Variant report

Variant	rs55826011
Chromosome Location	chr7:139482788-139482789
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	chr7:139482165..139483994-chr7:139673207..139675831,2	K562	blood:
7	chr7:139482695..139484256-chr7:139496292..139498797,2	K562	blood:

Variant related genes	Relation type
ENSG00000059377	Chromatin interaction
ENSG00000064393	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1015121	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1106768	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12155449	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12374779	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12374780	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17177103	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17177358	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17177953	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17262390	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17262662	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17262676	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56079671	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs61054086	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6967634	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73735624	0.88[EUR][1000 genomes]
rs740818	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7793114	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7798740	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139478600-139483000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:139478600-139483400	Weak transcription	Gastric	stomach
3	chr7:139478600-139485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:139478800-139483000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:139478800-139485600	Weak transcription	Aorta	Aorta
6	chr7:139479000-139497400	Weak transcription	NH-A	brain
7	chr7:139479200-139483000	Weak transcription	Liver	Liver
8	chr7:139479200-139483000	Weak transcription	Brain Substantia Nigra	brain
9	chr7:139479200-139483000	Weak transcription	Fetal Kidney	kidney
10	chr7:139479200-139483200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:139479200-139483200	Weak transcription	Stomach Mucosa	stomach
12	chr7:139479200-139483200	Weak transcription	A549	lung
13	chr7:139479200-139483400	Weak transcription	Brain Anterior Caudate	brain
14	chr7:139479400-139483000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:139479400-139483200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:139479400-139483400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr7:139479800-139483000	Weak transcription	HMEC	breast
18	chr7:139479800-139483400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:139480200-139490000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:139480600-139483200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr7:139480800-139482800	Enhancers	HepG2	liver
22	chr7:139480800-139489200	Weak transcription	Thymus	Thymus
23	chr7:139481000-139482800	Weak transcription	Adipose Nuclei	Adipose
24	chr7:139481800-139484600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:139482000-139483200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:139482000-139485600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:139482200-139482800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:139482200-139482800	Enhancers	K562	blood
29	chr7:139482400-139482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:139482400-139483600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:139482400-139483800	Enhancers	Fetal Thymus	thymus
32	chr7:139482400-139485000	Enhancers	NHEK	skin
33	chr7:139482600-139483200	Weak transcription	Esophagus	oesophagus
34	chr7:139482600-139484400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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