Variant report

Variant	rs2980879
Chromosome Location	chr8:126481475-126481476
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126481379..126484101-chr8:126487149..126489863,2	MCF-7	breast:
2	chr8:126442656..126444705-chr8:126481223..126483449,2	MCF-7	breast:
3	chr8:126479603..126481844-chr8:126494659..126497363,2	K562	blood:
4	chr8:126479289..126481809-chr8:126483424..126485504,2	K562	blood:
5	chr8:126479289..126481809-chr8:126483424..126485504,3	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2001845	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954018	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954021	0.92[YRI][hapmap];0.90[AFR][1000 genomes]
rs2954025	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2954026	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954028	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954030	0.89[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2954032	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2954033	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2954038	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2980858	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980859	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980862	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980867	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980878	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980888	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4336630	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4351435	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871603	0.93[ASN][1000 genomes]
rs7828113	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7846466	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Adiponectin levels	22479202	GWAS catalog

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126476600-126483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:126477400-126485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:126479200-126482600	Weak transcription	Fetal Brain Female	brain
4	chr8:126479400-126481800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:126479400-126482400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:126479400-126482400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:126479400-126482400	Weak transcription	Fetal Stomach	stomach
8	chr8:126479400-126482400	Weak transcription	Ovary	ovary
9	chr8:126479400-126482600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:126479400-126482600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:126479400-126482600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:126479400-126482600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:126479400-126483000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:126479400-126483400	Enhancers	Fetal Kidney	kidney
15	chr8:126479400-126487400	Weak transcription	Liver	Liver
16	chr8:126479400-126489200	Weak transcription	Pancreas	Pancrea
17	chr8:126479600-126482400	Weak transcription	Fetal Heart	heart
18	chr8:126479600-126482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr8:126479600-126482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:126479600-126482600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:126479600-126482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:126479600-126482600	Weak transcription	Right Ventricle	heart
23	chr8:126479600-126482600	Weak transcription	A549	lung
24	chr8:126479600-126482600	Weak transcription	NH-A	brain
25	chr8:126479600-126482600	Weak transcription	Osteobl	bone
26	chr8:126479600-126482800	Weak transcription	NHLF	lung
27	chr8:126479600-126483200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr8:126479800-126482400	Weak transcription	HUVEC	blood vessel
29	chr8:126479800-126483000	Weak transcription	NHEK	skin
30	chr8:126480400-126483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr8:126480600-126481800	Enhancers	HepG2	liver
32	chr8:126480600-126482800	Enhancers	Fetal Intestine Small	intestine
33	chr8:126480600-126483200	Enhancers	Fetal Muscle Leg	muscle
34	chr8:126480800-126482600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr8:126480800-126482800	Enhancers	Placenta	Placenta
36	chr8:126481000-126482600	Weak transcription	Hela-S3	cervix
37	chr8:126481200-126481600	Enhancers	Primary hematopoietic stem cells	blood
38	chr8:126481200-126481600	Enhancers	Lung	lung
39	chr8:126481200-126482000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:126481200-126482000	Enhancers	K562	blood
41	chr8:126481200-126482200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:126481200-126483200	Enhancers	Adipose Nuclei	Adipose
43	chr8:126481200-126483200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr8:126481400-126481600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr8:126481400-126481600	Enhancers	Duodenum Mucosa	Duodenum
46	chr8:126481400-126482600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:126481400-126483000	Enhancers	Fetal Muscle Trunk	muscle
48	chr8:126481400-126483000	Enhancers	Right Atrium	heart
49	chr8:126481400-126483200	Enhancers	Left Ventricle	heart
50	chr8:126481400-126483200	Enhancers	Psoas Muscle	Psoas

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