transcription	Ovary	ovary
3	chr2:54280800-54315000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:54280800-54315200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:54280800-54331000	Weak transcription	Aorta	Aorta
6	chr2:54281600-54308800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:54282200-54293800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:54287000-54310000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:54287200-54307000	Weak transcription	Primary T cells from cord blood	blood
10	chr2:54287400-54295000	Weak transcription	K562	blood
11	chr2:54289800-54317600	Weak transcription	Primary B cells from cord blood	blood
12	chr2:54290600-54293600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:54290600-54293800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:54290600-54294400	Enhancers	HMEC	breast
15	chr2:54291000-54293800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:54291200-54342000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:54291400-54295200	Weak transcription	Stomach Mucosa	stomach
18	chr2:54291600-54293600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:54291600-54295000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:54291600-54295200	Weak transcription	Psoas Muscle	Psoas
21	chr2:54291600-54298000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:54291800-54294600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:54291800-54295600	Enhancers	HSMMtube	muscle
24	chr2:54291800-54304800	Weak transcription	Fetal Kidney	kidney
25	chr2:54292000-54293600	Enhancers	HSMM	muscle
26	chr2:54292000-54308400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:54292200-54293600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:54292200-54293600	Enhancers	NHLF	lung
29	chr2:54292400-54293600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:54293000-54306000	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:54293200-54293600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:54293200-54293800	Enhancers	NHDF-Ad	bronchial
33	chr2:54293200-54295000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:54293200-54295400	Enhancers	Fetal Brain Male	brain
35	chr2:54293200-54306200	Weak transcription	Brain Anterior Caudate	brain
36	chr2:54293200-54306200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:54293400-54294000	Enhancers	NHEK	skin
38	chr2:54293400-54295000	Weak transcription	NH-A	brain
39	chr2:54293400-54295000	Weak transcription	Osteobl	bone
40	chr2:54293400-54295800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr2:54293400-54308400	Weak transcription	Fetal Muscle Leg	muscle

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