Variant report

Variant	rs12609427
Chromosome Location	chr19:21310068-21310069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10164375	0.82[ASN][1000 genomes]
rs10401931	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10403266	0.81[EUR][1000 genomes]
rs10405180	0.92[ASN][1000 genomes]
rs10405218	0.81[ASN][1000 genomes]
rs10405406	0.93[ASN][1000 genomes]
rs10406661	0.82[ASN][1000 genomes]
rs10409844	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10409877	0.92[ASN][1000 genomes]
rs10410901	0.87[ASN][1000 genomes]
rs10411038	0.87[ASN][1000 genomes]
rs10412267	0.84[ASN][1000 genomes]
rs10412509	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10412688	0.97[EUR][1000 genomes]
rs10413175	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10413692	0.95[EUR][1000 genomes]
rs10413983	0.84[ASN][1000 genomes]
rs10414134	0.84[ASN][1000 genomes]
rs10421819	0.82[ASN][1000 genomes]
rs10423541	0.91[ASN][1000 genomes]
rs10424283	0.84[ASN][1000 genomes]
rs10425969	0.81[ASN][1000 genomes]
rs11085431	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11666640	0.81[ASN][1000 genomes]
rs11666869	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11667674	0.90[ASN][1000 genomes]
rs11668952	0.90[ASN][1000 genomes]
rs11668985	0.88[ASN][1000 genomes]
rs11669248	0.98[EUR][1000 genomes]
rs11670162	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11671397	0.90[ASN][1000 genomes]
rs11672142	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11672727	0.90[ASN][1000 genomes]
rs11672747	0.90[ASN][1000 genomes]
rs11878599	0.90[ASN][1000 genomes]
rs12104220	0.84[ASN][1000 genomes]
rs12608706	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12608931	0.89[EUR][1000 genomes]
rs12609005	0.81[ASN][1000 genomes]
rs12609167	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12609831	0.95[EUR][1000 genomes]
rs12611115	0.97[EUR][1000 genomes]
rs12973640	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12973921	0.90[ASN][1000 genomes]
rs12974016	0.87[ASN][1000 genomes]
rs12975789	0.97[EUR][1000 genomes]
rs12976796	0.95[EUR][1000 genomes]
rs12981855	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1470021	0.90[ASN][1000 genomes]
rs1470022	0.90[ASN][1000 genomes]
rs1609441	0.84[ASN][1000 genomes]
rs1968523	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2013048	0.84[ASN][1000 genomes]
rs2081055	0.85[EUR][1000 genomes]
rs2081056	0.85[EUR][1000 genomes]
rs2082003	0.84[ASN][1000 genomes]
rs2112803	0.89[EUR][1000 genomes]
rs2115493	0.90[ASN][1000 genomes]
rs2115494	0.90[ASN][1000 genomes]
rs2115495	0.90[ASN][1000 genomes]
rs2164989	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2195453	0.90[ASN][1000 genomes]
rs2195454	0.90[ASN][1000 genomes]
rs2358792	0.95[EUR][1000 genomes]
rs2358795	0.97[EUR][1000 genomes]
rs2358803	0.90[ASN][1000 genomes]
rs2358804	0.90[ASN][1000 genomes]
rs2884554	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34726293	0.80[EUR][1000 genomes]
rs35137761	0.87[ASN][1000 genomes]
rs4292035	0.95[EUR][1000 genomes]
rs4365405	0.97[EUR][1000 genomes]
rs4488591	0.84[ASN][1000 genomes]
rs4808275	0.87[ASN][1000 genomes]
rs4808276	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4809119	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4809122	0.90[ASN][1000 genomes]
rs62122564	0.85[EUR][1000 genomes]
rs62122565	0.85[EUR][1000 genomes]
rs6511179	0.89[EUR][1000 genomes]
rs6511183	0.81[ASN][1000 genomes]
rs6511184	0.81[ASN][1000 genomes]
rs6511186	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6511187	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6511188	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6511191	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6511192	0.87[ASN][1000 genomes]
rs6511194	0.87[ASN][1000 genomes]
rs6511195	0.87[ASN][1000 genomes]
rs6511196	0.92[ASN][1000 genomes]
rs6511198	0.90[ASN][1000 genomes]
rs6511199	0.90[ASN][1000 genomes]
rs6511200	0.90[ASN][1000 genomes]
rs6511201	0.90[ASN][1000 genomes]
rs7246723	0.84[ASN][1000 genomes]
rs7248087	0.95[EUR][1000 genomes]
rs7248410	0.87[ASN][1000 genomes]
rs7249283	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7249736	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7250169	0.84[ASN][1000 genomes]
rs7253950	0.90[ASN][1000 genomes]
rs7254047	0.84[ASN][1000 genomes]
rs7254053	0.85[ASN][1000 genomes]
rs7254982	0.82[ASN][1000 genomes]
rs7257481	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7258195	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7258409	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7258831	0.91[EUR][1000 genomes]
rs7260268	0.84[ASN][1000 genomes]
rs7260600	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7343175	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs741674	0.90[ASN][1000 genomes]
rs741676	0.90[ASN][1000 genomes]
rs8100289	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8100599	0.84[ASN][1000 genomes]
rs8101222	0.92[ASN][1000 genomes]
rs8101412	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8101461	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8103696	0.95[EUR][1000 genomes]
rs8103825	0.87[ASN][1000 genomes]
rs8106801	0.84[ASN][1000 genomes]
rs8106923	0.90[ASN][1000 genomes]
rs8107638	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8107982	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8109549	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109577	0.81[EUR][1000 genomes]
rs8111827	0.92[ASN][1000 genomes]
rs8112054	0.81[ASN][1000 genomes]
rs8112216	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8112500	0.87[ASN][1000 genomes]
rs8182465	0.87[ASN][1000 genomes]
rs9304980	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304981	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9304982	0.92[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12609427	ZNF714	cis	Nerve Tibial	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21297600-21310600	Weak transcription	HepG2	liver
2	chr19:21297800-21311200	Weak transcription	Right Ventricle	heart
3	chr19:21300400-21311600	Weak transcription	Fetal Kidney	kidney
4	chr19:21300600-21310600	Weak transcription	Fetal Intestine Large	intestine
5	chr19:21301000-21311800	Weak transcription	Ovary	ovary
6	chr19:21301200-21310800	Weak transcription	Primary T cells from cord blood	blood
7	chr19:21301200-21311800	Weak transcription	Fetal Thymus	thymus
8	chr19:21302200-21310400	Weak transcription	Esophagus	oesophagus
9	chr19:21302400-21312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:21303000-21311600	Weak transcription	Dnd41	blood
11	chr19:21303200-21310800	Weak transcription	Thymus	Thymus
12	chr19:21303200-21311200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr19:21303200-21311800	Weak transcription	Fetal Intestine Small	intestine
14	chr19:21303200-21312000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr19:21303200-21312600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:21303400-21311200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:21303800-21311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:21304200-21313000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr19:21305400-21311000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:21305400-21311200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:21305600-21312000	Weak transcription	Fetal Lung	lung
22	chr19:21305600-21312200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:21305800-21313000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:21305800-21313000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr19:21306000-21310600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:21306000-21311200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr19:21309400-21313400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr19:21309800-21311800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:21310000-21310600	Enhancers	K562	blood
30	chr19:21310000-21311200	Enhancers	Placenta Amnion	Placenta Amnion

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