Variant report

Variant	rs10405406
Chromosome Location	chr19:21305337-21305338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10164375	0.84[ASN][1000 genomes]
rs10401931	0.85[ASN][1000 genomes]
rs10405180	0.94[ASN][1000 genomes]
rs10405218	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10406661	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10409844	0.82[ASN][1000 genomes]
rs10409877	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10410901	0.88[ASN][1000 genomes]
rs10411038	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10412267	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10413175	0.85[ASN][1000 genomes]
rs10413983	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10414134	0.85[ASN][1000 genomes]
rs10417165	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10418706	0.83[EUR][1000 genomes]
rs10421819	0.84[ASN][1000 genomes]
rs10422193	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10423541	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10424283	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10425969	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11085424	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11085431	0.94[ASN][1000 genomes]
rs11666640	0.82[ASN][1000 genomes]
rs11666869	0.91[ASN][1000 genomes]
rs11667674	0.91[ASN][1000 genomes]
rs11668795	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11668952	0.91[ASN][1000 genomes]
rs11668985	0.89[ASN][1000 genomes]
rs11670162	0.85[ASN][1000 genomes]
rs11671397	0.91[ASN][1000 genomes]
rs11671894	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11672142	0.82[ASN][1000 genomes]
rs11672727	0.91[ASN][1000 genomes]
rs11672747	0.91[ASN][1000 genomes]
rs11878599	0.91[ASN][1000 genomes]
rs12104220	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12104387	0.87[EUR][1000 genomes]
rs12609005	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12609167	0.82[ASN][1000 genomes]
rs12609427	0.93[ASN][1000 genomes]
rs12609510	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12973640	0.85[ASN][1000 genomes]
rs12973921	0.91[ASN][1000 genomes]
rs12974016	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12981855	0.84[ASN][1000 genomes]
rs1470021	0.91[ASN][1000 genomes]
rs1470022	0.91[ASN][1000 genomes]
rs1609441	0.85[ASN][1000 genomes]
rs1968523	0.85[ASN][1000 genomes]
rs2013048	0.85[ASN][1000 genomes]
rs2081050	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2081052	0.81[AMR][1000 genomes]
rs2081057	0.83[EUR][1000 genomes]
rs2082003	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2098681	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2099648	0.87[EUR][1000 genomes]
rs2115493	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2115494	0.91[ASN][1000 genomes]
rs2115495	0.91[ASN][1000 genomes]
rs2164989	0.82[ASN][1000 genomes]
rs2195453	0.91[ASN][1000 genomes]
rs2195454	0.91[ASN][1000 genomes]
rs2358803	0.91[ASN][1000 genomes]
rs2358804	0.91[ASN][1000 genomes]
rs2884548	0.87[EUR][1000 genomes]
rs2884554	0.88[ASN][1000 genomes]
rs35137761	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4488591	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4808275	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4808276	0.91[ASN][1000 genomes]
rs4809122	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6511181	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6511183	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6511184	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6511185	0.83[AMR][1000 genomes]
rs6511186	0.85[ASN][1000 genomes]
rs6511188	0.85[ASN][1000 genomes]
rs6511190	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6511191	0.88[ASN][1000 genomes]
rs6511192	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6511194	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6511195	0.88[ASN][1000 genomes]
rs6511196	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6511198	0.91[ASN][1000 genomes]
rs6511199	0.91[ASN][1000 genomes]
rs6511200	0.91[ASN][1000 genomes]
rs6511201	0.91[ASN][1000 genomes]
rs7246723	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7247413	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7247553	0.87[EUR][1000 genomes]
rs7248410	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7249283	0.82[ASN][1000 genomes]
rs7249736	0.85[ASN][1000 genomes]
rs7250169	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7253530	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7253950	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7254047	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7254053	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7254722	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7254982	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7257481	0.85[ASN][1000 genomes]
rs7258195	0.85[ASN][1000 genomes]
rs7258409	0.85[ASN][1000 genomes]
rs7258477	0.87[EUR][1000 genomes]
rs7260268	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7260600	0.85[ASN][1000 genomes]
rs7343175	0.91[ASN][1000 genomes]
rs741674	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs741676	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8100289	0.94[ASN][1000 genomes]
rs8100599	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8101222	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8101412	0.85[ASN][1000 genomes]
rs8101461	0.94[ASN][1000 genomes]
rs8102966	0.87[EUR][1000 genomes]
rs8103825	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8106801	0.85[ASN][1000 genomes]
rs8106923	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8107638	0.88[ASN][1000 genomes]
rs8107982	0.82[ASN][1000 genomes]
rs8109549	0.89[ASN][1000 genomes]
rs8111827	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8112054	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8112216	0.82[ASN][1000 genomes]
rs8112500	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8182465	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9304980	0.82[ASN][1000 genomes]
rs9304982	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9941463	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	esv3319019	chr19:21268262-21336383	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv3319020	chr19:21268262-21336383	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv7695	chr19:21268276-21328430	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv5909	chr19:21272333-21334753	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	esv3420290	chr19:21272477-21336432	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	esv3391713	chr19:21272485-21334631	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	esv5243	chr19:21272548-21334670	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	esv7204	chr19:21274198-21336396	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
16	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
17	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21284600-21306800	Weak transcription	Left Ventricle	heart
2	chr19:21288600-21305400	Weak transcription	Fetal Heart	heart
3	chr19:21291600-21307800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:21296400-21306800	Weak transcription	NH-A	brain
5	chr19:21297600-21310600	Weak transcription	HepG2	liver
6	chr19:21297800-21311200	Weak transcription	Right Ventricle	heart
7	chr19:21298800-21305800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:21299000-21305400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:21300400-21305600	Weak transcription	Brain Hippocampus Middle	brain
10	chr19:21300400-21306600	Weak transcription	Hela-S3	cervix
11	chr19:21300400-21306800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr19:21300400-21306800	Weak transcription	NHEK	skin
13	chr19:21300400-21311600	Weak transcription	Fetal Kidney	kidney
14	chr19:21300600-21309600	Weak transcription	K562	blood
15	chr19:21300600-21310600	Weak transcription	Fetal Intestine Large	intestine
16	chr19:21300800-21306800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:21301000-21306800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:21301000-21311800	Weak transcription	Ovary	ovary
19	chr19:21301200-21310800	Weak transcription	Primary T cells from cord blood	blood
20	chr19:21301200-21311800	Weak transcription	Fetal Thymus	thymus
21	chr19:21301800-21307000	Weak transcription	Osteobl	bone
22	chr19:21302000-21306800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr19:21302200-21306600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr19:21302200-21307000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:21302200-21307000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:21302200-21309400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:21302200-21310400	Weak transcription	Esophagus	oesophagus
28	chr19:21302400-21308600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:21302400-21312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:21303000-21311600	Weak transcription	Dnd41	blood
31	chr19:21303200-21305400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:21303200-21305600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:21303200-21305600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:21303200-21309800	Weak transcription	Fetal Stomach	stomach
35	chr19:21303200-21310800	Weak transcription	Thymus	Thymus
36	chr19:21303200-21311200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr19:21303200-21311800	Weak transcription	Fetal Intestine Small	intestine
38	chr19:21303200-21312000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr19:21303200-21312600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr19:21303400-21311200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:21303800-21305600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:21303800-21311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:21304000-21308400	Weak transcription	Fetal Brain Female	brain
44	chr19:21304200-21305800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr19:21304200-21306000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr19:21304200-21313000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr19:21304600-21305600	Strong transcription	HSMM	muscle
48	chr19:21304600-21305600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr19:21304600-21305800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:21304800-21305800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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