Variant report

Variant	rs17595425
Chromosome Location	chr10:38713482-38713483
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11511146	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17595460	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17595473	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17595480	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17611348	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17611390	0.86[AFR][1000 genomes]
rs17611404	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17611446	0.92[ASN][1000 genomes]
rs2804650	0.85[ASN][1000 genomes]
rs3930236	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4934948	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61837215	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9340247	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9340277	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9730745	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9731089	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9732566	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	esv2757379	chr10:38677023-38978680	Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2759744	chr10:38677023-39154935	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv947860	chr10:38678275-38747483	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv895035	chr10:38678941-38739427	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv895036	chr10:38678941-38741100	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv895037	chr10:38678941-38741777	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv895038	chr10:38678941-38890240	ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1036840	chr10:38682579-39074038	ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv540569	chr10:38689167-38769822	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
15	esv16395	chr10:38693709-38772324	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv821215	chr10:38693709-38772324	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	nsv540570	chr10:38696654-38728292	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv540571	chr10:38696654-38743406	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv540572	chr10:38696654-38769822	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv1052697	chr10:38696664-39030136	Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv1043781	chr10:38696664-39074038	ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	nsv895039	chr10:38700234-38739557	Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv895040	chr10:38700234-38741100	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
24	nsv895041	chr10:38700234-38741777	Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv550420	chr10:38700234-38768341	Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
26	nsv895042	chr10:38700234-38775205	Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv895043	chr10:38700234-38790428	Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
28	nsv948260	chr10:38709794-38720728	Weak transcription Strong transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17595425	HSD17B7///HSD17B7P2///LOC730412	Cis_1M	lymphoblastoid	RTeQTL
rs17595425	ZNF37A///ZNF37B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38692200-38741000	Weak transcription	Aorta	Aorta
2	chr10:38692400-38739600	Weak transcription	Gastric	stomach
3	chr10:38692600-38716400	Weak transcription	Primary T cells from cord blood	blood
4	chr10:38692600-38736800	Weak transcription	Pancreas	Pancrea
5	chr10:38692600-38737200	Weak transcription	Esophagus	oesophagus
6	chr10:38692800-38714600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr10:38692800-38728800	Weak transcription	Brain Substantia Nigra	brain
8	chr10:38692800-38736800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr10:38692800-38736800	Weak transcription	Brain Anterior Caudate	brain
10	chr10:38692800-38736800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr10:38692800-38737200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:38692800-38737200	Weak transcription	Brain Hippocampus Middle	brain
13	chr10:38692800-38737400	Weak transcription	Fetal Intestine Large	intestine
14	chr10:38692800-38737600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:38692800-38741200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr10:38693000-38714000	Weak transcription	Right Ventricle	heart
17	chr10:38693000-38716000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:38693000-38736800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:38693000-38737200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:38693000-38737200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr10:38693000-38737200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr10:38693000-38737200	Weak transcription	Fetal Muscle Leg	muscle
23	chr10:38693000-38737400	Weak transcription	Placenta	Placenta
24	chr10:38693000-38739200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr10:38698600-38713800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:38698600-38738800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:38698800-38729600	Weak transcription	Left Ventricle	heart
28	chr10:38698800-38736800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr10:38698800-38736800	Weak transcription	Lung	lung
30	chr10:38700200-38739600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:38700600-38736800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr10:38700600-38736800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr10:38700800-38715000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr10:38700800-38737200	Weak transcription	Fetal Stomach	stomach
35	chr10:38703000-38736800	Weak transcription	Fetal Intestine Small	intestine
36	chr10:38704800-38736800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:38705400-38719200	Weak transcription	Liver	Liver
38	chr10:38706400-38736800	Weak transcription	Ovary	ovary
39	chr10:38707600-38738800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr10:38710400-38737400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr10:38711200-38739600	Weak transcription	Adipose Nuclei	Adipose

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