Variant report

Variant	rs4734053
Chromosome Location	chr8:103141391-103141392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:103141385-103141576	HepG2	liver:	n/a	chr8:103141515-103141528
2	CEBPB	chr8:103141353-103141682	HepG2	liver:	n/a	chr8:103141515-103141528

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103133340..103138063-chr8:103138855..103142733,4	MCF-7	breast:

Variant related genes	Relation type
NCALD	TF binding region
ENSG00000266756	Chromatin interaction
ENSG00000104490	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10093024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1037701	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10955282	0.85[ASN][1000 genomes]
rs1111911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1148514	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1148515	0.82[ASN][1000 genomes]
rs1148516	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1148517	0.88[ASN][1000 genomes]
rs1148519	0.86[ASN][1000 genomes]
rs1265119	0.85[ASN][1000 genomes]
rs1265122	0.89[ASN][1000 genomes]
rs1265124	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13268773	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547370	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1892965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051274	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs2105615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2387095	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4291239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524263	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6468817	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6468818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6980613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6982041	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6989827	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs6992948	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7000087	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7819114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822831	0.81[ASN][1000 genomes]
rs7826028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297318	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs9942800	0.99[ASN][1000 genomes]
rs9942801	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9942805	0.96[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	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891241	chr8:103079505-103162638	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103140000-103141800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:103140200-103141400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:103140200-103141400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:103140200-103141400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:103140200-103141400	Enhancers	Esophagus	oesophagus
6	chr8:103140200-103141400	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:103140200-103141600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:103140200-103141800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:103140200-103141800	Enhancers	Osteobl	bone
10	chr8:103140200-103142000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:103140200-103142000	Enhancers	Fetal Kidney	kidney
12	chr8:103140200-103142400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:103140400-103141400	Enhancers	HSMM	muscle
14	chr8:103140400-103141400	Enhancers	NH-A	brain
15	chr8:103140400-103141400	Enhancers	NHLF	lung
16	chr8:103140400-103141600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:103140400-103141800	Enhancers	HMEC	breast
18	chr8:103140400-103142000	Enhancers	GM12878-XiMat	blood
19	chr8:103140600-103141400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:103140600-103141400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr8:103140600-103141400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:103140600-103141400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:103140600-103141400	Enhancers	Lung	lung
24	chr8:103140600-103141400	Enhancers	Psoas Muscle	Psoas
25	chr8:103140600-103141600	Flanking Active TSS	NHEK	skin
26	chr8:103140800-103141400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:103140800-103141400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:103140800-103141400	Enhancers	Left Ventricle	heart
29	chr8:103140800-103141400	Enhancers	Right Atrium	heart
30	chr8:103140800-103141400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:103140800-103141600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:103140800-103141800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:103140800-103141800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:103141000-103141400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:103141000-103141400	Enhancers	Placenta	Placenta
36	chr8:103141200-103141400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:103141200-103141400	Enhancers	Adipose Nuclei	Adipose
38	chr8:103141200-103141600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr8:103141200-103142200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:103141200-103142800	Enhancers	NHDF-Ad	bronchial

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