Variant report

Variant	rs58888905
Chromosome Location	chr12:50868097-50868098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10506293	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10747580	0.96[ASN][1000 genomes]
rs10747581	0.96[ASN][1000 genomes]
rs10783362	0.88[ASN][1000 genomes]
rs10783368	0.85[EUR][1000 genomes]
rs10876030	0.82[ASN][1000 genomes]
rs10876034	0.89[ASN][1000 genomes]
rs10876048	0.85[EUR][1000 genomes]
rs10876054	0.85[EUR][1000 genomes]
rs11169408	0.83[ASN][1000 genomes]
rs11169422	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169427	0.96[ASN][1000 genomes]
rs11169440	0.89[ASN][1000 genomes]
rs12099511	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099615	0.90[EUR][1000 genomes]
rs12296379	0.90[EUR][1000 genomes]
rs12307602	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320201	0.85[EUR][1000 genomes]
rs12578525	0.88[ASN][1000 genomes]
rs13328926	0.90[EUR][1000 genomes]
rs1402693	0.90[EUR][1000 genomes]
rs1521517	0.85[EUR][1000 genomes]
rs17119774	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17119778	0.93[ASN][1000 genomes]
rs17124672	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17531020	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1996750	0.90[EUR][1000 genomes]
rs2252595	0.81[EUR][1000 genomes]
rs2684902	0.85[EUR][1000 genomes]
rs2684906	0.85[EUR][1000 genomes]
rs28414775	0.90[EUR][1000 genomes]
rs28479152	0.90[EUR][1000 genomes]
rs2947617	0.85[EUR][1000 genomes]
rs4129355	0.85[EUR][1000 genomes]
rs4238104	0.88[ASN][1000 genomes]
rs4257057	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4298982	0.89[ASN][1000 genomes]
rs4306347	0.90[EUR][1000 genomes]
rs4351895	0.88[ASN][1000 genomes]
rs4450234	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4517607	0.90[EUR][1000 genomes]
rs4562889	0.81[EUR][1000 genomes]
rs4768877	0.92[ASN][1000 genomes]
rs4768878	0.87[ASN][1000 genomes]
rs4768879	0.88[ASN][1000 genomes]
rs4768880	0.86[ASN][1000 genomes]
rs4768887	0.85[EUR][1000 genomes]
rs4768928	0.87[ASN][1000 genomes]
rs4768936	0.90[ASN][1000 genomes]
rs56671180	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56753963	0.90[EUR][1000 genomes]
rs56989201	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57283487	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57293958	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57512759	0.90[EUR][1000 genomes]
rs57578212	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57811009	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57828015	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58500867	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58869591	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58915267	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58916974	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58943330	0.90[EUR][1000 genomes]
rs59194948	0.90[EUR][1000 genomes]
rs59683461	0.90[EUR][1000 genomes]
rs59696942	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59968707	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60010359	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60198651	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60201334	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60239257	0.90[EUR][1000 genomes]
rs60242613	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60396677	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60420087	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60494920	0.90[EUR][1000 genomes]
rs60610745	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60743903	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60908906	0.90[EUR][1000 genomes]
rs61578731	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580753	0.88[ASN][1000 genomes]
rs6580754	0.87[ASN][1000 genomes]
rs7131993	0.85[EUR][1000 genomes]
rs7133488	0.93[ASN][1000 genomes]
rs7135159	0.92[ASN][1000 genomes]
rs7135222	0.85[EUR][1000 genomes]
rs7138063	0.89[ASN][1000 genomes]
rs7295610	0.93[ASN][1000 genomes]
rs7296212	0.88[ASN][1000 genomes]
rs7299321	0.93[ASN][1000 genomes]
rs7301125	0.85[EUR][1000 genomes]
rs7302749	0.85[EUR][1000 genomes]
rs7304017	0.86[ASN][1000 genomes]
rs7304262	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7306387	0.90[EUR][1000 genomes]
rs7310507	0.90[EUR][1000 genomes]
rs7487645	0.90[EUR][1000 genomes]
rs7953880	0.90[EUR][1000 genomes]
rs7955176	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7955310	0.85[EUR][1000 genomes]
rs7957033	0.88[ASN][1000 genomes]
rs7965165	0.96[ASN][1000 genomes]
rs7974480	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7978443	0.90[EUR][1000 genomes]
rs7978625	0.93[ASN][1000 genomes]
rs7979184	0.84[EUR][1000 genomes]
rs951591	0.90[EUR][1000 genomes]
rs9634264	0.85[EUR][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	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
3	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr12:50809600-50872200	Weak transcription	Fetal Brain Male	brain
2	chr12:50819200-50870800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:50820200-50869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:50820200-50871000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:50821600-50871400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:50821600-50872800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:50825800-50873000	Strong transcription	Liver	Liver
8	chr12:50827400-50870400	Weak transcription	Stomach Mucosa	stomach
9	chr12:50831000-50874000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:50833400-50872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:50834200-50872400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:50836600-50870000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:50839000-50869800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:50844400-50872400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:50846200-50873000	Strong transcription	Adipose Nuclei	Adipose
16	chr12:50846800-50872000	Weak transcription	Fetal Heart	heart
17	chr12:50849200-50878000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:50850000-50871600	Weak transcription	Small Intestine	intestine
19	chr12:50851200-50870800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:50851800-50872600	Strong transcription	Dnd41	blood
21	chr12:50852200-50871000	Strong transcription	Fetal Thymus	thymus
22	chr12:50852400-50872200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:50852400-50872600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:50852600-50873000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:50853000-50870800	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:50853000-50871400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:50853800-50871400	Strong transcription	Osteobl	bone
28	chr12:50853800-50872600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:50854200-50873000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr12:50854800-50869800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:50855000-50870800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:50856200-50872200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:50856200-50872400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:50857600-50872400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:50857800-50872600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:50858000-50868200	Weak transcription	Gastric	stomach
37	chr12:50858000-50869600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:50858000-50870800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:50858200-50871600	Weak transcription	Spleen	Spleen
40	chr12:50858400-50872400	Strong transcription	A549	lung
41	chr12:50859000-50872800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:50859600-50871800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:50859800-50868600	Weak transcription	Fetal Kidney	kidney
44	chr12:50859800-50869800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:50860000-50870200	Strong transcription	Fetal Stomach	stomach
46	chr12:50860200-50871000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:50860400-50872400	Strong transcription	Placenta	Placenta
48	chr12:50860600-50870600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr12:50860600-50871400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr12:50860600-50872600	Strong transcription	Primary monocytes fromperipheralblood	blood

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