Variant report

Variant	rs2954022
Chromosome Location	chr8:126482621-126482622
allele	A/C
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: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10808546	0.86[EUR][1000 genomes]
rs17321515	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2001844	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2001846	0.92[ASN][1000 genomes]
rs2001945	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2954017	0.88[ASN][1000 genomes]
rs2954019	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2954021	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2954029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2954031	0.96[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2980853	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2980854	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2980855	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2980856	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2980860	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980868	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2980869	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2980871	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2980875	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2980882	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2980886	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6982502	0.92[ASN][1000 genomes]
rs6982636	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6999569	0.86[AMR][1000 genomes];0.94[EUR][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

No data

Chromatin state (count:53 , 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	chr8:126479400-126483000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:126479400-126483400	Enhancers	Fetal Kidney	kidney
5	chr8:126479400-126487400	Weak transcription	Liver	Liver
6	chr8:126479400-126489200	Weak transcription	Pancreas	Pancrea
7	chr8:126479600-126482800	Weak transcription	NHLF	lung
8	chr8:126479600-126483200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:126479800-126483000	Weak transcription	NHEK	skin
10	chr8:126480400-126483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:126480600-126482800	Enhancers	Fetal Intestine Small	intestine
12	chr8:126480600-126483200	Enhancers	Fetal Muscle Leg	muscle
13	chr8:126480800-126482800	Enhancers	Placenta	Placenta
14	chr8:126481200-126483200	Enhancers	Adipose Nuclei	Adipose
15	chr8:126481200-126483200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:126481400-126483000	Enhancers	Fetal Muscle Trunk	muscle
17	chr8:126481400-126483000	Enhancers	Right Atrium	heart
18	chr8:126481400-126483200	Enhancers	Left Ventricle	heart
19	chr8:126481400-126483200	Enhancers	Psoas Muscle	Psoas
20	chr8:126481400-126483400	Enhancers	Fetal Lung	lung
21	chr8:126481600-126483000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:126481800-126484000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:126482000-126484200	Weak transcription	K562	blood
24	chr8:126482400-126483000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:126482400-126483000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:126482400-126483000	Enhancers	Ovary	ovary
27	chr8:126482400-126483200	Enhancers	Fetal Heart	heart
28	chr8:126482400-126483200	Enhancers	Fetal Stomach	stomach
29	chr8:126482400-126483200	Enhancers	HSMMtube	muscle
30	chr8:126482400-126483200	Enhancers	HUVEC	blood vessel
31	chr8:126482400-126483400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:126482600-126483000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:126482600-126483000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr8:126482600-126483000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:126482600-126483000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:126482600-126483000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr8:126482600-126483000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:126482600-126483000	Enhancers	Fetal Brain Female	brain
39	chr8:126482600-126483000	Enhancers	Lung	lung
40	chr8:126482600-126483000	Enhancers	Right Ventricle	heart
41	chr8:126482600-126483000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr8:126482600-126483000	Enhancers	Osteobl	bone
43	chr8:126482600-126483200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr8:126482600-126483200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:126482600-126483200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:126482600-126483200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr8:126482600-126483200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:126482600-126483200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:126482600-126483200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:126482600-126483400	Enhancers	Hela-S3	cervix

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