Variant report

Variant	rs28530639
Chromosome Location	chr7:139497685-139497686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139490500..139493379-chr7:139496695..139499079,2	K562	blood:
2	chr7:139490458..139492000-chr7:139496695..139498330,2	K562	blood:
3	chr7:139482695..139484256-chr7:139496292..139498797,2	K562	blood:
4	chr7:139496148..139499029-chr7:139499477..139502002,2	K562	blood:
5	chr7:139495484..139499018-chr7:139500374..139502989,3	K562	blood:
6	chr7:139485093..139487934-chr7:139493683..139497739,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10248066	0.89[AMR][1000 genomes]
rs17161128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28714444	0.81[AFR][1000 genomes]
rs55700662	0.85[AFR][1000 genomes]
rs56086211	0.88[AFR][1000 genomes]
rs60258209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947792	0.88[AFR][1000 genomes]
rs6950459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6954520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735619	0.86[AFR][1000 genomes]
rs73735622	0.86[AFR][1000 genomes]
rs73735623	0.86[AFR][1000 genomes]
rs73735625	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73735628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv464732	chr7:139424022-139654256	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv608472	chr7:139424022-139654256	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1018712	chr7:139429703-139658014	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv464733	chr7:139491967-139539218	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv608473	chr7:139491967-139539218	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139484800-139499000	Weak transcription	A549	lung
2	chr7:139485000-139497800	Weak transcription	NHEK	skin
3	chr7:139485000-139498000	Weak transcription	HMEC	breast
4	chr7:139485000-139502200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:139485800-139499600	Weak transcription	Aorta	Aorta
6	chr7:139488600-139498000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:139488800-139498400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:139489400-139498000	Weak transcription	Esophagus	oesophagus
9	chr7:139489400-139502600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:139492000-139498000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:139497000-139498000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:139497000-139498200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:139497000-139498400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:139497200-139497800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:139497200-139498400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:139497400-139497800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:139497400-139497800	Enhancers	NH-A	brain
18	chr7:139497400-139498200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:139497400-139498400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:139497400-139498400	Enhancers	HSMMtube	muscle
21	chr7:139497600-139498600	Enhancers	Fetal Kidney	kidney
22	chr7:139497600-139499800	Weak transcription	Left Ventricle	heart
23	chr7:139497600-139503400	Weak transcription	Fetal Stomach	stomach

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