Variant report

Variant	rs2692536
Chromosome Location	chr2:54015403-54015404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:54013442-54015420	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr2:54013208-54015472	IMR90	lung:	n/a	n/a
3	MAZ	chr2:54012927-54015605	IMR90	lung:	n/a	chr2:54013359-54013367
4	MXI1	chr2:54013439-54015410	HepG2	liver:	n/a	n/a
5	MYC	chr2:54014759-54015416	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr2:54015082-54015462	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT3	chr2:54015344-54015520	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr2:54015365-54015513	HepG2	liver:	n/a	n/a
9	MXI1	chr2:54011532-54015698	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr2:54013291-54015697	IMR90	lung:	n/a	n/a
11	MXI1	chr2:54013411-54015428	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:54014148..54016031-chr2:54196984..54199909,2	MCF-7	breast:
2	chr2:53992980..53996474-chr2:54011575..54015691,9	K562	blood:
3	chr2:54008638..54010431-chr2:54015192..54016791,2	K562	blood:
4	chr2:53993518..53997677-chr2:54010995..54015634,7	MCF-7	breast:

Variant related genes	Relation type
GPR75-ASB3	TF binding region
ENSG00000170634	Chromatin interaction
ENSG00000068878	Chromatin interaction
ENSG00000143942	Chromatin interaction
ENSG00000115239	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10171954	0.90[ASN][1000 genomes]
rs10178643	0.86[ASN][1000 genomes]
rs10181460	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10188142	0.95[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs10192626	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10201938	0.87[ASN][1000 genomes]
rs10203095	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10490471	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11684084	0.82[ASN][1000 genomes]
rs12621225	0.81[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs13414216	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs13417926	0.82[ASN][1000 genomes]
rs13432632	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2111622	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2111623	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2160929	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2160931	1.00[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.83[MKK][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2193682	0.80[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2193683	0.82[ASN][1000 genomes]
rs2357693	1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2542574	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2542576	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2542579	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2542584	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2542585	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2542588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2542593	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2692515	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2692518	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2692531	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2692532	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2692537	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2909263	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2949811	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2949812	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3821081	1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4413193	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4671529	0.90[ASN][1000 genomes]
rs4671583	0.95[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs56173218	0.85[ASN][1000 genomes]
rs6705712	0.91[CHB][hapmap];0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs6708095	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6738369	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6743627	0.80[ASW][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.87[YRI][hapmap]
rs698854	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7556791	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs7557799	0.86[ASW][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap]
rs7557898	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs7572776	0.88[ASN][1000 genomes]
rs7573991	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7596349	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7601692	1.00[ASW][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MKK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs805433	0.85[ASN][1000 genomes]
rs805436	0.87[ASN][1000 genomes]
rs805438	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805439	1.00[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs918207	0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.89[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
rs2692536	ACYP2	cis	Esophagus Muscularis	GTEx
rs2692536	ACYP2	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54011800-54015800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:54012200-54015800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:54012200-54015800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:54012400-54015600	Active TSS	GM12878-XiMat	blood
5	chr2:54012400-54015800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:54012400-54015800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:54012400-54015800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:54012400-54016000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:54012600-54015600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr2:54012600-54015600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr2:54012600-54015600	Active TSS	Colonic Mucosa	Colon
12	chr2:54012600-54015600	Active TSS	K562	blood
13	chr2:54012600-54015800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr2:54012600-54015800	Active TSS	NHLF	lung
15	chr2:54012800-54015600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:54013000-54015600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr2:54013000-54015600	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr2:54013000-54015600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:54013000-54015600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:54013000-54015600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:54013000-54015600	Active TSS	Pancreas	Pancrea
22	chr2:54013000-54015600	Active TSS	Right Atrium	heart
23	chr2:54013000-54015600	Active TSS	HSMM	muscle
24	chr2:54013200-54015600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:54013200-54015600	Active TSS	Psoas Muscle	Psoas
26	chr2:54013600-54015600	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr2:54014400-54015600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr2:54014600-54015600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr2:54014600-54015600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr2:54014600-54015600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr2:54014600-54015600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:54014600-54015800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr2:54014600-54015800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr2:54014600-54015800	Flanking Active TSS	Liver	Liver
35	chr2:54014600-54015800	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr2:54014600-54015800	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr2:54014600-54016000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:54014800-54015600	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr2:54014800-54015600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr2:54014800-54015600	Flanking Active TSS	Fetal Lung	lung
41	chr2:54014800-54015800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:54014800-54015800	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr2:54014800-54016200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:54015000-54015600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr2:54015000-54015600	Flanking Active TSS	Colon Smooth Muscle	Colon
46	chr2:54015000-54015600	Flanking Active TSS	Fetal Stomach	stomach
47	chr2:54015000-54015600	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr2:54015000-54015800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:54015000-54015800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr2:54015000-54015800	Flanking Active TSS	HUVEC	blood vessel

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