Variant report

Variant	rs6115145
Chromosome Location	chr20:25304289-25304290
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:25295807..25298293-chr20:25302446..25304488,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56059261	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs56251619	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56291736	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6107016	0.88[EUR][1000 genomes]
rs6107023	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6107024	0.98[EUR][1000 genomes]
rs6107039	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6115092	0.81[EUR][1000 genomes]
rs6115115	0.88[EUR][1000 genomes]
rs6115130	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6115142	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6115151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6115154	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6115177	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6115178	0.94[AMR][1000 genomes]
rs6115187	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs66638809	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73101732	0.88[EUR][1000 genomes]
rs73107411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73107474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8119343	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
9	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
12	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv833948	chr20:25231726-25410540	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	esv1798601	chr20:25250122-25305949	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6115145	ABHD12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25278800-25305600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:25289200-25304600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr20:25292000-25310000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:25292000-25325200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr20:25292000-25327400	Weak transcription	Aorta	Aorta
6	chr20:25292200-25305600	Weak transcription	Hela-S3	cervix
7	chr20:25292200-25309600	Weak transcription	Psoas Muscle	Psoas
8	chr20:25292200-25316600	Weak transcription	NHEK	skin
9	chr20:25292400-25308400	Weak transcription	HSMMtube	muscle
10	chr20:25292400-25308600	Weak transcription	HSMM	muscle
11	chr20:25292400-25311200	Weak transcription	K562	blood
12	chr20:25292400-25325200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr20:25292600-25309000	Weak transcription	Colon Smooth Muscle	Colon
14	chr20:25292600-25351600	Weak transcription	NHDF-Ad	bronchial
15	chr20:25294400-25306400	Strong transcription	Dnd41	blood
16	chr20:25295600-25304800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr20:25296400-25306000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr20:25296600-25310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr20:25296800-25305400	Weak transcription	HMEC	breast
20	chr20:25296800-25308200	Weak transcription	NH-A	brain
21	chr20:25296800-25308800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr20:25296800-25316600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr20:25297800-25317800	Weak transcription	Fetal Brain Female	brain
24	chr20:25298000-25304400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr20:25298000-25304400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr20:25298000-25306000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr20:25299400-25304800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr20:25299600-25304400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr20:25299600-25304600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr20:25299600-25305000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr20:25299800-25306400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr20:25300000-25304800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr20:25300000-25306200	Strong transcription	Thymus	Thymus
34	chr20:25300400-25304800	Weak transcription	Primary B cells from cord blood	blood
35	chr20:25300400-25304800	Strong transcription	NHLF	lung
36	chr20:25300600-25304400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr20:25300600-25304800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr20:25300600-25305000	Strong transcription	Primary T cells from cord blood	blood
39	chr20:25300800-25304400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr20:25301000-25304400	Strong transcription	Left Ventricle	heart
41	chr20:25301000-25306800	Weak transcription	Fetal Lung	lung
42	chr20:25301600-25304800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr20:25301600-25305800	Weak transcription	Right Atrium	heart
44	chr20:25301600-25308400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr20:25301600-25309000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr20:25301800-25304400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr20:25301800-25304400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr20:25301800-25304400	Strong transcription	A549	lung
49	chr20:25301800-25304600	Strong transcription	Fetal Muscle Leg	muscle
50	chr20:25302000-25304400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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