Variant report

Variant	rs9418368
Chromosome Location	chr10:38663166-38663167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17611180	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1892144	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2145672	0.94[ASN][1000 genomes]
rs2754353	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2754363	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2754366	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2754370	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2754493	0.86[AFR][1000 genomes]
rs2754495	0.91[ASN][1000 genomes]
rs2800473	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2800551	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2800552	0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2800555	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2804622	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804623	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804624	0.95[ASN][1000 genomes]
rs2804637	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2804638	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2804639	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2804641	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2804643	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2804677	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4934948	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61837215	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6482064	0.83[AFR][1000 genomes]
rs9730745	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv33710	chr10:38545898-38671289	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv427860	chr10:38588021-38818835	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv895034	chr10:38632352-38743545	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv947859	chr10:38633447-38674546	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2764202	chr10:38641508-39076221	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1048953	chr10:38645824-39074038	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv428230	chr10:38652001-38818835	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9418368	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs9418368	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL
rs9418368	HSD17B7P2	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38645800-38669000	Weak transcription	Colon Smooth Muscle	Colon
2	chr10:38646000-38665200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr10:38646000-38670600	Weak transcription	Fetal Stomach	stomach
4	chr10:38646200-38667000	Weak transcription	Fetal Intestine Small	intestine
5	chr10:38646200-38669200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:38646200-38669200	Weak transcription	Right Ventricle	heart
7	chr10:38648200-38668600	Weak transcription	HUVEC	blood vessel
8	chr10:38655400-38669000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:38656000-38668600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr10:38656200-38669200	Weak transcription	Primary B cells from cord blood	blood
11	chr10:38656400-38668800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr10:38656400-38670000	Weak transcription	Fetal Lung	lung
13	chr10:38656600-38670600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:38657600-38668600	Weak transcription	Fetal Thymus	thymus
15	chr10:38658200-38668400	Weak transcription	Placenta	Placenta
16	chr10:38658600-38663800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr10:38660400-38666000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:38660600-38666600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:38660600-38667000	Weak transcription	Lung	lung
20	chr10:38660600-38667800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr10:38660600-38668600	Weak transcription	Brain Anterior Caudate	brain
22	chr10:38660600-38669000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:38660600-38669000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr10:38660600-38669000	Weak transcription	Spleen	Spleen
25	chr10:38660600-38670400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:38660600-38670600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr10:38660600-38671600	Weak transcription	HepG2	liver
28	chr10:38660800-38665200	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr10:38660800-38667200	Weak transcription	Primary T cells from cord blood	blood
30	chr10:38661000-38666200	Weak transcription	Ovary	ovary
31	chr10:38661000-38666400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr10:38661000-38666400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr10:38661000-38666400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr10:38661000-38667800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr10:38661000-38668000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr10:38661000-38668000	Weak transcription	HSMMtube	muscle
37	chr10:38661000-38668200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr10:38661000-38668200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr10:38661000-38668600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr10:38661000-38668800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:38661000-38668800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr10:38661000-38668800	Weak transcription	Fetal Brain Female	brain
43	chr10:38661000-38669000	Weak transcription	Fetal Intestine Large	intestine
44	chr10:38661000-38669400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr10:38661000-38669400	Weak transcription	Fetal Muscle Leg	muscle
46	chr10:38661000-38669800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr10:38661000-38670200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr10:38661000-38670200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr10:38661000-38670200	Weak transcription	Pancreas	Pancrea
50	chr10:38661000-38670600	Weak transcription	Primary T cells fromperipheralblood	blood

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