Variant report

Variant	rs7068575
Chromosome Location	chr10:18860594-18860595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10741099	0.95[ASN][1000 genomes]
rs10764542	0.81[ASN][1000 genomes]
rs10764566	0.95[ASN][1000 genomes]
rs10764584	0.95[ASN][1000 genomes]
rs10828835	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10828859	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10828879	0.95[ASN][1000 genomes]
rs10828901	0.95[ASN][1000 genomes]
rs10828906	0.95[ASN][1000 genomes]
rs10828970	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10829038	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10829041	0.82[AFR][1000 genomes]
rs10829133	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10829139	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10829140	0.95[ASN][1000 genomes]
rs11014830	0.95[ASN][1000 genomes]
rs11014852	0.95[ASN][1000 genomes]
rs11015263	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11015411	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12359508	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12412484	0.81[AFR][1000 genomes]
rs12569760	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12570585	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12765362	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12771084	0.85[ASN][1000 genomes]
rs12772534	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12776325	0.81[ASN][1000 genomes]
rs12781038	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1352655	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1968961	0.81[AFR][1000 genomes]
rs2691159	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4328135	0.86[ASN][1000 genomes]
rs4456162	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4475829	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4475830	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4484992	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4578284	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4634984	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4636555	0.91[EUR][1000 genomes]
rs4747353	0.95[ASN][1000 genomes]
rs4748474	0.85[ASN][1000 genomes]
rs4748475	0.81[ASN][1000 genomes]
rs4748480	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4748489	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4748491	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4748495	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4748503	0.81[AFR][1000 genomes]
rs4748508	0.95[ASN][1000 genomes]
rs6482516	0.95[ASN][1000 genomes]
rs6482529	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6482534	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6482545	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7070695	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7071192	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7073651	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7075151	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7075304	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7077692	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7078884	0.85[ASN][1000 genomes]
rs7080903	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7081811	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7082094	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7084525	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7085332	0.85[ASN][1000 genomes]
rs7085587	0.85[ASN][1000 genomes]
rs7086034	0.85[ASN][1000 genomes]
rs7086911	0.86[ASN][1000 genomes]
rs7088214	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7090293	0.85[ASN][1000 genomes]
rs7091578	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7095070	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7098313	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7098721	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7099975	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7101269	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7895235	0.95[ASN][1000 genomes]
rs7895709	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7895775	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7920997	0.95[ASN][1000 genomes]
rs7921366	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

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	esv1814421	chr10:18839350-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
13	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
14	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
15	esv18824	chr10:18841137-18862749	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
16	nsv550053	chr10:18841795-18861203	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
17	nsv550054	chr10:18841795-18862122	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
18	esv1802087	chr10:18841795-18862211	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
19	esv1805552	chr10:18841795-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
20	esv1807060	chr10:18841795-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
21	esv1812459	chr10:18841795-18862211	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
22	esv1834849	chr10:18841795-18862211	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
23	esv1836472	chr10:18841795-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
24	esv1842030	chr10:18841795-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
25	esv1850544	chr10:18841795-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
26	nsv550055	chr10:18841795-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
27	nsv550056	chr10:18841795-18862728	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
28	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
29	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
30	nsv550062	chr10:18843332-18861203	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
31	nsv550063	chr10:18843332-18862122	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
32	nsv550064	chr10:18843332-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
33	nsv550066	chr10:18844621-18860594	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
34	nsv550074	chr10:18846155-18860594	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
35	nsv550075	chr10:18846155-18861203	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
36	nsv550076	chr10:18846155-18862122	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
37	esv1809399	chr10:18846155-18862211	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
38	esv1815913	chr10:18846155-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
39	esv1838942	chr10:18846155-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
40	esv1838957	chr10:18846155-18862211	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
41	esv1841381	chr10:18846155-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
42	nsv550077	chr10:18846155-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
43	nsv550082	chr10:18846206-18861203	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
44	esv1807864	chr10:18846206-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
45	nsv550083	chr10:18846206-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
46	nsv550086	chr10:18846312-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
47	nsv550093	chr10:18847555-18860594	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
48	esv1838905	chr10:18847555-18861203	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
49	nsv550094	chr10:18847555-18862122	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
50	nsv550095	chr10:18847555-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7068575	RP11-499P20.2	cis	lung	GTEx
rs7068575	NSUN6	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18840800-18867200	Weak transcription	Fetal Thymus	thymus
2	chr10:18842000-18866800	Weak transcription	Left Ventricle	heart
3	chr10:18842000-18868400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:18842000-18869200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr10:18842000-18886400	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:18844000-18871000	Weak transcription	Fetal Heart	heart
7	chr10:18846200-18899200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:18846400-18866600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr10:18846600-18866600	Weak transcription	Pancreas	Pancrea
10	chr10:18848400-18915800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr10:18848800-18866800	Weak transcription	Aorta	Aorta
12	chr10:18849000-18868600	Weak transcription	Gastric	stomach
13	chr10:18849400-18866200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:18849800-18910800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:18850000-18865600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr10:18852600-18864800	Weak transcription	Ovary	ovary
17	chr10:18853200-18866800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr10:18855000-18862200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr10:18858000-18863200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr10:18858200-18861200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:18858400-18861200	ZNF genes & repeats	Fetal Lung	lung
22	chr10:18859600-18868600	Weak transcription	K562	blood
23	chr10:18860000-18863200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
24	chr10:18860400-18863200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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