Variant report

Variant	rs2954026
Chromosome Location	chr8:126484526-126484527
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126479289..126481809-chr8:126483424..126485504,2	K562	blood:
2	chr8:126479289..126481809-chr8:126483424..126485504,3	K562	blood:
3	chr8:126439120..126443279-chr8:126483208..126489107,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2001845	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954018	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954020	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]
rs2954025	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2954028	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2954030	0.86[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2954032	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2954033	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2954038	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2980858	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980859	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980862	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980867	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980878	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980879	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]
rs2980880	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980888	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4336630	0.93[ASN][1000 genomes]
rs4351435	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4871603	0.93[ASN][1000 genomes]
rs7828113	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7846466	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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
HDL Cholesterol - Triglycerides (HDLC-TG)	21386085	GWAS catalog

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126477400-126485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:126479400-126487400	Weak transcription	Liver	Liver
3	chr8:126479400-126489200	Weak transcription	Pancreas	Pancrea
4	chr8:126482800-126487000	Weak transcription	Placenta	Placenta
5	chr8:126483000-126484600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:126483000-126486000	Weak transcription	Lung	lung
7	chr8:126483000-126487400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:126483000-126489400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:126483000-126498200	Weak transcription	Right Atrium	heart
10	chr8:126483200-126486400	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:126483200-126486800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:126483200-126487000	Weak transcription	Adipose Nuclei	Adipose
13	chr8:126483200-126487200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:126483200-126487600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:126483200-126489000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:126483200-126489400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:126483400-126485600	Weak transcription	NH-A	brain
18	chr8:126483400-126485800	Weak transcription	Fetal Kidney	kidney
19	chr8:126483400-126486000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:126483400-126487000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:126483400-126496600	Weak transcription	Hela-S3	cervix
22	chr8:126483800-126485400	Weak transcription	A549	lung
23	chr8:126484000-126485600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:126484200-126485800	Weak transcription	HMEC	breast
25	chr8:126484200-126485800	Weak transcription	NHEK	skin
26	chr8:126484400-126486000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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