Variant report

Variant	rs12581249
Chromosome Location	chr12:122863585-122863586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122862328..122864567-chr12:122869940..122871996,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10161534	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10734915	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10734918	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10744192	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10744208	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10744209	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10744210	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10744211	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10744217	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10773075	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10773088	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10773103	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773104	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773167	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10773172	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10773176	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10773178	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10846664	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10846699	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846764	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846792	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10846826	0.90[AMR][1000 genomes]
rs10846830	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10846835	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10846920	0.85[ASN][1000 genomes]
rs10846921	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10846931	0.81[EUR][1000 genomes]
rs11057786	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11057797	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11057882	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11058034	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11058226	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11058233	0.80[EUR][1000 genomes]
rs11058251	0.83[EUR][1000 genomes]
rs11616082	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11836188	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12372756	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12423420	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12425970	0.80[ASN][1000 genomes]
rs1553179	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1803290	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1818050	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973463	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2173582	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2341439	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485674	0.83[EUR][1000 genomes]
rs28730465	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34129612	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3817011	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4039670	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4758643	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4758644	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4758645	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4758646	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4758648	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4758662	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4758666	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4758667	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4997380	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55834409	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488933	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6488939	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488951	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488958	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6489002	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7135419	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7294559	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7301515	0.87[EUR][1000 genomes]
rs7316114	0.82[EUR][1000 genomes]
rs7397299	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7398014	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7952868	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7953007	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7956480	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7964138	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7969429	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7973869	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7974262	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975747	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788145	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122838000-122868000	Weak transcription	Fetal Lung	lung
2	chr12:122839600-122871000	Weak transcription	Fetal Kidney	kidney
3	chr12:122841000-122872600	Weak transcription	Fetal Brain Male	brain
4	chr12:122846000-122865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:122846000-122883800	Weak transcription	Aorta	Aorta
6	chr12:122851400-122864200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:122852000-122869800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:122852000-122869800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:122852200-122867400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:122852200-122869800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:122852200-122870200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:122852800-122867800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:122853200-122868600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:122853800-122866600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:122853800-122868600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:122853800-122869000	Strong transcription	Placenta	Placenta
17	chr12:122854200-122868000	Strong transcription	Fetal Stomach	stomach
18	chr12:122854200-122868600	Weak transcription	Stomach Mucosa	stomach
19	chr12:122854400-122867600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:122854600-122868000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:122854800-122867000	Weak transcription	Psoas Muscle	Psoas
22	chr12:122855600-122867800	Strong transcription	Fetal Intestine Small	intestine
23	chr12:122855800-122864400	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:122855800-122865200	Strong transcription	Hela-S3	cervix
25	chr12:122855800-122865400	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:122855800-122867800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:122856000-122863800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:122856000-122866600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:122856400-122884200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:122856600-122877000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:122856600-122878200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:122857400-122865200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:122857600-122868000	Weak transcription	Brain Angular Gyrus	brain
34	chr12:122858000-122864200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:122858400-122864800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr12:122858600-122863600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:122859000-122865200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr12:122859000-122867200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:122859200-122863800	Strong transcription	Dnd41	blood
40	chr12:122859200-122864800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:122859200-122866800	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:122859200-122867200	Strong transcription	Lung	lung
43	chr12:122859400-122864200	Strong transcription	Primary T cells from cord blood	blood
44	chr12:122859400-122865200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:122859400-122867000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:122859400-122867200	Strong transcription	Liver	Liver
47	chr12:122859400-122867200	Strong transcription	Fetal Intestine Large	intestine
48	chr12:122860000-122869800	Weak transcription	Fetal Heart	heart
49	chr12:122860200-122864000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr12:122860200-122864200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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