Variant report

Variant	rs2954021
Chromosome Location	chr8:126482077-126482078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126481379..126484101-chr8:126487149..126489863,2	MCF-7	breast:
2	chr8:126442656..126444705-chr8:126481223..126483449,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17321515	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2001844	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2001846	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2001945	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2954017	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2954019	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs2954020	0.92[YRI][hapmap];0.90[AFR][1000 genomes]
rs2954022	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2954029	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2954031	0.86[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs2980853	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980854	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs2980855	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs2980856	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs2980860	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980868	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2980869	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2980871	0.82[CEU][hapmap]
rs2980875	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2980879	0.92[YRI][hapmap];0.90[AFR][1000 genomes]
rs2980880	0.90[AFR][1000 genomes]
rs2980882	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980886	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6982502	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6982636	0.81[EUR][1000 genomes];0.92[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:3)

Disease	PMID	Source
Liver enzyme levels (alkaline phosphatase)	22001757	GWAS catalog
Liver enzyme levels (alanine transaminase)	22001757	GWAS catalog
LDL cholesterol	20864672	GWAS catalog

Chromatin state (count:48 , 50 per page) page: 1

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	chr8:126479400-126482400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:126479400-126482400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:126479400-126482400	Weak transcription	Fetal Stomach	stomach
7	chr8:126479400-126482400	Weak transcription	Ovary	ovary
8	chr8:126479400-126482600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:126479400-126482600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:126479400-126482600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:126479400-126482600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:126479400-126483000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:126479400-126483400	Enhancers	Fetal Kidney	kidney
14	chr8:126479400-126487400	Weak transcription	Liver	Liver
15	chr8:126479400-126489200	Weak transcription	Pancreas	Pancrea
16	chr8:126479600-126482400	Weak transcription	Fetal Heart	heart
17	chr8:126479600-126482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:126479600-126482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:126479600-126482600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:126479600-126482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:126479600-126482600	Weak transcription	Right Ventricle	heart
22	chr8:126479600-126482600	Weak transcription	A549	lung
23	chr8:126479600-126482600	Weak transcription	NH-A	brain
24	chr8:126479600-126482600	Weak transcription	Osteobl	bone
25	chr8:126479600-126482800	Weak transcription	NHLF	lung
26	chr8:126479600-126483200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:126479800-126482400	Weak transcription	HUVEC	blood vessel
28	chr8:126479800-126483000	Weak transcription	NHEK	skin
29	chr8:126480400-126483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:126480600-126482800	Enhancers	Fetal Intestine Small	intestine
31	chr8:126480600-126483200	Enhancers	Fetal Muscle Leg	muscle
32	chr8:126480800-126482600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr8:126480800-126482800	Enhancers	Placenta	Placenta
34	chr8:126481000-126482600	Weak transcription	Hela-S3	cervix
35	chr8:126481200-126482200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:126481200-126483200	Enhancers	Adipose Nuclei	Adipose
37	chr8:126481200-126483200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr8:126481400-126482600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:126481400-126483000	Enhancers	Fetal Muscle Trunk	muscle
40	chr8:126481400-126483000	Enhancers	Right Atrium	heart
41	chr8:126481400-126483200	Enhancers	Left Ventricle	heart
42	chr8:126481400-126483200	Enhancers	Psoas Muscle	Psoas
43	chr8:126481400-126483400	Enhancers	Fetal Lung	lung
44	chr8:126481600-126482600	Weak transcription	Lung	lung
45	chr8:126481600-126483000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:126481800-126482200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr8:126481800-126484000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:126482000-126484200	Weak transcription	K562	blood

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