Variant report

Variant	rs6132851
Chromosome Location	chr20:25595356-25595357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25594825..25598206-chr20:25602674..25604770,4	MCF-7	breast:
2	chr20:25591410..25597359-chr20:25600309..25606040,12	K562	blood:
3	chr20:25593129..25595979-chr20:25604532..25607057,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213742	Chromatin interaction
ENSG00000170191	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs2072975	0.86[AMR][1000 genomes]
rs2072977	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2235605	0.90[AMR][1000 genomes]
rs2235606	0.88[AMR][1000 genomes]
rs2235607	0.90[AMR][1000 genomes]
rs2294583	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2500441	0.81[AMR][1000 genomes]
rs35016365	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35364051	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59046052	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6050690	0.88[ASN][1000 genomes]
rs6115218	0.94[ASN][1000 genomes]
rs6115241	0.83[ASN][1000 genomes]
rs6132842	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6132857	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6132858	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6132861	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6132862	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6132863	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6138569	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs6138573	0.90[AMR][1000 genomes]
rs6138576	0.87[AMR][1000 genomes]
rs6138580	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6138584	0.88[AMR][1000 genomes]
rs6138595	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6138598	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6138599	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6138601	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6138604	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6138611	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6138616	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6138622	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6138623	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6138625	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6138631	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6138633	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6138639	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6138643	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6138647	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6138650	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6138651	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6138653	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs723774	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs878176	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv912831	chr20:25449945-25595868	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2762069	chr20:25506582-25619528	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6132851	FAM182B	cis	Skin Sun Exposed Lower leg	GTEx
rs6132851	PYGB	cis	Whole Blood	GTEx
rs6132851	PYGB	Cis_1M	lymphoblastoid	RTeQTL
rs6132851	GINS1	Cis_1M	lymphoblastoid	RTeQTL
rs6132851	ABHD12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25580200-25603000	Weak transcription	Fetal Brain Male	brain
2	chr20:25581800-25603800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:25582000-25602800	Weak transcription	Osteobl	bone
4	chr20:25586000-25602600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:25586200-25602800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr20:25587000-25603000	Weak transcription	HSMMtube	muscle
7	chr20:25587400-25600400	Weak transcription	K562	blood
8	chr20:25587600-25601400	Weak transcription	Pancreas	Pancrea
9	chr20:25588000-25595600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr20:25588400-25597800	Strong transcription	Dnd41	blood
11	chr20:25588400-25599200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr20:25588600-25596200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr20:25588600-25599400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr20:25588600-25599400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr20:25588600-25602800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr20:25588800-25595800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr20:25589200-25601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:25589200-25602600	Weak transcription	Right Ventricle	heart
19	chr20:25590800-25595400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr20:25590800-25602600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr20:25590800-25603200	Weak transcription	Fetal Intestine Large	intestine
22	chr20:25591000-25595400	Weak transcription	Lung	lung
23	chr20:25591000-25603600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr20:25591200-25595400	Weak transcription	Gastric	stomach
25	chr20:25591400-25602800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr20:25591600-25600200	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr20:25591600-25602800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr20:25591600-25603000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr20:25591600-25603200	Weak transcription	Fetal Lung	lung
30	chr20:25592000-25595400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr20:25592000-25595800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:25592200-25597200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr20:25592200-25602600	Weak transcription	Colon Smooth Muscle	Colon
34	chr20:25592200-25602600	Weak transcription	NHLF	lung
35	chr20:25592200-25602800	Weak transcription	Small Intestine	intestine
36	chr20:25592200-25602800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr20:25592200-25603200	Weak transcription	Brain Germinal Matrix	brain
38	chr20:25592600-25597600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr20:25592600-25602800	Weak transcription	Esophagus	oesophagus
40	chr20:25592600-25603200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr20:25592800-25603200	Weak transcription	Fetal Kidney	kidney
42	chr20:25592800-25603200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr20:25593000-25596400	Weak transcription	NHEK	skin
44	chr20:25593000-25597000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr20:25593000-25597000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr20:25593000-25597000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr20:25593000-25597400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr20:25593000-25597600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr20:25593000-25602800	Weak transcription	NH-A	brain
50	chr20:25593200-25596400	Weak transcription	NHDF-Ad	bronchial

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