Variant report

Variant	rs1215147
Chromosome Location	chr2:54434832-54434833
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54430392..54431993-chr2:54432039..54434857,2	MCF-7	breast:
2	chr2:54432631..54436865-chr2:54437237..54440391,3	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10171521	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1099438	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1215140	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1215141	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1215142	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1215145	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1215146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1215148	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1215149	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1237253	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1351881	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1385274	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1682107	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1682110	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1682112	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1682113	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1682114	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1727501	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1727506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1727507	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1727508	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1727509	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2695648	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6718204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6727644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6743897	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs698750	0.86[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs698753	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72802616	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs843645	0.89[CHB][hapmap];0.86[MEX][hapmap]
rs843649	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs843652	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs843655	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs843657	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs843658	1.00[CEU][hapmap];0.92[CHD][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs843659	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs843660	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs843664	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs843665	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs843693	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs843694	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs843698	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs843700	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs843701	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs843704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs843707	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs843743	0.81[CHD][hapmap]
rs843751	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs843752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs843753	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs843755	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs843757	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs843758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs843759	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs843761	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs843766	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs860058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1007731	chr2:54331179-54452329	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	nsv535723	chr2:54331179-54452329	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	nsv1000652	chr2:54345892-54469703	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv1009828	chr2:54393122-54488721	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv525086	chr2:54432222-54459211	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1215147	ACYP2	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54387800-54457400	Weak transcription	Aorta	Aorta
2	chr2:54388400-54435000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:54412600-54435000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:54416200-54451400	Weak transcription	Left Ventricle	heart
5	chr2:54431400-54435200	Enhancers	HepG2	liver
6	chr2:54433600-54436200	Enhancers	Brain Anterior Caudate	brain
7	chr2:54434000-54435200	Enhancers	Fetal Heart	heart
8	chr2:54434000-54436200	Enhancers	HUVEC	blood vessel
9	chr2:54434000-54436400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:54434000-54437000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:54434000-54437000	Enhancers	Osteobl	bone
12	chr2:54434200-54437000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:54434200-54437000	Enhancers	Adipose Nuclei	Adipose
14	chr2:54434400-54435000	Weak transcription	Right Atrium	heart
15	chr2:54434400-54435200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:54434400-54435200	Enhancers	Ovary	ovary
17	chr2:54434400-54435200	Enhancers	NHEK	skin
18	chr2:54434400-54435400	Enhancers	Brain Substantia Nigra	brain
19	chr2:54434400-54435800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:54434400-54436000	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:54434400-54436800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:54434400-54436800	Enhancers	HSMM	muscle
23	chr2:54434400-54437000	Enhancers	Fetal Kidney	kidney
24	chr2:54434400-54437000	Enhancers	NHLF	lung
25	chr2:54434400-54437800	Enhancers	NHDF-Ad	bronchial
26	chr2:54434600-54435200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:54434600-54435400	Enhancers	Liver	Liver
28	chr2:54434600-54435600	Enhancers	Colon Smooth Muscle	Colon
29	chr2:54434600-54435800	Enhancers	HMEC	breast
30	chr2:54434600-54436000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:54434600-54436800	Enhancers	Hela-S3	cervix
32	chr2:54434600-54437000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr2:54434600-54437000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr2:54434600-54437000	Enhancers	HSMMtube	muscle
35	chr2:54434600-54437200	Enhancers	Fetal Lung	lung
36	chr2:54434800-54435200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:54434800-54435800	Enhancers	Brain Hippocampus Middle	brain
38	chr2:54434800-54435800	Enhancers	Psoas Muscle	Psoas
39	chr2:54434800-54436000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:54434800-54437000	Enhancers	NH-A	brain

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