Variant report

Variant	rs6115178
Chromosome Location	chr20:25400154-25400155
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	chr20:25393485..25396024-chr20:25399784..25401777,2	K562	blood:

Variant related genes	Relation type
ENSG00000101003	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11905437	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs16987806	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs17244452	1.00[CEU][hapmap]
rs17857107	0.91[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.85[EUR][1000 genomes]
rs56059261	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56243008	0.94[EUR][1000 genomes]
rs56251619	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56291736	0.84[AMR][1000 genomes]
rs6050456	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs6107023	1.00[CEU][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes]
rs6107024	0.84[AMR][1000 genomes]
rs6107039	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6107049	0.86[EUR][1000 genomes]
rs6115092	0.92[CEU][hapmap];1.00[TSI][hapmap]
rs6115130	0.84[AMR][1000 genomes]
rs6115142	0.94[AMR][1000 genomes]
rs6115145	0.94[AMR][1000 genomes]
rs6115151	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6115154	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6115177	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6115187	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6115193	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs6115208	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs6115211	0.81[EUR][1000 genomes]
rs6115223	1.00[CEU][hapmap]
rs7272126	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs73107411	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73107474	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73111242	0.83[EUR][1000 genomes]
rs8119343	1.00[CEU][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 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	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
rs6115178	ABHD12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25388800-25418000	Weak transcription	Gastric	stomach
2	chr20:25389000-25400200	Weak transcription	Stomach Mucosa	stomach
3	chr20:25389000-25433600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr20:25389200-25411000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr20:25389200-25415000	Weak transcription	Primary B cells from cord blood	blood
6	chr20:25389400-25402400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:25389400-25407000	Weak transcription	Fetal Intestine Large	intestine
8	chr20:25389400-25407800	Weak transcription	Fetal Brain Female	brain
9	chr20:25389400-25422800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr20:25389600-25400800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr20:25389600-25426400	Weak transcription	NH-A	brain
12	chr20:25389600-25426600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr20:25389600-25432200	Weak transcription	Fetal Brain Male	brain
14	chr20:25389800-25401200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr20:25389800-25406800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:25389800-25411400	Weak transcription	Fetal Kidney	kidney
17	chr20:25389800-25417000	Weak transcription	Fetal Heart	heart
18	chr20:25389800-25417600	Weak transcription	HSMM	muscle
19	chr20:25389800-25432600	Weak transcription	Esophagus	oesophagus
20	chr20:25390000-25434800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr20:25390200-25406600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:25390200-25416200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr20:25390400-25417400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr20:25390600-25426200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr20:25390600-25433400	Weak transcription	Brain Germinal Matrix	brain
26	chr20:25391000-25418400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr20:25391600-25416000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr20:25391600-25416200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr20:25392200-25430800	Strong transcription	Dnd41	blood
30	chr20:25393200-25416400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr20:25393400-25406600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:25393400-25416000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr20:25393400-25416400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr20:25393600-25416400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr20:25394000-25400200	Strong transcription	A549	lung
36	chr20:25394200-25401800	Strong transcription	HepG2	liver
37	chr20:25394200-25416200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr20:25394800-25410400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr20:25395000-25416200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr20:25396000-25401600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr20:25396400-25400200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr20:25396600-25400400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr20:25396600-25404200	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr20:25397000-25400800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr20:25397600-25402600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr20:25397800-25402000	Strong transcription	Fetal Stomach	stomach
47	chr20:25398200-25400200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr20:25398600-25400600	Strong transcription	Fetal Lung	lung
49	chr20:25398800-25400400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr20:25398800-25403600	Weak transcription	Fetal Intestine Small	intestine

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