Variant report

Variant	rs62639182
Chromosome Location	chr10:38798370-38798371
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10764167	0.87[AFR][1000 genomes]
rs10827872	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10827874	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10827876	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10827880	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10870374	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11011566	0.83[AFR][1000 genomes]
rs11011569	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11011575	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11011586	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11011590	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11011592	0.87[AMR][1000 genomes]
rs11011605	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597331	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11813263	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12256706	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12257209	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12767694	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12776671	0.87[AFR][1000 genomes]
rs12780442	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12782365	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2754385	0.82[ASN][1000 genomes]
rs28692534	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34264447	0.83[ASN][1000 genomes]
rs34285563	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35857797	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4934950	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4934954	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4934955	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55887920	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58689189	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60920733	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61095061	0.88[AFR][1000 genomes]
rs62638253	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7075708	0.96[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7078488	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7080742	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7080985	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7095936	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs763806	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7912997	0.81[ASN][1000 genomes]
rs7918343	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9731050	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	esv2762857	chr10:38733507-39076221	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv550422	chr10:38741777-38888745	Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv947861	chr10:38747483-38818835	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv550423	chr10:38751950-39154633	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv948264	chr10:38760967-38818835	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	esv3382895	chr10:38771146-38818835	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
17	esv3325401	chr10:38771246-38818835	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
18	esv3362690	chr10:38771246-38818835	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
19	esv3409840	chr10:38771246-38818835	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
20	esv3433191	chr10:38771246-38818835	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
21	esv3433360	chr10:38771246-38818835	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
22	nsv820427	chr10:38772325-38818622	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
23	esv15082	chr10:38772522-38818622	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
24	esv3422361	chr10:38773902-39120597	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv550425	chr10:38774877-38806839	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
26	nsv550426	chr10:38774877-38818700	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
27	nsv550427	chr10:38774877-38873777	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
28	nsv550428	chr10:38774877-38881731	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
29	nsv550429	chr10:38774877-38886805	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
30	nsv550430	chr10:38776846-38801009	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	lncRNA	n/a	inside rSNPs	diseases
31	nsv550431	chr10:38776846-38818700	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
32	nsv550433	chr10:38778034-38818700	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
33	nsv550434	chr10:38778034-39154633	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
34	nsv550435	chr10:38781038-38810566	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
35	nsv550436	chr10:38781038-38818700	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
36	esv4010	chr10:38782201-38817916	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
37	nsv550437	chr10:38787591-38818700	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
38	nsv550438	chr10:38790276-38804312	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
39	nsv550439	chr10:38790276-38810566	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
40	nsv550440	chr10:38790276-38810878	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
41	nsv550441	chr10:38790276-38818700	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
42	nsv550442	chr10:38790276-38874959	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
43	nsv550443	chr10:38790276-38875947	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
44	nsv550444	chr10:38790276-38882447	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
45	nsv550445	chr10:38790428-38801009	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	lncRNA	n/a	inside rSNPs	diseases
46	nsv550446	chr10:38790428-38810566	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
47	nsv550447	chr10:38792507-38801009	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	lncRNA	n/a	inside rSNPs	diseases
48	nsv550448	chr10:38792507-38885167	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
49	nsv550449	chr10:38794982-38818700	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
50	nsv550450	chr10:38794982-38888335	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62639182	HSD17B7P2	cis	Whole Blood	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38772400-38802400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:38772400-38802400	ZNF genes & repeats	Brain Angular Gyrus	brain
3	chr10:38772400-38818800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr10:38772400-38818800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr10:38772400-38818800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr10:38772400-38818800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr10:38772400-38818800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr10:38772400-38818800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
9	chr10:38772400-38818800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr10:38772400-38818800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr10:38772400-38818800	ZNF genes & repeats	Primary T cells from cord blood	blood
12	chr10:38772400-38818800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr10:38772400-38818800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr10:38772400-38818800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
15	chr10:38772400-38818800	ZNF genes & repeats	Brain Anterior Caudate	brain
16	chr10:38772400-38818800	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr10:38772400-38818800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr10:38772400-38818800	ZNF genes & repeats	Brain Substantia Nigra	brain
19	chr10:38772400-38818800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr10:38772400-38818800	ZNF genes & repeats	Fetal Brain Male	brain
21	chr10:38772400-38818800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr10:38772400-38818800	ZNF genes & repeats	Fetal Lung	lung
23	chr10:38772400-38818800	ZNF genes & repeats	Gastric	stomach
24	chr10:38772400-38818800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
25	chr10:38772400-38818800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
26	chr10:38772400-38818800	ZNF genes & repeats	Dnd41	blood
27	chr10:38772400-38818800	ZNF genes & repeats	GM12878-XiMat	blood
28	chr10:38772400-38819000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr10:38772400-38819000	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr10:38772400-38819000	ZNF genes & repeats	Liver	Liver
31	chr10:38772400-38819000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr10:38772400-38819000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr10:38772600-38806600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
34	chr10:38772600-38818800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
35	chr10:38772600-38818800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
36	chr10:38772600-38818800	ZNF genes & repeats	Fetal Kidney	kidney
37	chr10:38772600-38818800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
38	chr10:38772800-38818800	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr10:38773000-38818800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
40	chr10:38773800-38818800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr10:38774800-38818800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:38781200-38814000	ZNF genes & repeats	HepG2	liver
43	chr10:38784400-38802000	ZNF genes & repeats	Colonic Mucosa	Colon
44	chr10:38784600-38804800	ZNF genes & repeats	K562	blood
45	chr10:38784600-38818800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
46	chr10:38784800-38798800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr10:38784800-38809000	ZNF genes & repeats	HUVEC	blood vessel
48	chr10:38786200-38818800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:38786400-38809000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
50	chr10:38787800-38818800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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