Variant report

Variant	rs62634838
Chromosome Location	chr10:18854884-18854885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10430567	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1055116	0.82[AMR][1000 genomes]
rs10734063	0.86[AMR][1000 genomes]
rs10741111	0.81[ASN][1000 genomes]
rs10741115	0.88[AMR][1000 genomes]
rs10741129	0.81[AMR][1000 genomes]
rs10764582	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10764583	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs10764600	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10764601	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10764602	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10764603	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10764604	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10764605	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10764625	0.84[ASN][1000 genomes]
rs10764640	0.84[AMR][1000 genomes]
rs10828851	0.80[AMR][1000 genomes]
rs10828870	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs10828871	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10828872	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10828896	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10828911	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10828965	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10828967	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10828975	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10828983	0.86[ASN][1000 genomes]
rs10828991	0.84[ASN][1000 genomes]
rs10829009	0.84[ASN][1000 genomes]
rs10829022	0.87[AMR][1000 genomes]
rs10829037	0.87[AMR][1000 genomes]
rs10829039	0.88[AMR][1000 genomes]
rs10829058	0.85[AMR][1000 genomes]
rs10829060	0.86[AMR][1000 genomes]
rs10829070	0.85[AMR][1000 genomes]
rs10829151	0.86[AMR][1000 genomes]
rs11014892	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11015048	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11015077	0.86[ASN][1000 genomes]
rs11015196	0.88[AMR][1000 genomes]
rs11015255	0.81[AMR][1000 genomes]
rs11015312	0.86[AMR][1000 genomes]
rs11015421	0.86[AMR][1000 genomes]
rs11525266	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12219183	0.83[AMR][1000 genomes]
rs12359758	0.86[AMR][1000 genomes]
rs12569474	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12569487	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12570792	0.80[AFR][1000 genomes]
rs2272274	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs3740102	0.85[AMR][1000 genomes]
rs3817494	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4747350	0.82[AMR][1000 genomes]
rs4748488	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4748492	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5022622	0.84[ASN][1000 genomes]
rs56410858	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57066269	0.85[AMR][1000 genomes]
rs57579336	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62634837	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62636218	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6482533	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6482597	0.82[AMR][1000 genomes]
rs7077722	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7079325	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7081461	0.81[ASN][1000 genomes]
rs7081690	0.83[AMR][1000 genomes]
rs7081977	0.86[AMR][1000 genomes]
rs7087030	0.82[AMR][1000 genomes]
rs7099260	0.86[AMR][1000 genomes]
rs7100880	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72787951	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72787963	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7477076	0.83[ASN][1000 genomes]
rs7894016	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7895784	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7898781	0.86[AMR][1000 genomes]
rs7899017	0.86[AMR][1000 genomes]
rs7901598	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7904263	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7917584	0.85[AMR][1000 genomes]
rs7919487	0.81[ASN][1000 genomes]
rs7922550	0.81[AMR][1000 genomes]
rs7922829	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34545	chr10:18821185-18908294	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	esv1793653	chr10:18827828-18888369	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv1794817	chr10:18827828-18888369	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv1811259	chr10:18827828-18888369	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv1840241	chr10:18827828-18888369	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	esv1841068	chr10:18827828-18888369	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	esv1851495	chr10:18827828-18888369	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	esv1835982	chr10:18833550-18872699	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2757371	chr10:18835325-18906507	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv2759736	chr10:18835325-18906507	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv550043	chr10:18837285-18859153	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
13	esv1814421	chr10:18839350-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
14	nsv466760	chr10:18839350-18905935	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv550044	chr10:18839350-18905935	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	esv18824	chr10:18841137-18862749	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
17	nsv550046	chr10:18841795-18855161	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
18	nsv550047	chr10:18841795-18855755	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
19	esv1847851	chr10:18841795-18857730	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
20	esv1850351	chr10:18841795-18857730	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
21	nsv550048	chr10:18841795-18857730	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
22	esv1808982	chr10:18841795-18858271	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
23	esv1817510	chr10:18841795-18858271	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
24	nsv550049	chr10:18841795-18858271	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
25	nsv550050	chr10:18841795-18858664	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
26	nsv550051	chr10:18841795-18859450	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
27	nsv550052	chr10:18841795-18860469	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
28	nsv550053	chr10:18841795-18861203	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
29	nsv550054	chr10:18841795-18862122	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
30	esv1802087	chr10:18841795-18862211	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
31	esv1805552	chr10:18841795-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
32	esv1807060	chr10:18841795-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
33	esv1812459	chr10:18841795-18862211	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
34	esv1834849	chr10:18841795-18862211	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
35	esv1836472	chr10:18841795-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
36	esv1842030	chr10:18841795-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
37	esv1850544	chr10:18841795-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
38	nsv550055	chr10:18841795-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
39	nsv550056	chr10:18841795-18862728	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
40	esv1845973	chr10:18841795-18872699	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
41	esv1793359	chr10:18841795-18872872	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
42	nsv550057	chr10:18843332-18858203	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
43	nsv550058	chr10:18843332-18859153	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
44	esv1843559	chr10:18843332-18859450	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
45	nsv550059	chr10:18843332-18859450	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
46	nsv550060	chr10:18843332-18860138	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
47	nsv550061	chr10:18843332-18860469	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
48	nsv550062	chr10:18843332-18861203	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
49	nsv550063	chr10:18843332-18862122	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
50	nsv550064	chr10:18843332-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs62634838	RP11-499P20.2	cis	Esophagus Mucosa	GTEx
rs62634838	RP11-499P20.2	cis	Thyroid	GTEx
rs62634838	RP11-499P20.2	cis	Whole Blood	GTEx
rs62634838	NSUN6	cis	lung	GTEx
rs62634838	RP11-499P20.2	cis	lung	GTEx
rs62634838	ARL5B	Cis_1M	lymphoblastoid	RTeQTL
rs62634838	ARL5B	cis	Whole Blood	GTEx
rs62634838	RP11-499P20.2	cis	Nerve Tibial	GTEx
rs62634838	NSUN6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18830400-18856600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr10:18840800-18867200	Weak transcription	Fetal Thymus	thymus
3	chr10:18841600-18856200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr10:18841800-18855400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:18842000-18866800	Weak transcription	Left Ventricle	heart
6	chr10:18842000-18868400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr10:18842000-18869200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr10:18842000-18886400	Weak transcription	Colon Smooth Muscle	Colon
9	chr10:18844000-18871000	Weak transcription	Fetal Heart	heart
10	chr10:18846200-18899200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:18846400-18866600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr10:18846600-18866600	Weak transcription	Pancreas	Pancrea
13	chr10:18848400-18915800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr10:18848800-18866800	Weak transcription	Aorta	Aorta
15	chr10:18849000-18868600	Weak transcription	Gastric	stomach
16	chr10:18849400-18866200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:18849800-18910800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:18850000-18865600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr10:18850800-18856000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:18850800-18856600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr10:18851200-18860200	ZNF genes & repeats	Liver	Liver
22	chr10:18851400-18855200	Weak transcription	K562	blood
23	chr10:18852600-18864800	Weak transcription	Ovary	ovary
24	chr10:18853200-18866800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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