Variant report

Variant	rs592423
Chromosome Location	chr6:139840693-139840694
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:139694358..139697145-chr6:139839945..139841610,2	K562	blood:
2	chr6:139694852..139697145-chr6:139839945..139841957,2	K562	blood:
3	chr6:139840112..139841648-chr6:139848292..139851114,2	K562	blood:
4	chr6:139840112..139843143-chr6:139848292..139853200,4	K562	blood:
5	chr6:139799364..139800954-chr6:139840362..139842649,2	K562	blood:
6	chr6:139839378..139842332-chr6:139842713..139845287,3	K562	blood:
7	chr6:139839895..139841964-chr6:139850103..139851737,2	MCF-7	breast:
8	chr6:139694119..139695948-chr6:139839491..139841581,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11155072	0.85[ASN][1000 genomes]
rs11155073	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17513809	0.82[ASN][1000 genomes]
rs17585887	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17585915	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2908522	0.81[ASN][1000 genomes]
rs2982521	0.84[ASN][1000 genomes]
rs3861397	0.84[ASN][1000 genomes]
rs4896468	0.87[ASN][1000 genomes]
rs589235	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs590856	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[YRI][hapmap];0.94[EUR][1000 genomes]
rs605066	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60562771	0.81[ASN][1000 genomes]
rs607342	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs608736	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs628751	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs632057	0.88[CHB][hapmap];0.84[CHD][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs634869	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs635243	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs635769	0.85[ASN][1000 genomes]
rs636202	0.85[CEU][hapmap];0.88[CHB][hapmap];0.85[EUR][1000 genomes]
rs643381	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs651837	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs654689	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs668459	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs672457	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs679582	0.85[ASN][1000 genomes]
rs72976928	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Adiponectin levels	22479202	GWAS catalog

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs592423	GPR126	cis	parietal	SCAN
rs592423	VTA1	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139832000-139855200	Weak transcription	Right Atrium	heart
2	chr6:139837000-139843600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:139837000-139843600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:139837000-139843600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:139837000-139843600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:139837200-139840800	Weak transcription	Adipose Nuclei	Adipose
7	chr6:139838000-139841000	Weak transcription	HMEC	breast
8	chr6:139838000-139844000	Weak transcription	Hela-S3	cervix
9	chr6:139838200-139841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:139838400-139840800	Weak transcription	Stomach Mucosa	stomach
11	chr6:139838800-139841600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:139839600-139842000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr6:139839800-139840800	Enhancers	Pancreas	Pancrea
14	chr6:139839800-139841600	Flanking Active TSS	K562	blood
15	chr6:139839800-139842000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:139840000-139840800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:139840000-139841400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:139840000-139842600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:139840400-139840800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:139840400-139841200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:139840400-139841400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr6:139840400-139841600	Flanking Active TSS	Fetal Heart	heart
23	chr6:139840400-139841600	Enhancers	HSMMtube	muscle
24	chr6:139840400-139844400	Enhancers	NHEK	skin
25	chr6:139840400-139844800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:139840600-139840800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:139840600-139840800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:139840600-139841000	Enhancers	Colon Smooth Muscle	Colon
29	chr6:139840600-139841200	Enhancers	Ovary	ovary
30	chr6:139840600-139841400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:139840600-139841400	Enhancers	Fetal Muscle Leg	muscle
32	chr6:139840600-139841400	Enhancers	Lung	lung
33	chr6:139840600-139841400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:139840600-139841400	Enhancers	Osteobl	bone
35	chr6:139840600-139841600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:139840600-139841600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:139840600-139841600	Enhancers	Placenta	Placenta
38	chr6:139840600-139841600	Enhancers	HSMM	muscle
39	chr6:139840600-139841800	Enhancers	NHDF-Ad	bronchial

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