Variant report

Variant	rs28588623
Chromosome Location	chr3:158553639-158553640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:158552403..158553952-chr3:158554364..158557250,2	K562	blood:
2	chr3:158544882..158547801-chr3:158551051..158553794,3	MCF-7	breast:
3	chr3:158552150..158554007-chr3:158577726..158580202,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs13316352	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13318372	0.89[ASN][1000 genomes]
rs1870830	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28385458	0.84[ASN][1000 genomes]
rs28414018	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs41272623	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4679839	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4680469	0.95[EUR][1000 genomes]
rs6765511	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6769289	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs727569	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73158379	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73158380	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7613052	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7651532	0.81[ASN][1000 genomes]
rs9866172	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9873741	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9882471	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9990398	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv532665	chr3:158370013-158754245	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv948755	chr3:158388780-158672287	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv877692	chr3:158430706-158828643	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1001450	chr3:158440011-158768399	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536777	chr3:158440011-158768399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv877693	chr3:158470321-158583004	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1006146	chr3:158475824-158625778	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv592123	chr3:158477796-158625128	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
13	nsv1002514	chr3:158484027-158673414	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv536778	chr3:158484027-158673414	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv1014511	chr3:158516495-158715240	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr3:158527800-158554000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:158532400-158557800	Weak transcription	Gastric	stomach
3	chr3:158533000-158556400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:158533000-158559600	Weak transcription	Right Ventricle	heart
5	chr3:158541800-158554200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:158541800-158555000	Weak transcription	Spleen	Spleen
7	chr3:158541800-158560200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:158542000-158556400	Weak transcription	Brain Germinal Matrix	brain
9	chr3:158542200-158561000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:158542400-158553800	Weak transcription	Fetal Brain Female	brain
11	chr3:158542600-158558000	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:158543600-158555200	Weak transcription	Esophagus	oesophagus
13	chr3:158544000-158556200	Weak transcription	Small Intestine	intestine
14	chr3:158546400-158565200	Weak transcription	Osteobl	bone
15	chr3:158548600-158554600	Weak transcription	Fetal Lung	lung
16	chr3:158548600-158554800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:158548600-158555400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr3:158548600-158559000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:158548600-158569400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:158548600-158571200	Weak transcription	Pancreas	Pancrea
21	chr3:158548800-158555000	Weak transcription	Psoas Muscle	Psoas
22	chr3:158548800-158563800	Weak transcription	Brain Anterior Caudate	brain
23	chr3:158548800-158576400	Weak transcription	Left Ventricle	heart
24	chr3:158549800-158564800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:158550200-158586600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr3:158550600-158554600	Weak transcription	Liver	Liver
27	chr3:158550600-158556800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:158550800-158553800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:158550800-158555200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:158550800-158562000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:158550800-158565200	Weak transcription	Primary T cells from cord blood	blood
32	chr3:158551000-158559000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr3:158551000-158565400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:158551200-158561000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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