Variant report

Variant	rs67581152
Chromosome Location	chr5:43550762-43550763
allele	C/T
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	chr5:43482801..43486073-chr5:43545843..43553223,8	K562	blood:

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10036954	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10038608	0.81[EUR][1000 genomes]
rs10042992	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10045455	0.82[EUR][1000 genomes]
rs10053229	0.86[ASN][1000 genomes]
rs10058558	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10059912	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10059993	0.85[ASN][1000 genomes]
rs10061165	0.82[EUR][1000 genomes]
rs10065689	0.85[ASN][1000 genomes]
rs10066408	0.86[ASN][1000 genomes]
rs10068064	0.86[ASN][1000 genomes]
rs10074682	0.81[EUR][1000 genomes]
rs10462051	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10473311	0.83[EUR][1000 genomes]
rs10941640	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11949083	0.88[ASN][1000 genomes]
rs11952832	0.80[ASN][1000 genomes]
rs11958046	0.88[ASN][1000 genomes]
rs12332560	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12521249	0.98[ASN][1000 genomes]
rs12651879	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12652547	0.86[EUR][1000 genomes]
rs12659369	0.81[EUR][1000 genomes]
rs12697457	0.98[ASN][1000 genomes]
rs13185343	0.82[EUR][1000 genomes]
rs13189004	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13189484	0.89[ASN][1000 genomes]
rs13359906	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1366410	0.83[ASN][1000 genomes]
rs2132000	0.82[EUR][1000 genomes]
rs2172763	0.81[EUR][1000 genomes]
rs28437972	0.94[ASN][1000 genomes]
rs28606458	0.84[ASN][1000 genomes]
rs34007811	0.85[EUR][1000 genomes]
rs35710460	0.85[EUR][1000 genomes]
rs35881272	0.91[EUR][1000 genomes]
rs36013953	0.89[EUR][1000 genomes]
rs3776423	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4072918	0.94[ASN][1000 genomes]
rs4072919	0.94[ASN][1000 genomes]
rs4073848	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4073850	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4073851	0.87[EUR][1000 genomes]
rs4074777	0.86[ASN][1000 genomes]
rs4308491	0.81[EUR][1000 genomes]
rs4331909	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4367306	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4386738	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4415083	0.82[EUR][1000 genomes]
rs4428418	0.92[ASN][1000 genomes]
rs4467713	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4513704	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4535459	0.98[ASN][1000 genomes]
rs4576155	0.84[EUR][1000 genomes]
rs4866746	0.82[EUR][1000 genomes]
rs4866833	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4866835	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55641556	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55667604	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55855322	0.94[ASN][1000 genomes]
rs56008952	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56097465	0.92[ASN][1000 genomes]
rs56252541	0.80[ASN][1000 genomes]
rs56333629	0.82[ASN][1000 genomes]
rs56400900	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57403343	0.86[ASN][1000 genomes]
rs57547662	0.83[EUR][1000 genomes]
rs57597020	0.87[EUR][1000 genomes]
rs59001943	0.94[ASN][1000 genomes]
rs59224335	0.92[ASN][1000 genomes]
rs60297702	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6451693	0.81[EUR][1000 genomes]
rs6451695	0.83[EUR][1000 genomes]
rs6451696	0.83[EUR][1000 genomes]
rs6451698	0.83[EUR][1000 genomes]
rs6451703	0.82[EUR][1000 genomes]
rs6451704	0.84[EUR][1000 genomes]
rs6451706	0.82[EUR][1000 genomes]
rs6451712	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67261887	0.81[ASN][1000 genomes]
rs67466542	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6860493	0.86[ASN][1000 genomes]
rs6861704	0.81[EUR][1000 genomes]
rs6862102	0.83[EUR][1000 genomes]
rs6865217	0.81[EUR][1000 genomes]
rs6866325	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6866802	0.94[ASN][1000 genomes]
rs6869933	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6870018	0.81[EUR][1000 genomes]
rs6870783	0.82[EUR][1000 genomes]
rs6884661	0.94[ASN][1000 genomes]
rs6885679	0.86[ASN][1000 genomes]
rs6891363	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6895327	0.86[ASN][1000 genomes]
rs6898866	0.88[ASN][1000 genomes]
rs72756535	0.86[ASN][1000 genomes]
rs73100614	0.81[EUR][1000 genomes]
rs7705166	0.88[ASN][1000 genomes]
rs7706431	0.88[ASN][1000 genomes]
rs7710628	0.86[ASN][1000 genomes]
rs7713479	0.92[ASN][1000 genomes]
rs7715782	0.96[ASN][1000 genomes]
rs7717636	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7732656	0.86[ASN][1000 genomes]
rs7734393	0.90[EUR][1000 genomes]
rs7735243	0.82[EUR][1000 genomes]
rs7736615	0.96[ASN][1000 genomes]
rs9292883	0.89[EUR][1000 genomes]
rs9687341	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9885189	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9885467	0.86[EUR][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	chr5:43523400-43551000	Strong transcription	Liver	Liver
5	chr5:43523400-43553600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:43523400-43554600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:43523600-43551000	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr5:43523600-43554200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:43524000-43555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:43524200-43553600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:43524800-43553600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:43525000-43552400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:43525400-43553400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:43526000-43553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:43526000-43554200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:43527200-43552000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:43527200-43552400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:43527400-43552400	Strong transcription	Hela-S3	cervix
19	chr5:43527400-43554200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:43527600-43550800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:43527600-43550800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:43527600-43553200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:43527600-43554400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr5:43527600-43555600	Strong transcription	Fetal Thymus	thymus
25	chr5:43527600-43556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:43527800-43552400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:43528000-43554800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:43530200-43552000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:43532200-43552200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr5:43532800-43552400	Strong transcription	Fetal Intestine Large	intestine
31	chr5:43532800-43554000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr5:43533000-43551400	Strong transcription	Fetal Lung	lung
33	chr5:43534600-43554400	Weak transcription	Aorta	Aorta
34	chr5:43534800-43551200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr5:43534800-43554000	Weak transcription	Right Ventricle	heart
36	chr5:43535000-43553600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:43538000-43553600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:43538800-43551600	Strong transcription	HepG2	liver
39	chr5:43538800-43554600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:43539800-43554200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:43540000-43552200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:43540400-43551000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr5:43540600-43551000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr5:43541000-43551200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:43541000-43554200	Weak transcription	Stomach Mucosa	stomach
46	chr5:43542800-43552200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:43542800-43556000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:43542800-43556000	Weak transcription	Esophagus	oesophagus
49	chr5:43543000-43551400	Strong transcription	Brain Anterior Caudate	brain
50	chr5:43543800-43552600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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