Variant report

Variant	rs2692537
Chromosome Location	chr2:54015977-54015978
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	chr2:54014148..54016031-chr2:54196984..54199909,2	MCF-7	breast:
2	chr2:54008638..54010431-chr2:54015192..54016791,2	K562	blood:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10171954	0.82[ASN][1000 genomes]
rs10181460	0.83[EUR][1000 genomes]
rs10188142	0.81[ASN][1000 genomes]
rs10192626	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10203095	0.83[ASN][1000 genomes]
rs10490471	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13414216	0.83[ASN][1000 genomes]
rs2111623	0.81[ASN][1000 genomes]
rs2357693	0.83[ASN][1000 genomes]
rs2542574	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2542576	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2542584	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2542585	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2542588	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2542593	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2692515	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2692518	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2692531	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2692532	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2692536	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2909263	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2949811	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2949812	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3821081	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4413193	0.83[AFR][1000 genomes]
rs4671529	0.83[ASN][1000 genomes]
rs4671583	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6738369	0.82[ASN][1000 genomes]
rs698854	0.81[ASN][1000 genomes]
rs7572776	0.81[ASN][1000 genomes]
rs7573991	0.81[ASN][1000 genomes]
rs7596349	0.89[AFR][1000 genomes]
rs7601692	0.82[ASN][1000 genomes]
rs805438	0.81[ASN][1000 genomes]
rs918207	0.81[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2692537	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54012400-54016000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:54014600-54016000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:54014800-54016200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:54015000-54016000	Flanking Active TSS	Dnd41	blood
5	chr2:54015000-54016800	Enhancers	Spleen	Spleen
6	chr2:54015200-54016200	Weak transcription	Ovary	ovary
7	chr2:54015200-54016400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:54015200-54016400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:54015200-54016400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:54015200-54018000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr2:54015200-54024000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:54015200-54025400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:54015200-54029800	Weak transcription	Esophagus	oesophagus
14	chr2:54015200-54038200	Weak transcription	Small Intestine	intestine
15	chr2:54015200-54046200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:54015200-54046200	Weak transcription	Aorta	Aorta
17	chr2:54015200-54051600	Weak transcription	Stomach Mucosa	stomach
18	chr2:54015200-54053800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:54015400-54016000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:54015400-54016000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:54015400-54016000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr2:54015400-54016000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr2:54015400-54016200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:54015400-54018000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:54015400-54021600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:54015600-54016000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:54015600-54016200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:54015600-54016200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:54015600-54016200	Enhancers	Colon Smooth Muscle	Colon
30	chr2:54015600-54016400	Enhancers	Primary hematopoietic stem cells	blood
31	chr2:54015600-54016400	Enhancers	Gastric	stomach
32	chr2:54015600-54016400	Enhancers	Left Ventricle	heart
33	chr2:54015600-54016400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:54015600-54016400	Flanking Active TSS	HepG2	liver
35	chr2:54015600-54016800	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:54015600-54017400	Enhancers	Lung	lung
37	chr2:54015600-54020000	Weak transcription	Brain Angular Gyrus	brain
38	chr2:54015600-54021600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:54015600-54022000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:54015600-54022200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:54015600-54022200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:54015600-54022200	Weak transcription	Brain Germinal Matrix	brain
43	chr2:54015600-54022200	Weak transcription	Fetal Kidney	kidney
44	chr2:54015600-54022800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr2:54015600-54029600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:54015600-54035600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:54015600-54035800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:54015600-54054600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr2:54015800-54016000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:54015800-54016000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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