Variant report

Variant	rs1367601
Chromosome Location	chr12:41584085-41584086
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10506182	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10748266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10748267	0.80[EUR][1000 genomes]
rs10748275	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10785150	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10785165	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785174	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10785177	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10879830	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10879889	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11180421	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1346905	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1367600	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1367602	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1405548	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1431102	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1431103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1431104	0.82[EUR][1000 genomes]
rs1431105	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1431106	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1431107	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1431108	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1431109	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1431111	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1431113	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1431114	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1431115	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1431116	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1461094	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1852461	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1864611	0.82[EUR][1000 genomes]
rs1864612	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1864613	0.82[EUR][1000 genomes]
rs1870704	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1966609	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2043134	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060053	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2060054	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2060055	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2163415	0.85[EUR][1000 genomes]
rs2169299	0.85[EUR][1000 genomes]
rs2195706	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2195707	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2405768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2567034	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs281829	0.81[EUR][1000 genomes]
rs281831	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs281837	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs281840	0.81[EUR][1000 genomes]
rs281841	0.85[EUR][1000 genomes]
rs281843	0.80[EUR][1000 genomes]
rs2897227	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2897228	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3847980	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3847981	0.86[EUR][1000 genomes]
rs3858726	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3911712	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4278570	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4768335	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6582240	0.83[EUR][1000 genomes]
rs6582280	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6582281	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6582282	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6582283	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7137842	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7296581	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7301200	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7303285	0.84[EUR][1000 genomes]
rs7304286	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7487688	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs776567	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7954881	0.82[EUR][1000 genomes]
rs7956699	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7961556	0.83[ASN][1000 genomes]
rs7961657	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7980599	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788073	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1048124	chr12:41499221-41585315	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
5	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41581200-41585200	Active TSS	Stomach Smooth Muscle	stomach
2	chr12:41581400-41584400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:41581600-41584200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:41581600-41584400	Active TSS	Rectal Smooth Muscle	rectum
5	chr12:41581800-41584200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr12:41581800-41584200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:41581800-41584400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr12:41581800-41584600	Active TSS	Brain Substantia Nigra	brain
9	chr12:41581800-41585200	Active TSS	Colon Smooth Muscle	Colon
10	chr12:41582000-41584200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
11	chr12:41582000-41584200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
12	chr12:41582000-41584200	Active TSS	Right Atrium	heart
13	chr12:41582000-41584400	Active TSS	Aorta	Aorta
14	chr12:41582000-41584400	Bivalent Enhancer	Fetal Heart	heart
15	chr12:41582200-41584200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
16	chr12:41582400-41584200	Bivalent/Poised TSS	Psoas Muscle	Psoas
17	chr12:41582600-41584400	Active TSS	Ovary	ovary
18	chr12:41582800-41584200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
19	chr12:41582800-41584200	Bivalent/Poised TSS	Fetal Kidney	kidney
20	chr12:41582800-41584200	Flanking Bivalent TSS/Enh	NHEK	skin
21	chr12:41582800-41584400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:41582800-41584400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:41583000-41584200	Bivalent Enhancer	Fetal Lung	lung
24	chr12:41583000-41584400	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr12:41583000-41584400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
26	chr12:41583200-41584200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:41583200-41584200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:41583200-41584200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:41583400-41584400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr12:41583400-41584600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:41583600-41584400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr12:41583600-41584400	Bivalent Enhancer	Fetal Brain Male	brain
33	chr12:41583800-41584200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:41583800-41584200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr12:41583800-41584200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
36	chr12:41583800-41584200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr12:41583800-41584200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:41583800-41584200	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr12:41583800-41584200	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr12:41584000-41584200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:41584000-41584200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:41584000-41584200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
43	chr12:41584000-41584200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:41584000-41584200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:41584000-41584200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:41584000-41584200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:41584000-41584200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:41584000-41584200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr12:41584000-41584200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:41584000-41584200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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