Variant report

Variant	rs8100289
Chromosome Location	chr19:21301211-21301212
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10164375	0.89[ASN][1000 genomes]
rs10401931	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10403266	0.85[ASN][1000 genomes]
rs10405180	0.94[ASN][1000 genomes]
rs10405218	0.88[ASN][1000 genomes]
rs10405406	0.94[ASN][1000 genomes]
rs10406661	0.89[ASN][1000 genomes]
rs10409844	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10409877	0.94[ASN][1000 genomes]
rs10410901	0.94[ASN][1000 genomes]
rs10411038	0.94[ASN][1000 genomes]
rs10412267	0.91[ASN][1000 genomes]
rs10412509	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10412688	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10413175	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10413692	0.93[EUR][1000 genomes]
rs10413983	0.91[ASN][1000 genomes]
rs10414134	0.91[ASN][1000 genomes]
rs10421819	0.89[ASN][1000 genomes]
rs10423541	0.92[ASN][1000 genomes]
rs10424283	0.91[ASN][1000 genomes]
rs10425969	0.88[ASN][1000 genomes]
rs11085431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11666640	0.88[ASN][1000 genomes]
rs11666869	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11667674	0.91[ASN][1000 genomes]
rs11668952	0.91[ASN][1000 genomes]
rs11668985	0.89[ASN][1000 genomes]
rs11669248	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11670162	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11671397	0.91[ASN][1000 genomes]
rs11672142	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11672727	0.91[ASN][1000 genomes]
rs11672747	0.91[ASN][1000 genomes]
rs11878599	0.91[ASN][1000 genomes]
rs12104220	0.91[ASN][1000 genomes]
rs12608706	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12608931	0.86[EUR][1000 genomes]
rs12609005	0.88[ASN][1000 genomes]
rs12609167	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12609427	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12609831	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12611115	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12973640	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12973921	0.91[ASN][1000 genomes]
rs12974016	0.94[ASN][1000 genomes]
rs12975789	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12976796	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12981855	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1470021	0.97[ASN][1000 genomes]
rs1470022	0.97[ASN][1000 genomes]
rs1609441	0.91[ASN][1000 genomes]
rs1968523	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2013048	0.91[ASN][1000 genomes]
rs2081055	0.83[EUR][1000 genomes]
rs2081056	0.83[EUR][1000 genomes]
rs2082003	0.94[ASN][1000 genomes]
rs2112803	0.86[EUR][1000 genomes]
rs2115493	0.91[ASN][1000 genomes]
rs2115494	0.91[ASN][1000 genomes]
rs2115495	0.91[ASN][1000 genomes]
rs2164988	0.83[ASN][1000 genomes]
rs2164989	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2195453	0.91[ASN][1000 genomes]
rs2195454	0.91[ASN][1000 genomes]
rs2358792	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2358795	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2358803	0.91[ASN][1000 genomes]
rs2358804	0.91[ASN][1000 genomes]
rs2884554	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35137761	0.94[ASN][1000 genomes]
rs4292035	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4365405	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4488591	0.91[ASN][1000 genomes]
rs4808275	0.94[ASN][1000 genomes]
rs4808276	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4809119	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4809122	0.97[ASN][1000 genomes]
rs62122564	0.83[EUR][1000 genomes]
rs62122565	0.83[EUR][1000 genomes]
rs6511179	0.86[EUR][1000 genomes]
rs6511183	0.88[ASN][1000 genomes]
rs6511184	0.88[ASN][1000 genomes]
rs6511186	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6511187	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6511188	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6511190	0.83[ASN][1000 genomes]
rs6511191	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6511192	0.94[ASN][1000 genomes]
rs6511194	0.94[ASN][1000 genomes]
rs6511195	0.94[ASN][1000 genomes]
rs6511196	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	0.91[ASN][1000 genomes]
rs7248087	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7248410	0.94[ASN][1000 genomes]
rs7249283	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7249736	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7250169	0.91[ASN][1000 genomes]
rs7253950	0.97[ASN][1000 genomes]
rs7254047	0.91[ASN][1000 genomes]
rs7254053	0.89[ASN][1000 genomes]
rs7254982	0.89[ASN][1000 genomes]
rs7257481	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7258195	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7258409	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7258831	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7260268	0.91[ASN][1000 genomes]
rs7260600	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7343175	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs741674	0.97[ASN][1000 genomes]
rs741676	0.97[ASN][1000 genomes]
rs8100599	0.91[ASN][1000 genomes]
rs8101222	0.94[ASN][1000 genomes]
rs8101412	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8101461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8103696	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8103825	0.94[ASN][1000 genomes]
rs8106801	0.91[ASN][1000 genomes]
rs8106923	0.97[ASN][1000 genomes]
rs8107638	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8107982	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8109549	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8111827	0.94[ASN][1000 genomes]
rs8112054	0.88[ASN][1000 genomes]
rs8112216	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8112500	0.94[ASN][1000 genomes]
rs8182465	0.94[ASN][1000 genomes]
rs9304980	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9304981	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9304982	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8100289	ZNF714	cis	Nerve Tibial	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21265600-21305200	Weak transcription	Psoas Muscle	Psoas
2	chr19:21265800-21302200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:21265800-21302800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr19:21265800-21303000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:21266200-21301600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21275400-21301400	Weak transcription	Fetal Brain Male	brain
7	chr19:21275400-21304600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr19:21284200-21302600	Weak transcription	Brain Substantia Nigra	brain
9	chr19:21284600-21306800	Weak transcription	Left Ventricle	heart
10	chr19:21285200-21302000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr19:21288600-21305400	Weak transcription	Fetal Heart	heart
12	chr19:21288800-21303600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:21290600-21303400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:21291600-21307800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:21294200-21302200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr19:21294600-21301800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:21296000-21303200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:21296200-21304400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:21296400-21306800	Weak transcription	NH-A	brain
20	chr19:21296600-21303600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:21297200-21301600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:21297200-21301600	Weak transcription	Fetal Stomach	stomach
23	chr19:21297200-21301800	Weak transcription	Esophagus	oesophagus
24	chr19:21297400-21301600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:21297400-21302800	Weak transcription	Fetal Intestine Small	intestine
26	chr19:21297600-21305000	Weak transcription	Fetal Lung	lung
27	chr19:21297600-21310600	Weak transcription	HepG2	liver
28	chr19:21297800-21301800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:21297800-21301800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr19:21297800-21303000	Weak transcription	Colon Smooth Muscle	Colon
31	chr19:21297800-21311200	Weak transcription	Right Ventricle	heart
32	chr19:21298400-21302000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:21298800-21303800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:21298800-21305800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr19:21299000-21301400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
36	chr19:21299000-21302200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:21299000-21303200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr19:21299000-21303400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr19:21299000-21305400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:21299200-21301800	Strong transcription	Osteobl	bone
41	chr19:21299200-21302000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr19:21299200-21302200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:21299200-21302400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:21299200-21302400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:21299200-21303000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr19:21299200-21303400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr19:21299200-21304000	Strong transcription	Fetal Brain Female	brain
48	chr19:21299200-21304200	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr19:21299600-21302200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr19:21299600-21302200	Strong transcription	Fetal Muscle Leg	muscle

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