Variant report

Variant	rs59686482
Chromosome Location	chr7:139539074-139539075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139477083..139479483-chr7:139538319..139540657,2	K562	blood:
2	chr7:139529269..139531920-chr7:139536482..139539397,2	MCF-7	breast:
3	chr7:139538171..139540494-chr7:139550630..139553046,2	K562	blood:

Variant related genes	Relation type
ENSG00000064393	Chromatin interaction
ENSG00000059377	Chromatin interaction

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

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

rs_ID	r²[population]
rs10215460	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235490	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261500	1.00[AMR][1000 genomes]
rs10262064	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271046	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279720	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28377901	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56095009	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57376594	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58946576	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59027682	1.00[AMR][1000 genomes]
rs73733506	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73733509	0.87[AMR][1000 genomes]
rs73733578	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	esv1804134	chr7:139528662-139539855	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv831156	chr7:139532318-139694326	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139531200-139542000	Weak transcription	Right Atrium	heart
2	chr7:139531400-139540400	Weak transcription	Thymus	Thymus
3	chr7:139531400-139542200	Weak transcription	Spleen	Spleen
4	chr7:139531400-139544600	Weak transcription	Gastric	stomach
5	chr7:139531400-139553800	Weak transcription	Primary T cells from cord blood	blood
6	chr7:139531400-139572600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:139531600-139542400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:139532000-139540600	Weak transcription	Esophagus	oesophagus
9	chr7:139533200-139540000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:139537000-139540000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:139537600-139539200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:139537800-139539200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:139537800-139539400	Enhancers	Fetal Lung	lung
14	chr7:139537800-139539600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr7:139538000-139540400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:139538000-139541800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:139538200-139540600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr7:139538400-139539400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:139538400-139541800	Weak transcription	GM12878-XiMat	blood
20	chr7:139538600-139540200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:139538600-139541400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:139538800-139540600	Strong transcription	Primary monocytes fromperipheralblood	blood

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