Variant report

Variant	rs12616212
Chromosome Location	chr2:54266246-54266247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54265196..54267933-chr2:54270964..54273028,3	K562	blood:
2	chr2:54177874..54180266-chr2:54264594..54267225,2	K562	blood:
3	chr2:54263866..54266283-chr2:54268179..54270997,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10084355	0.94[EUR][1000 genomes]
rs10201364	0.89[EUR][1000 genomes]
rs10203576	0.85[EUR][1000 genomes]
rs10208233	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11125519	0.82[EUR][1000 genomes]
rs1118618	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11687324	0.85[EUR][1000 genomes]
rs12713253	0.94[EUR][1000 genomes]
rs1363062	0.91[EUR][1000 genomes]
rs1363063	0.85[EUR][1000 genomes]
rs1363065	0.93[ASN][1000 genomes]
rs1421617	0.95[EUR][1000 genomes]
rs1421622	0.84[EUR][1000 genomes]
rs17268179	0.94[EUR][1000 genomes]
rs2884254	0.90[EUR][1000 genomes]
rs2909460	0.85[EUR][1000 genomes]
rs6545376	0.89[EUR][1000 genomes]
rs6545378	0.89[EUR][1000 genomes]
rs6545379	0.93[ASN][1000 genomes]
rs6724389	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6749817	0.94[EUR][1000 genomes]
rs7569214	0.91[EUR][1000 genomes]
rs7569370	0.91[EUR][1000 genomes]
rs7571086	0.83[EUR][1000 genomes]
rs7609017	0.87[EUR][1000 genomes]
rs805308	0.86[EUR][1000 genomes]
rs805309	0.86[EUR][1000 genomes]
rs805345	0.84[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
rs12616212	ACYP2	cis	Muscle Skeletal	GTEx
rs12616212	ACYP2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54243800-54268000	Weak transcription	Osteobl	bone
2	chr2:54243800-54268400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:54243800-54269800	Weak transcription	Brain Anterior Caudate	brain
4	chr2:54246800-54275200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:54248600-54278000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:54248600-54289800	Weak transcription	Fetal Lung	lung
7	chr2:54248800-54275600	Weak transcription	Primary B cells from cord blood	blood
8	chr2:54254600-54267400	Weak transcription	Brain Substantia Nigra	brain
9	chr2:54254600-54269800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:54254800-54269600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:54258000-54272200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:54258200-54266400	Weak transcription	Psoas Muscle	Psoas
13	chr2:54258200-54267000	Weak transcription	Ovary	ovary
14	chr2:54258200-54269600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr2:54258200-54269800	Weak transcription	Fetal Heart	heart
16	chr2:54258200-54269800	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:54258200-54270000	Weak transcription	HepG2	liver
18	chr2:54259000-54267200	Weak transcription	Adipose Nuclei	Adipose
19	chr2:54260000-54269800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:54260000-54272200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:54260400-54278200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:54261200-54269600	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:54262000-54268200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:54264200-54268200	Weak transcription	Primary T cells from cord blood	blood
25	chr2:54265200-54266800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:54265200-54266800	Enhancers	Brain Angular Gyrus	brain
27	chr2:54265200-54272400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:54265200-54272600	Enhancers	HMEC	breast
29	chr2:54265400-54266400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:54265600-54266400	Enhancers	NHEK	skin
31	chr2:54266000-54266400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:54266000-54266400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:54266200-54266400	Enhancers	Fetal Intestine Small	intestine
34	chr2:54266200-54266600	Enhancers	A549	lung
35	chr2:54266200-54267200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:54266200-54267400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:54266200-54269600	Weak transcription	Liver	Liver
38	chr2:54266200-54269800	Weak transcription	Aorta	Aorta
39	chr2:54266200-54281800	Weak transcription	Fetal Intestine Large	intestine

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