Variant report

Variant	rs3892344
Chromosome Location	chr10:97574145-97574146
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97572611..97574483-chr10:97578100..97579949,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10736092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736093	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10736094	0.98[ASN][1000 genomes]
rs10748642	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10748643	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10748645	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10748647	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10748648	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10748649	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10786234	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10786236	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10786237	0.80[ASN][1000 genomes]
rs10882655	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10882656	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10882657	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10882659	0.80[AFR][1000 genomes]
rs10882660	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10882663	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10882666	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882668	0.87[ASN][1000 genomes]
rs10882669	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10882673	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882674	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882675	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10882676	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11188445	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188446	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11188449	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11188452	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11188460	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11188465	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11188486	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11188497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188513	0.98[ASN][1000 genomes]
rs11517041	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1342790	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1342791	0.80[ASN][1000 genomes]
rs1418709	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1539433	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1573112	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1891534	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1933165	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1933172	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2051052	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2095713	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2153913	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2153914	0.98[ASN][1000 genomes]
rs2185818	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2226163	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2275759	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2861147	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2861148	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2861152	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2901872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2901873	0.80[ASN][1000 genomes]
rs3176881	0.98[ASN][1000 genomes]
rs3176890	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3176891	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3181124	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3181129	0.83[ASN][1000 genomes]
rs3181131	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181132	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814159	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3929900	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3934409	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4074424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4322324	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4336961	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4381306	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4396219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4412693	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4431963	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4539246	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4551688	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4582902	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4614366	0.83[ASN][1000 genomes]
rs4625389	0.92[AMR][1000 genomes]
rs4917705	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4917707	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4917714	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4917715	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4918960	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4918962	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4918968	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4918969	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4918971	0.84[ASN][1000 genomes]
rs4918973	0.80[ASN][1000 genomes]
rs4918974	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5014871	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6584017	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6584018	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6584022	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6584023	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6584027	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6584030	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7069030	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7071836	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7074403	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7077566	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7082531	0.89[ASN][1000 genomes]
rs7083411	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7083960	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086986	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7088584	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7088961	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7094382	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7094484	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7095587	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7096317	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7097489	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7099844	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7478595	0.85[AMR][1000 genomes]
rs7913082	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7914286	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7921242	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv895905	chr10:97513362-97686064	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv895906	chr10:97513362-97703650	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv895907	chr10:97529318-97686064	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv895908	chr10:97544513-97724247	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3892344	ENTPD1	cis	multi-tissue	Pritchard
rs3892344	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs3892344	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL
rs3892344	TCTN3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97553000-97576200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:97570400-97577600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:97572000-97575200	Enhancers	HepG2	liver
4	chr10:97573000-97574400	Enhancers	NHDF-Ad	bronchial
5	chr10:97573000-97575400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr10:97573000-97575400	Enhancers	Brain Anterior Caudate	brain
7	chr10:97573000-97575800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:97573000-97575800	Enhancers	Brain Hippocampus Middle	brain
9	chr10:97573200-97574200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr10:97573200-97574200	Enhancers	Adipose Nuclei	Adipose
11	chr10:97573200-97574200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr10:97573200-97574400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:97573200-97574400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:97573200-97574400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr10:97573200-97574400	Enhancers	Fetal Muscle Leg	muscle
16	chr10:97573200-97574400	Enhancers	Placenta	Placenta
17	chr10:97573200-97574400	Enhancers	Left Ventricle	heart
18	chr10:97573200-97574400	Enhancers	Lung	lung
19	chr10:97573200-97574400	Enhancers	Spleen	Spleen
20	chr10:97573200-97574600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:97573200-97574800	Enhancers	HMEC	breast
22	chr10:97573200-97574800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr10:97573200-97575000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr10:97573200-97575200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr10:97573200-97575200	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr10:97573200-97575800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr10:97573200-97575800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr10:97573200-97580000	Enhancers	HUVEC	blood vessel
29	chr10:97573400-97574200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr10:97573400-97574200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:97573400-97574400	Enhancers	Osteobl	bone
32	chr10:97573400-97574600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:97573400-97574600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr10:97573400-97575400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr10:97573400-97575800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr10:97573600-97574200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:97573600-97574200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:97573600-97574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:97573600-97574200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:97573600-97574200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr10:97573600-97574200	Enhancers	Brain Angular Gyrus	brain
42	chr10:97573600-97574200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr10:97573600-97574400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:97573600-97574400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr10:97573600-97574400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:97573600-97574400	Enhancers	Fetal Stomach	stomach
47	chr10:97573600-97574400	Enhancers	Right Ventricle	heart
48	chr10:97573600-97574400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr10:97573600-97574400	Enhancers	Small Intestine	intestine
50	chr10:97573600-97574400	Enhancers	NH-A	brain

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