Variant report

Variant	rs7014053
Chromosome Location	chr8:119121535-119121536
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119112265..119114853-chr8:119117703..119122505,4	K562	blood:
2	chr8:118875598..118876393-chr8:119120271..119121636,4	MCF-7	breast:
3	chr8:119120329..119122682-chr8:119122926..119125583,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10755915	1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10808492	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10808494	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10955855	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10955856	0.91[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12548404	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12675013	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13270513	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs1811528	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3757991	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4876400	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4876791	0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469721	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6469722	0.83[ASN][1000 genomes]
rs6991511	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6993268	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7008536	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7010382	1.00[CEU][hapmap];0.96[CHB][hapmap];0.87[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7011384	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7818011	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7835605	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7835956	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7837824	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs897828	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs897830	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv891412	chr8:119107051-119139385	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119117200-119123000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:119117200-119123000	Transcr. at gene 5' and 3'	Osteobl	bone
3	chr8:119117400-119123000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:119118200-119121800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:119118800-119122000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:119118800-119124800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:119118800-119125000	Active TSS	Aorta	Aorta
8	chr8:119119000-119122000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:119119000-119124600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr8:119119000-119125000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr8:119119400-119121600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:119119400-119122000	Active TSS	Ovary	ovary
13	chr8:119119400-119122800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:119119400-119123000	Flanking Active TSS	Hela-S3	cervix
15	chr8:119119400-119123200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:119119400-119123200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr8:119119600-119122000	Active TSS	Fetal Muscle Trunk	muscle
18	chr8:119119600-119122800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:119119600-119123400	Flanking Active TSS	Dnd41	blood
20	chr8:119119800-119122600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:119119800-119124600	Active TSS	Brain Angular Gyrus	brain
22	chr8:119120000-119121600	Active TSS	HepG2	liver
23	chr8:119120000-119125000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:119120200-119121600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr8:119120200-119121800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr8:119120200-119121800	Active TSS	Stomach Smooth Muscle	stomach
27	chr8:119120200-119121800	Active TSS	NHEK	skin
28	chr8:119120200-119122000	Active TSS	Fetal Lung	lung
29	chr8:119120200-119122200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:119120200-119122200	Active TSS	Liver	Liver
31	chr8:119120200-119122200	Active TSS	Lung	lung
32	chr8:119120200-119122200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr8:119120200-119122400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr8:119120200-119122800	Active TSS	Muscle Satellite Cultured Cells	--
35	chr8:119120200-119124400	Active TSS	NH-A	brain
36	chr8:119120200-119124600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:119120200-119124600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:119120200-119124600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:119120200-119124600	Active TSS	Colonic Mucosa	Colon
40	chr8:119120200-119124600	Active TSS	Fetal Intestine Large	intestine
41	chr8:119120200-119124600	Active TSS	Fetal Stomach	stomach
42	chr8:119120200-119124600	Active TSS	HSMM	muscle
43	chr8:119120200-119124800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr8:119120200-119124800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr8:119120200-119124800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:119120200-119124800	Active TSS	Right Atrium	heart
47	chr8:119120200-119124800	Active TSS	Right Ventricle	heart
48	chr8:119120200-119124800	Active TSS	HSMMtube	muscle
49	chr8:119120400-119121800	Active TSS	Fetal Intestine Small	intestine
50	chr8:119120400-119124600	Active TSS	Rectal Smooth Muscle	rectum

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