Variant report

Variant	rs7071192
Chromosome Location	chr10:18846206-18846207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10741099	1.00[ASN][1000 genomes]
rs10764542	0.85[ASN][1000 genomes]
rs10764566	1.00[ASN][1000 genomes]
rs10764584	1.00[ASN][1000 genomes]
rs10828835	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10828859	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10828879	1.00[ASN][1000 genomes]
rs10828901	1.00[ASN][1000 genomes]
rs10828906	1.00[ASN][1000 genomes]
rs10828970	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10829038	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10829133	1.00[ASN][1000 genomes]
rs10829139	1.00[ASN][1000 genomes]
rs10829140	1.00[ASN][1000 genomes]
rs11014830	1.00[ASN][1000 genomes]
rs11014852	1.00[ASN][1000 genomes]
rs11015263	1.00[ASN][1000 genomes]
rs11015411	1.00[ASN][1000 genomes]
rs12359508	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569760	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12570585	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12765362	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12771084	0.90[ASN][1000 genomes]
rs12772534	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12776325	0.85[ASN][1000 genomes]
rs12781038	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352655	1.00[ASN][1000 genomes]
rs2691159	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4328135	0.91[ASN][1000 genomes]
rs4456162	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4475829	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4475830	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4484992	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4578284	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4634984	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4636555	0.87[EUR][1000 genomes]
rs4747353	1.00[ASN][1000 genomes]
rs4748474	0.90[ASN][1000 genomes]
rs4748475	0.85[ASN][1000 genomes]
rs4748480	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4748489	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4748491	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4748495	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4748508	1.00[ASN][1000 genomes]
rs6482516	1.00[ASN][1000 genomes]
rs6482529	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6482534	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6482545	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7068575	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7070695	1.00[ASN][1000 genomes]
rs7073651	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7075151	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7075304	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7077692	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7078884	0.90[ASN][1000 genomes]
rs7080903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081811	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7082094	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7084525	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7085332	0.90[ASN][1000 genomes]
rs7085587	0.90[ASN][1000 genomes]
rs7086034	0.90[ASN][1000 genomes]
rs7086911	0.91[ASN][1000 genomes]
rs7088214	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7090293	0.90[ASN][1000 genomes]
rs7091578	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7095070	1.00[ASN][1000 genomes]
rs7098313	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7098721	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7099975	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101269	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7895235	1.00[ASN][1000 genomes]
rs7895709	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7895775	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7920997	1.00[ASN][1000 genomes]
rs7921366	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:82 , 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	nsv511455	chr10:18837285-18854168	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
13	nsv550043	chr10:18837285-18859153	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
14	esv1814421	chr10:18839350-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	2 gene(s)	inside rSNPs	diseases
15	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
16	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
17	esv18824	chr10:18841137-18862749	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
18	esv1815720	chr10:18841795-18853581	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
19	nsv550045	chr10:18841795-18854685	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
20	nsv550046	chr10:18841795-18855161	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
21	nsv550047	chr10:18841795-18855755	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
22	esv1847851	chr10:18841795-18857730	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
23	esv1850351	chr10:18841795-18857730	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
24	nsv550048	chr10:18841795-18857730	Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
25	esv1808982	chr10:18841795-18858271	ZNF genes & repeats Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
26	esv1817510	chr10:18841795-18858271	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
27	nsv550049	chr10:18841795-18858271	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
28	nsv550050	chr10:18841795-18858664	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
29	nsv550051	chr10:18841795-18859450	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
30	nsv550052	chr10:18841795-18860469	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
31	nsv550053	chr10:18841795-18861203	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
32	nsv550054	chr10:18841795-18862122	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
33	esv1802087	chr10:18841795-18862211	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
34	esv1805552	chr10:18841795-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
35	esv1807060	chr10:18841795-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
36	esv1812459	chr10:18841795-18862211	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
37	esv1834849	chr10:18841795-18862211	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
38	esv1836472	chr10:18841795-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
39	esv1842030	chr10:18841795-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
40	esv1850544	chr10:18841795-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
41	nsv550055	chr10:18841795-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
42	nsv550056	chr10:18841795-18862728	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
43	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
44	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
45	nsv550057	chr10:18843332-18858203	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
46	nsv550058	chr10:18843332-18859153	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
47	esv1843559	chr10:18843332-18859450	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
48	nsv550059	chr10:18843332-18859450	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
49	nsv550060	chr10:18843332-18860138	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
50	nsv550061	chr10:18843332-18860469	Strong transcription Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7071192	RP11-499P20.2	cis	lung	GTEx
rs7071192	NSUN6	cis	Nerve Tibial	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18822000-18848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:18824200-18850600	Weak transcription	NHLF	lung
3	chr10:18829200-18851200	Weak transcription	Esophagus	oesophagus
4	chr10:18830200-18851000	Weak transcription	Thymus	Thymus
5	chr10:18830400-18856600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr10:18830600-18846600	Weak transcription	NH-A	brain
7	chr10:18831000-18850200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:18834400-18847800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr10:18838800-18849800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr10:18840400-18847000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:18840600-18851200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr10:18840800-18851000	Weak transcription	Psoas Muscle	Psoas
13	chr10:18840800-18867200	Weak transcription	Fetal Thymus	thymus
14	chr10:18841400-18848800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
15	chr10:18841600-18849600	ZNF genes & repeats	Fetal Intestine Large	intestine
16	chr10:18841600-18849800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr10:18841600-18850000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr10:18841600-18850000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr10:18841600-18850000	ZNF genes & repeats	Fetal Lung	lung
20	chr10:18841600-18851400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
21	chr10:18841600-18851800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
22	chr10:18841600-18854600	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr10:18841600-18856200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr10:18841800-18847000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
25	chr10:18841800-18849600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
26	chr10:18841800-18849800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr10:18841800-18850000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr10:18841800-18850000	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr10:18841800-18850000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr10:18841800-18853000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr10:18841800-18855400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:18842000-18847800	Weak transcription	Stomach Mucosa	stomach
33	chr10:18842000-18848600	Weak transcription	Placenta	Placenta
34	chr10:18842000-18849200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr10:18842000-18849200	ZNF genes & repeats	Fetal Brain Female	brain
36	chr10:18842000-18850000	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr10:18842000-18851400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr10:18842000-18853000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr10:18842000-18866800	Weak transcription	Left Ventricle	heart
40	chr10:18842000-18868400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr10:18842000-18869200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr10:18842000-18886400	Weak transcription	Colon Smooth Muscle	Colon
43	chr10:18842200-18847200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr10:18842400-18846600	ZNF genes & repeats	HepG2	liver
45	chr10:18842600-18847200	ZNF genes & repeats	Fetal Kidney	kidney
46	chr10:18842600-18849400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:18842600-18849800	Strong transcription	Primary B cells from peripheral blood	blood
48	chr10:18842600-18850000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:18842800-18850000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr10:18842800-18850000	ZNF genes & repeats	Dnd41	blood

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