Variant report

Variant	rs12332560
Chromosome Location	chr5:43545628-43545629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43545437..43548284-chr5:43610055..43612795,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10036954	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10038608	0.82[EUR][1000 genomes]
rs10042992	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10045455	0.83[EUR][1000 genomes]
rs10053229	0.88[ASN][1000 genomes]
rs10058558	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10059912	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10059993	0.86[ASN][1000 genomes]
rs10061165	0.83[EUR][1000 genomes]
rs10065689	0.86[ASN][1000 genomes]
rs10066408	0.88[ASN][1000 genomes]
rs10068064	0.88[ASN][1000 genomes]
rs10447144	0.80[EUR][1000 genomes]
rs10462051	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473311	0.84[EUR][1000 genomes]
rs10941640	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11949083	0.90[ASN][1000 genomes]
rs11952832	0.82[ASN][1000 genomes]
rs11958046	0.90[ASN][1000 genomes]
rs12521249	1.00[ASN][1000 genomes]
rs12651879	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12652547	0.87[EUR][1000 genomes]
rs12659369	0.82[EUR][1000 genomes]
rs12697457	1.00[ASN][1000 genomes]
rs13185343	0.83[EUR][1000 genomes]
rs13189004	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13189484	0.91[ASN][1000 genomes]
rs13359906	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1366410	0.85[ASN][1000 genomes]
rs1389868	0.80[EUR][1000 genomes]
rs1389869	0.80[EUR][1000 genomes]
rs1428640	0.81[EUR][1000 genomes]
rs2013173	0.80[EUR][1000 genomes]
rs2132000	0.83[EUR][1000 genomes]
rs2132003	0.81[ASN][1000 genomes]
rs2172763	0.82[EUR][1000 genomes]
rs28437972	0.96[ASN][1000 genomes]
rs28606458	0.86[ASN][1000 genomes]
rs34007811	0.86[EUR][1000 genomes]
rs35710460	0.86[EUR][1000 genomes]
rs35881272	0.92[EUR][1000 genomes]
rs36013953	0.90[EUR][1000 genomes]
rs3776423	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3806870	0.81[EUR][1000 genomes]
rs4072918	0.96[ASN][1000 genomes]
rs4072919	0.96[ASN][1000 genomes]
rs4073848	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4073850	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4073851	0.88[EUR][1000 genomes]
rs4074777	0.88[ASN][1000 genomes]
rs4242099	0.80[EUR][1000 genomes]
rs4308491	0.82[EUR][1000 genomes]
rs4331909	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4367306	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4386738	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4415083	0.83[EUR][1000 genomes]
rs4428418	0.94[ASN][1000 genomes]
rs4467713	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4513704	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4535459	1.00[ASN][1000 genomes]
rs4541663	0.81[EUR][1000 genomes]
rs4576155	0.85[EUR][1000 genomes]
rs4866746	0.83[EUR][1000 genomes]
rs4866833	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4866835	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55641556	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55667604	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55855322	0.96[ASN][1000 genomes]
rs56008952	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56097465	0.94[ASN][1000 genomes]
rs56252541	0.82[ASN][1000 genomes]
rs56333629	0.84[ASN][1000 genomes]
rs56400900	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57403343	0.88[ASN][1000 genomes]
rs57547662	0.84[EUR][1000 genomes]
rs57597020	0.88[EUR][1000 genomes]
rs59001943	0.96[ASN][1000 genomes]
rs59224335	0.94[ASN][1000 genomes]
rs60297702	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6451695	0.84[EUR][1000 genomes]
rs6451696	0.84[EUR][1000 genomes]
rs6451698	0.84[EUR][1000 genomes]
rs6451703	0.83[EUR][1000 genomes]
rs6451704	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6451705	0.81[ASN][1000 genomes]
rs6451706	0.83[EUR][1000 genomes]
rs6451712	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67261887	0.83[ASN][1000 genomes]
rs67466542	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67581152	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6860493	0.88[ASN][1000 genomes]
rs6861704	0.82[EUR][1000 genomes]
rs6862102	0.84[EUR][1000 genomes]
rs6865217	0.82[EUR][1000 genomes]
rs6866325	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6866802	0.96[ASN][1000 genomes]
rs6869933	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6870018	0.82[EUR][1000 genomes]
rs6870783	0.83[EUR][1000 genomes]
rs6883661	0.81[EUR][1000 genomes]
rs6884661	0.96[ASN][1000 genomes]
rs6885679	0.88[ASN][1000 genomes]
rs6891363	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6895327	0.88[ASN][1000 genomes]
rs6896693	0.81[ASN][1000 genomes]
rs6898866	0.90[ASN][1000 genomes]
rs72756535	0.88[ASN][1000 genomes]
rs7705166	0.90[ASN][1000 genomes]
rs7706431	0.90[ASN][1000 genomes]
rs7710628	0.88[ASN][1000 genomes]
rs7713479	0.94[ASN][1000 genomes]
rs7715782	0.98[ASN][1000 genomes]
rs7717636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732656	0.88[ASN][1000 genomes]
rs7734393	0.91[EUR][1000 genomes]
rs7735243	0.83[EUR][1000 genomes]
rs7736615	0.98[ASN][1000 genomes]
rs9292883	0.90[EUR][1000 genomes]
rs9687341	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9885189	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9885467	0.87[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	chr5:43523200-43550600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:43523200-43551600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:43523200-43551800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:43523200-43552200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:43523400-43551000	Strong transcription	Liver	Liver
6	chr5:43523400-43553600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:43523400-43554600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:43523600-43551000	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr5:43523600-43554200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:43524000-43555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:43524200-43553600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:43524800-43553600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:43525000-43552400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:43525200-43548600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr5:43525400-43553400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:43526000-43553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:43526000-43554200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:43527200-43548200	Strong transcription	HUVEC	blood vessel
19	chr5:43527200-43550400	Strong transcription	Dnd41	blood
20	chr5:43527200-43552000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:43527200-43552400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:43527400-43552400	Strong transcription	Hela-S3	cervix
23	chr5:43527400-43554200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:43527600-43548800	Strong transcription	HSMM	muscle
25	chr5:43527600-43550400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:43527600-43550800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:43527600-43550800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:43527600-43553200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:43527600-43554400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:43527600-43555600	Strong transcription	Fetal Thymus	thymus
31	chr5:43527600-43556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:43527800-43549000	Strong transcription	Osteobl	bone
33	chr5:43527800-43552400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:43528000-43554800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:43530200-43552000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:43532200-43552200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr5:43532400-43548800	Strong transcription	Placenta	Placenta
38	chr5:43532800-43552400	Strong transcription	Fetal Intestine Large	intestine
39	chr5:43532800-43554000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr5:43533000-43549000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr5:43533000-43551400	Strong transcription	Fetal Lung	lung
42	chr5:43534200-43550600	Weak transcription	Fetal Heart	heart
43	chr5:43534400-43548000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr5:43534400-43550400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr5:43534600-43546800	Weak transcription	Gastric	stomach
46	chr5:43534600-43554400	Weak transcription	Aorta	Aorta
47	chr5:43534800-43551200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:43534800-43554000	Weak transcription	Right Ventricle	heart
49	chr5:43535000-43553600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:43537800-43549800	Strong transcription	Fetal Muscle Leg	muscle

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