Variant report

Variant	rs73475938
Chromosome Location	chr7:139484445-139484446
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139475001..139479565-chr7:139480473..139485413,11	MCF-7	breast:
2	chr7:139482277..139484692-chr7:139485381..139489317,3	K562	blood:
3	chr7:139482292..139484448-chr7:139484570..139486838,2	MCF-7	breast:
4	chr7:139322765..139325332-chr7:139481736..139485156,3	K562	blood:
5	chr7:139482029..139485072-chr7:139486625..139490508,3	MCF-7	breast:
6	chr7:139475082..139481855-chr7:139484359..139490017,8	K562	blood:

Variant related genes	Relation type
ENSG00000064393	Chromatin interaction
ENSG00000059377	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73475931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73475941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73475976	0.93[AFR][1000 genomes]
rs73475985	0.97[AFR][1000 genomes]
rs73475988	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139478600-139485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:139478800-139485600	Weak transcription	Aorta	Aorta
3	chr7:139479000-139497400	Weak transcription	NH-A	brain
4	chr7:139480200-139490000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:139480800-139489200	Weak transcription	Thymus	Thymus
6	chr7:139481800-139484600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:139482000-139485600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:139482400-139485000	Enhancers	NHEK	skin
9	chr7:139482800-139485000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:139483000-139484600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:139483000-139485000	Enhancers	HMEC	breast
12	chr7:139483200-139484800	Enhancers	A549	lung
13	chr7:139483200-139485200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:139483200-139485200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:139483200-139485200	Enhancers	Stomach Mucosa	stomach
16	chr7:139483400-139484800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:139483400-139485200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr7:139483400-139488200	Weak transcription	Esophagus	oesophagus
19	chr7:139483400-139497600	Weak transcription	Fetal Kidney	kidney
20	chr7:139483600-139485000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:139483600-139492000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:139483800-139484800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:139483800-139485000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr7:139483800-139490800	Weak transcription	HepG2	liver
25	chr7:139484200-139485200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:139484400-139485200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:139484400-139485800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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