Variant report

Variant	rs58107242
Chromosome Location	chr5:43551223-43551224
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43547644..43550345-chr5:43550491..43552259,2	MCF-7	breast:
2	chr5:43483169..43485499-chr5:43549794..43552040,2	MCF-7	breast:
3	chr5:43482574..43484301-chr5:43550900..43553223,2	K562	blood:
4	chr5:43482801..43486073-chr5:43545843..43553223,8	K562	blood:

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10044743	1.00[ASN][1000 genomes]
rs10051788	1.00[ASN][1000 genomes]
rs10054311	1.00[ASN][1000 genomes]
rs10067571	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10071090	1.00[ASN][1000 genomes]
rs10074298	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10085107	1.00[ASN][1000 genomes]
rs10472384	0.95[AFR][1000 genomes]
rs10473314	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13155023	1.00[ASN][1000 genomes]
rs13357169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16873315	1.00[ASN][1000 genomes]
rs28368979	1.00[ASN][1000 genomes]
rs28412681	1.00[ASN][1000 genomes]
rs28451719	1.00[ASN][1000 genomes]
rs28502686	1.00[ASN][1000 genomes]
rs28710329	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34574158	1.00[ASN][1000 genomes]
rs35748848	1.00[ASN][1000 genomes]
rs36097388	1.00[ASN][1000 genomes]
rs4616901	1.00[ASN][1000 genomes]
rs55721836	1.00[AMR][1000 genomes]
rs56729517	1.00[ASN][1000 genomes]
rs58142433	1.00[ASN][1000 genomes]
rs58622160	1.00[ASN][1000 genomes]
rs58623090	0.95[AFR][1000 genomes]
rs60376053	0.95[AFR][1000 genomes]
rs6897604	1.00[ASN][1000 genomes]
rs71629106	1.00[ASN][1000 genomes]
rs73751088	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73751089	1.00[ASN][1000 genomes]
rs73751704	1.00[ASN][1000 genomes]
rs73751705	1.00[ASN][1000 genomes]
rs73751745	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73751749	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73751779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751782	0.95[AFR][1000 genomes]
rs73754741	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73754743	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7732460	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9292881	1.00[AMR][1000 genomes]
rs9292885	1.00[ASN][1000 genomes]
rs9654395	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
7	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43523200-43551600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:43523200-43551800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:43523200-43552200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:43523400-43553600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:43523400-43554600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:43523600-43554200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:43524000-43555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:43524200-43553600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:43524800-43553600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:43525000-43552400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:43525400-43553400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:43526000-43553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:43526000-43554200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:43527200-43552000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:43527200-43552400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:43527400-43552400	Strong transcription	Hela-S3	cervix
17	chr5:43527400-43554200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:43527600-43553200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:43527600-43554400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr5:43527600-43555600	Strong transcription	Fetal Thymus	thymus
21	chr5:43527600-43556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:43527800-43552400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:43528000-43554800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:43530200-43552000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:43532200-43552200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr5:43532800-43552400	Strong transcription	Fetal Intestine Large	intestine
27	chr5:43532800-43554000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr5:43533000-43551400	Strong transcription	Fetal Lung	lung
29	chr5:43534600-43554400	Weak transcription	Aorta	Aorta
30	chr5:43534800-43554000	Weak transcription	Right Ventricle	heart
31	chr5:43535000-43553600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:43538000-43553600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:43538800-43551600	Strong transcription	HepG2	liver
34	chr5:43538800-43554600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:43539800-43554200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:43540000-43552200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:43541000-43554200	Weak transcription	Stomach Mucosa	stomach
38	chr5:43542800-43552200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:43542800-43556000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:43542800-43556000	Weak transcription	Esophagus	oesophagus
41	chr5:43543000-43551400	Strong transcription	Brain Anterior Caudate	brain
42	chr5:43543800-43552600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:43544400-43554200	Strong transcription	Primary B cells from cord blood	blood
44	chr5:43544400-43554200	Strong transcription	NHLF	lung
45	chr5:43547000-43552600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:43547200-43552200	Weak transcription	NHEK	skin
47	chr5:43547600-43555200	Weak transcription	Colonic Mucosa	Colon
48	chr5:43547800-43552200	Weak transcription	Brain Substantia Nigra	brain
49	chr5:43547800-43552200	Weak transcription	Fetal Brain Male	brain
50	chr5:43547800-43552200	Weak transcription	Psoas Muscle	Psoas

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