Variant report

Variant	rs28522052
Chromosome Location	chr4:87891787-87891788
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87885535..87895894-chr4:87923652..87929924,15	K562	blood:
2	chr4:87890335..87892797-chr4:87926492..87928312,3	MCF-7	breast:
3	chr4:87853531..87856106-chr4:87889167..87893034,3	K562	blood:
4	chr4:87885386..87887913-chr4:87890283..87891945,2	MCF-7	breast:
5	chr4:87891330..87894052-chr4:87927164..87929617,3	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12506662	0.87[ASN][1000 genomes]
rs17012186	0.92[ASN][1000 genomes]
rs1992876	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2869632	0.99[ASN][1000 genomes]
rs2904151	0.99[ASN][1000 genomes]
rs61586576	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67773101	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6836128	0.85[ASN][1000 genomes]
rs725030	0.96[ASN][1000 genomes]
rs7671931	0.87[ASN][1000 genomes]
rs7693780	0.96[ASN][1000 genomes]
rs7693889	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996533	0.87[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	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87868400-87891800	Weak transcription	Esophagus	oesophagus
2	chr4:87868600-87898000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:87869800-87894000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:87872600-87926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:87881000-87891800	Weak transcription	Lung	lung
6	chr4:87881000-87897600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:87882000-87895400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:87882200-87895600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:87882400-87893800	Weak transcription	Colonic Mucosa	Colon
10	chr4:87882400-87898600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:87882600-87920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:87882800-87912400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:87883000-87891800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:87883800-87891800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:87883800-87891800	Weak transcription	Fetal Intestine Large	intestine
16	chr4:87883800-87894200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:87884200-87893800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:87884200-87894000	Weak transcription	Fetal Intestine Small	intestine
19	chr4:87885000-87891800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:87885000-87894200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:87885000-87894200	Weak transcription	HMEC	breast
22	chr4:87886600-87898600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:87886800-87891800	Weak transcription	Fetal Heart	heart
24	chr4:87886800-87894200	Weak transcription	Hela-S3	cervix
25	chr4:87887000-87891800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:87887000-87892600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:87887400-87891800	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:87887400-87891800	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:87887800-87891800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:87888000-87893400	Enhancers	HUVEC	blood vessel
31	chr4:87888200-87895800	Weak transcription	Primary T cells from cord blood	blood
32	chr4:87888400-87891800	Weak transcription	Right Atrium	heart
33	chr4:87888400-87895000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:87888600-87892400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:87888600-87893400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:87888600-87893400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:87888800-87891800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:87888800-87891800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:87888800-87898800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:87889200-87891800	Weak transcription	Spleen	Spleen
41	chr4:87889200-87894000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:87889200-87894200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:87889200-87895400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr4:87889400-87894200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:87889800-87891800	Weak transcription	K562	blood
46	chr4:87889800-87892000	Weak transcription	Right Ventricle	heart
47	chr4:87889800-87892400	Weak transcription	Fetal Kidney	kidney
48	chr4:87889800-87893400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr4:87889800-87893800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:87890000-87891800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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