Variant report

Variant	rs6107039
Chromosome Location	chr20:25418190-25418191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11905437	0.94[EUR][1000 genomes]
rs16987806	0.94[EUR][1000 genomes]
rs17857107	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56059261	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56243008	0.94[EUR][1000 genomes]
rs56251619	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56291736	0.85[AFR][1000 genomes]
rs6107023	0.88[AFR][1000 genomes]
rs6107049	0.86[EUR][1000 genomes]
rs6115130	0.88[AFR][1000 genomes]
rs6115142	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6115145	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6115151	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6115154	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6115177	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6115178	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6115187	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6115193	0.94[EUR][1000 genomes]
rs6115208	0.86[EUR][1000 genomes]
rs6115211	0.81[EUR][1000 genomes]
rs7272126	0.94[EUR][1000 genomes]
rs73107411	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73107474	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73111242	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv482647	chr20:25308912-25481982	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
14	nsv1056997	chr20:25316663-25492339	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
15	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
16	nsv1061398	chr20:25370106-25444076	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv1059494	chr20:25377602-25441835	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
18	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
19	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
20	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6107039	ABHD12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25389000-25433600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr20:25389400-25422800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr20:25389600-25426400	Weak transcription	NH-A	brain
4	chr20:25389600-25426600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr20:25389600-25432200	Weak transcription	Fetal Brain Male	brain
6	chr20:25389800-25432600	Weak transcription	Esophagus	oesophagus
7	chr20:25390000-25434800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr20:25390600-25426200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr20:25390600-25433400	Weak transcription	Brain Germinal Matrix	brain
10	chr20:25391000-25418400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr20:25392200-25430800	Strong transcription	Dnd41	blood
12	chr20:25398800-25429800	Weak transcription	Hela-S3	cervix
13	chr20:25399800-25433600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr20:25399800-25434800	Weak transcription	NHLF	lung
15	chr20:25402800-25445200	Weak transcription	NHDF-Ad	bronchial
16	chr20:25405200-25420200	Strong transcription	HepG2	liver
17	chr20:25406000-25432600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr20:25406800-25426600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr20:25408400-25425000	Weak transcription	Osteobl	bone
20	chr20:25409000-25427000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr20:25409000-25432800	Weak transcription	K562	blood
22	chr20:25410800-25425200	Weak transcription	Fetal Intestine Large	intestine
23	chr20:25411800-25419600	Weak transcription	GM12878-XiMat	blood
24	chr20:25411800-25421600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr20:25412000-25426600	Weak transcription	Fetal Kidney	kidney
26	chr20:25412000-25429000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:25412200-25433600	Weak transcription	Spleen	Spleen
28	chr20:25412400-25432200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr20:25412600-25428400	Weak transcription	Fetal Brain Female	brain
30	chr20:25412600-25440200	Weak transcription	Placenta	Placenta
31	chr20:25413800-25430600	Weak transcription	Aorta	Aorta
32	chr20:25414200-25436000	Weak transcription	Primary T cells from cord blood	blood
33	chr20:25415400-25433600	Weak transcription	Pancreas	Pancrea
34	chr20:25415600-25425200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr20:25415600-25425200	Weak transcription	Fetal Thymus	thymus
36	chr20:25415600-25432200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr20:25415600-25432400	Weak transcription	Ovary	ovary
38	chr20:25415800-25419400	Weak transcription	Primary B cells from cord blood	blood
39	chr20:25415800-25419800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr20:25416000-25421600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr20:25416000-25425200	Weak transcription	Fetal Lung	lung
42	chr20:25416000-25425400	Weak transcription	Fetal Muscle Leg	muscle
43	chr20:25416000-25426800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr20:25416000-25429200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr20:25416200-25419800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr20:25416200-25421600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr20:25416200-25421600	Weak transcription	Fetal Stomach	stomach
48	chr20:25416400-25424600	Weak transcription	Fetal Intestine Small	intestine
49	chr20:25417000-25418200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr20:25417000-25418200	Genic enhancers	A549	lung

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