Variant report

Variant	rs11832489
Chromosome Location	chr12:105556881-105556882
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1014502	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10431460	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1057110	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1077896	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10861359	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861361	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1109433	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11112369	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112370	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112372	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112375	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112379	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112388	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112409	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11112412	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112415	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11112416	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11112421	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112423	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11112432	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11831854	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11834277	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12228093	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228948	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230762	0.82[ASN][1000 genomes]
rs12812433	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12815031	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12819309	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12830078	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1317955	0.87[EUR][1000 genomes]
rs1373552	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444611	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1470381	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2272495	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293643	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2293644	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2464176	0.93[ASN][1000 genomes]
rs28549976	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34075890	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34119882	0.80[ASN][1000 genomes]
rs34983773	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35462155	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35672903	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3736628	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3794222	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3794223	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3794224	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3794227	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3817607	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3829296	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4964125	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4964334	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4964335	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964336	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4964338	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964339	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4964340	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4964342	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55908437	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56693261	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179994	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7485364	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755604	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8015	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs881279	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9919746	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	esv1826054	chr12:105505809-105568176	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1049296	chr12:105518764-105566079	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105505200-105559800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:105505200-105564000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:105505200-105567400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:105505200-105573000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:105505600-105573200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:105505800-105571400	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr12:105506400-105573000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:105506800-105568800	Strong transcription	Dnd41	blood
9	chr12:105506800-105572400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:105507000-105573200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:105507200-105571400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr12:105507400-105565600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr12:105507600-105571400	Strong transcription	HUVEC	blood vessel
14	chr12:105507600-105572800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:105507800-105563800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr12:105507800-105573200	Strong transcription	Placenta	Placenta
17	chr12:105508000-105565400	Strong transcription	Adipose Nuclei	Adipose
18	chr12:105508200-105572800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr12:105508400-105562000	Strong transcription	Primary B cells from cord blood	blood
20	chr12:105508600-105573000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:105508800-105565000	Strong transcription	Liver	Liver
22	chr12:105510000-105565200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:105513800-105567800	Weak transcription	Pancreas	Pancrea
24	chr12:105515200-105557600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:105518600-105573200	Strong transcription	HSMM	muscle
26	chr12:105519400-105558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:105522600-105557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:105522600-105586000	Weak transcription	Stomach Mucosa	stomach
29	chr12:105524600-105578200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:105525400-105583200	Weak transcription	Fetal Heart	heart
31	chr12:105527200-105565400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:105529800-105571400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:105531200-105557200	Weak transcription	Gastric	stomach
34	chr12:105531200-105557400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:105532400-105577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:105533200-105565200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:105537400-105559600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:105537400-105560400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:105539800-105565800	Strong transcription	Osteobl	bone
40	chr12:105542200-105557800	Weak transcription	K562	blood
41	chr12:105543800-105561600	Strong transcription	Fetal Thymus	thymus
42	chr12:105544600-105557000	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:105544600-105557400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:105545200-105557800	Weak transcription	Aorta	Aorta
45	chr12:105545400-105558800	Strong transcription	NHDF-Ad	bronchial
46	chr12:105545600-105557200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:105546600-105557800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:105546800-105625200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:105548600-105557800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:105549000-105557000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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