Variant report

Variant	rs73236948
Chromosome Location	chr8:66521411-66521412
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10087361	0.99[ASN][1000 genomes]
rs10089029	0.99[ASN][1000 genomes]
rs10089708	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10092109	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10097461	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10100131	0.83[AMR][1000 genomes]
rs10110985	0.82[ASN][1000 genomes]
rs1053085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1053087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1053088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10957361	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11776709	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11776712	0.91[ASN][1000 genomes]
rs11985628	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11990855	1.00[ASN][1000 genomes]
rs12335006	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12335276	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12543053	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12544767	0.94[ASN][1000 genomes]
rs12677419	0.97[ASN][1000 genomes]
rs12678467	0.97[ASN][1000 genomes]
rs13252358	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13266834	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13267942	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13281155	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs14213	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1473601	0.99[ASN][1000 genomes]
rs1533285	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16932245	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932250	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932314	0.92[ASN][1000 genomes]
rs1877638	0.94[ASN][1000 genomes]
rs2048650	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2102648	0.98[ASN][1000 genomes]
rs2175809	0.97[ASN][1000 genomes]
rs2175810	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2357476	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28415299	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28576524	0.97[ASN][1000 genomes]
rs28613797	0.99[ASN][1000 genomes]
rs2884199	0.80[AMR][1000 genomes]
rs3268	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34226237	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34494846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34533611	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34851482	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs35038843	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35790435	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35941313	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3750184	1.00[ASN][1000 genomes]
rs3765205	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812412	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4275254	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4320587	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4384016	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4384017	0.86[ASN][1000 genomes]
rs4388482	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4397444	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4637885	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4637886	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737222	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737748	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737749	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737750	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5018458	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57419568	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60023200	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60058315	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6472213	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6472214	0.87[ASN][1000 genomes]
rs6472215	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6472216	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6472217	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6472218	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66467166	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66486920	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67046768	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67131486	0.96[ASN][1000 genomes]
rs67685675	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6985897	0.89[ASN][1000 genomes]
rs6985932	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986691	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986866	0.83[AMR][1000 genomes]
rs6991731	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6993876	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994213	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995242	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6997959	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006261	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7006648	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7007505	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7012578	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7012856	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7016472	1.00[ASN][1000 genomes]
rs71930161	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73236986	0.99[ASN][1000 genomes]
rs73239011	0.99[ASN][1000 genomes]
rs73239085	0.98[ASN][1000 genomes]
rs7459737	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7464123	0.94[ASN][1000 genomes]
rs7464223	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7812390	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7812446	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814841	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7815488	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7817112	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7823840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832407	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7835313	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7836349	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836746	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841652	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7842162	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7846527	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs73236948	CTD-3025N20.3	cis	Artery Tibial	GTEx
rs73236948	CTD-3025N20.3	cis	Nerve Tibial	GTEx
rs73236948	CTD-3025N20.3	cis	lung	GTEx
rs73236948	CTD-3025N20.3	cis	Thyroid	GTEx
rs73236948	CTD-3025N20.3	cis	Esophagus Muscularis	GTEx
rs73236948	CTD-3025N20.3	cis	Esophagus Mucosa	GTEx
rs73236948	CTD-3025N20.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66500800-66524400	Weak transcription	Psoas Muscle	Psoas
2	chr8:66504000-66545200	Weak transcription	Fetal Brain Male	brain
3	chr8:66506800-66545200	Weak transcription	Stomach Mucosa	stomach
4	chr8:66507200-66522400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:66507800-66538000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:66508000-66545200	Weak transcription	Fetal Heart	heart
7	chr8:66510600-66528200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:66512200-66521800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:66512800-66526400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:66513800-66525600	Strong transcription	Fetal Intestine Large	intestine
11	chr8:66513800-66527800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:66513800-66528000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr8:66513800-66528200	Strong transcription	Fetal Thymus	thymus
14	chr8:66513800-66528400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:66514000-66521600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:66514000-66522000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:66514000-66527800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:66514000-66528200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:66514000-66528200	Strong transcription	Adipose Nuclei	Adipose
20	chr8:66514000-66528400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:66514000-66528400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:66514000-66528400	Strong transcription	Placenta	Placenta
23	chr8:66514200-66522000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:66514200-66526800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:66514200-66527600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr8:66514200-66527600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:66514200-66528000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:66514200-66528200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:66514200-66528400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:66514200-66528400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:66514200-66528600	Strong transcription	Dnd41	blood
32	chr8:66514200-66528800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:66514200-66528800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:66514400-66527600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:66514600-66539200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr8:66514800-66525800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:66514800-66527600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr8:66514800-66528400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:66514800-66528400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:66514800-66528800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:66515000-66528000	Strong transcription	Primary T cells from cord blood	blood
42	chr8:66515200-66528400	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr8:66515400-66521800	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr8:66515400-66527600	Strong transcription	Brain Anterior Caudate	brain
45	chr8:66515600-66528000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr8:66516000-66525600	Strong transcription	Fetal Brain Female	brain
47	chr8:66516200-66527200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr8:66516400-66525800	Strong transcription	Fetal Muscle Leg	muscle
49	chr8:66516400-66528400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:66516400-66528800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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