Variant report

Variant	rs58263911
Chromosome Location	chr7:139948484-139948485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139944677..139947328-chr7:139947657..139949736,2	K562	blood:
2	chr7:139873036..139876332-chr7:139948106..139949713,3	K562	blood:
3	chr7:139940812..139943469-chr7:139946696..139949074,4	K562	blood:

Variant related genes	Relation type
ENSG00000199283	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12672589	0.83[EUR][1000 genomes]
rs17161447	0.87[EUR][1000 genomes]
rs58599202	1.00[EUR][1000 genomes]
rs61580118	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464620	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6943904	0.86[EUR][1000 genomes]
rs6944218	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6944258	0.97[EUR][1000 genomes]
rs73473567	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73473571	0.92[EUR][1000 genomes]
rs73473582	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73473584	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7787388	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788443	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799803	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1015840	chr7:139912355-139987681	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139939800-139953400	Weak transcription	Lung	lung
2	chr7:139941800-139953400	Weak transcription	Small Intestine	intestine
3	chr7:139942600-139950600	Weak transcription	Placenta	Placenta
4	chr7:139943600-139950600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:139943800-139948800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:139944000-139959400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:139944800-139948800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:139944800-139951800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:139944800-139953200	Weak transcription	Stomach Mucosa	stomach
10	chr7:139947400-139952800	Enhancers	HepG2	liver
11	chr7:139947600-139948800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:139947800-139953000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:139948000-139949000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr7:139948200-139949400	Enhancers	Fetal Intestine Large	intestine
15	chr7:139948200-139949400	Enhancers	Fetal Intestine Small	intestine
16	chr7:139948200-139950000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:139948200-139953000	Weak transcription	Brain Anterior Caudate	brain
18	chr7:139948400-139948600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:139948400-139948800	Enhancers	Liver	Liver
20	chr7:139948400-139953000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:139948400-139955200	Enhancers	Primary monocytes fromperipheralblood	blood

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