Variant report

Variant	rs12269605
Chromosome Location	chr10:18862122-18862123
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10466095	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10508564	0.93[AFR][1000 genomes]
rs11014651	1.00[AMR][1000 genomes]
rs11014769	1.00[AMR][1000 genomes]
rs11014986	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11014994	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11015019	0.95[AFR][1000 genomes]
rs11015036	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11015184	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11015443	0.97[AFR][1000 genomes]
rs11498244	0.84[AFR][1000 genomes]
rs12243188	0.82[AFR][1000 genomes]
rs12246317	0.92[AFR][1000 genomes]
rs12246433	0.92[AFR][1000 genomes]
rs12247548	0.84[AFR][1000 genomes]
rs12247869	0.92[AFR][1000 genomes]
rs12250601	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12255014	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12258306	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12258688	0.97[AFR][1000 genomes]
rs12267405	1.00[AMR][1000 genomes]
rs12267659	0.93[AFR][1000 genomes]
rs16917423	1.00[AMR][1000 genomes]
rs16917589	0.90[AFR][1000 genomes]
rs16917615	0.89[AFR][1000 genomes]
rs16917628	0.92[AFR][1000 genomes]
rs17363677	0.95[AFR][1000 genomes]
rs4614337	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59666381	0.83[AFR][1000 genomes]
rs7100918	0.87[AFR][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	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	nsv550054	chr10:18841795-18862122	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
17	esv1802087	chr10:18841795-18862211	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
18	esv1805552	chr10:18841795-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
19	esv1807060	chr10:18841795-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
20	esv1812459	chr10:18841795-18862211	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
21	esv1834849	chr10:18841795-18862211	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
22	esv1836472	chr10:18841795-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
23	esv1842030	chr10:18841795-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
24	esv1850544	chr10:18841795-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
25	nsv550055	chr10:18841795-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
26	nsv550056	chr10:18841795-18862728	ZNF genes & repeats Strong transcription Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
27	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
28	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
29	nsv550063	chr10:18843332-18862122	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
30	nsv550064	chr10:18843332-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
31	nsv550076	chr10:18846155-18862122	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
32	esv1809399	chr10:18846155-18862211	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
33	esv1815913	chr10:18846155-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
34	esv1838942	chr10:18846155-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
35	esv1838957	chr10:18846155-18862211	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
36	esv1841381	chr10:18846155-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
37	nsv550077	chr10:18846155-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
38	esv1807864	chr10:18846206-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
39	nsv550083	chr10:18846206-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
40	nsv550086	chr10:18846312-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
41	nsv550094	chr10:18847555-18862122	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
42	nsv550095	chr10:18847555-18862211	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
43	nsv550097	chr10:18848747-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
44	nsv550101	chr10:18849963-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
45	nsv550105	chr10:18851335-18862211	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
46	esv20509	chr10:18852387-18862559	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases
47	nsv550108	chr10:18853412-18862211	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
48	esv1812006	chr10:18853581-18862211	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
49	nsv550112	chr10:18853581-18862211	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
50	esv1801825	chr10:18853581-18872699	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 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	chr10:18859600-18868600	Weak transcription	K562	blood
21	chr10:18860000-18863200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr10:18860400-18863200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:18861000-18862400	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr10:18861000-18862400	ZNF genes & repeats	Liver	Liver
25	chr10:18861000-18883200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:18861200-18862400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr10:18861400-18864000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr10:18861600-18862200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:18861600-18862400	ZNF genes & repeats	Fetal Intestine Large	intestine
30	chr10:18861600-18866200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:18861600-18867000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr10:18861800-18862200	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr10:18861800-18862200	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr10:18861800-18863400	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr10:18861800-18869000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:18862000-18862200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:18862000-18862200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:18862000-18862400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:18862000-18866200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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