Variant report

Variant	rs7093330
Chromosome Location	chr10:116744574-116744575
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10160015	0.90[ASN][1000 genomes]
rs10444099	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1045657	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10490908	1.00[JPT][hapmap]
rs10510008	0.81[ASN][1000 genomes]
rs10885632	0.81[ASN][1000 genomes]
rs10885633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10885634	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10885636	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10885637	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs10885638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10885639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11196983	0.81[ASN][1000 genomes]
rs11196984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11196989	0.81[ASN][1000 genomes]
rs11196991	0.95[ASN][1000 genomes]
rs11196996	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11196999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11197000	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11197005	0.95[ASN][1000 genomes]
rs11197006	0.87[ASN][1000 genomes]
rs11197007	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11197010	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11197011	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs11197012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11197023	1.00[ASN][1000 genomes]
rs11197029	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12098332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12246008	1.00[ASN][1000 genomes]
rs12265048	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12269261	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12761122	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12764662	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12772737	1.00[ASN][1000 genomes]
rs12774597	1.00[ASN][1000 genomes]
rs12775180	1.00[JPT][hapmap]
rs12779231	1.00[ASN][1000 genomes]
rs17092542	1.00[JPT][hapmap]
rs17721283	1.00[JPT][hapmap]
rs17721905	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17722042	1.00[ASN][1000 genomes]
rs17794346	1.00[JPT][hapmap]
rs17795104	1.00[ASN][1000 genomes]
rs17795212	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1966384	1.00[JPT][hapmap]
rs2095379	0.95[ASN][1000 genomes]
rs2105001	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2420070	0.81[ASN][1000 genomes]
rs34170154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34434610	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34453431	1.00[ASN][1000 genomes]
rs34461950	0.91[ASN][1000 genomes]
rs35501899	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35811923	1.00[ASN][1000 genomes]
rs3931556	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs61869271	1.00[ASN][1000 genomes]
rs61869272	1.00[ASN][1000 genomes]
rs61869274	1.00[ASN][1000 genomes]
rs61869275	1.00[ASN][1000 genomes]
rs61869297	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6585302	0.81[ASN][1000 genomes]
rs6585306	0.95[ASN][1000 genomes]
rs6585308	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6585309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6585310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6585311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6585313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071789	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071812	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7072356	1.00[JPT][hapmap]
rs7074729	1.00[JPT][hapmap]
rs7075888	1.00[JPT][hapmap]
rs7079234	1.00[ASN][1000 genomes]
rs7085964	0.90[ASN][1000 genomes]
rs7086663	0.96[CEU][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7087420	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7090904	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7093282	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7094072	1.00[JPT][hapmap]
rs7097580	1.00[ASN][1000 genomes]
rs7099565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7099590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7099779	0.95[ASN][1000 genomes]
rs7100026	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7100159	0.95[ASN][1000 genomes]
rs7100894	0.81[ASN][1000 genomes]
rs72836518	1.00[ASN][1000 genomes]
rs749649	1.00[JPT][hapmap]
rs769119	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7895551	1.00[JPT][hapmap]
rs7898249	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7904605	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7908069	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7908464	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7909566	1.00[JPT][hapmap]
rs7909657	1.00[JPT][hapmap]
rs7917523	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs7923295	1.00[JPT][hapmap]
rs881192	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs968848	1.00[ASN][1000 genomes]
rs968849	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv831996	chr10:116601552-116772968	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1039002	chr10:116643095-116879483	Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv2761634	chr10:116643095-116879495	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv1045654	chr10:116654574-116879483	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1043242	chr10:116655057-116883386	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv831997	chr10:116689552-116855698	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7093330	TRUB1	Cis_1M	lymphoblastoid	RTeQTL
rs7093330	ATRNL1	cis	Muscle Skeletal	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116698800-116763600	Weak transcription	Esophagus	oesophagus
2	chr10:116703600-116747800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr10:116707000-116745600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr10:116718000-116747600	Weak transcription	Osteobl	bone
5	chr10:116722800-116748000	Weak transcription	Aorta	Aorta
6	chr10:116723000-116760800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr10:116731000-116761200	Weak transcription	Pancreas	Pancrea
8	chr10:116732800-116744600	Weak transcription	Stomach Mucosa	stomach
9	chr10:116734400-116752000	Weak transcription	Brain Angular Gyrus	brain
10	chr10:116735200-116751800	Weak transcription	Ovary	ovary
11	chr10:116737400-116759800	Weak transcription	Hela-S3	cervix
12	chr10:116739800-116746800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:116740400-116745800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr10:116740600-116745800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
15	chr10:116740600-116746200	ZNF genes & repeats	Dnd41	blood
16	chr10:116741000-116744600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:116741000-116744600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr10:116741000-116745200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:116741000-116746000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:116741000-116746200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr10:116741400-116746000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:116741800-116744600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
23	chr10:116742000-116744600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
24	chr10:116742000-116744600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:116742000-116745200	ZNF genes & repeats	Fetal Lung	lung
26	chr10:116742200-116744800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:116742200-116745000	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr10:116742200-116745600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:116742200-116746600	Weak transcription	A549	lung
30	chr10:116742200-116761600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr10:116742400-116744800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr10:116742400-116745600	ZNF genes & repeats	Liver	Liver
33	chr10:116742600-116744600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr10:116742600-116744800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
35	chr10:116742600-116745000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
36	chr10:116742600-116763400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:116742600-116763400	Weak transcription	Lung	lung
38	chr10:116742800-116745000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:116743000-116744800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:116743200-116744600	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chr10:116743200-116744600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr10:116743200-116745200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr10:116743200-116746000	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr10:116743400-116745000	ZNF genes & repeats	Left Ventricle	heart
45	chr10:116743400-116745000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
46	chr10:116743400-116746000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr10:116743600-116744800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr10:116743600-116744800	ZNF genes & repeats	HSMM	muscle
49	chr10:116743800-116745000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
50	chr10:116743800-116745000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum

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