Variant report

Variant	rs12608706
Chromosome Location	chr19:21236194-21236195
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:41398648..41400647-chr19:21234769..21236289,5	MCF-7	breast:

Extended variants
information (count: 119 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10164375	0.84[ASN][1000 genomes]
rs10401931	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10405218	0.83[ASN][1000 genomes]
rs10406661	0.84[ASN][1000 genomes]
rs10409844	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10410901	0.82[ASN][1000 genomes]
rs10411038	0.82[ASN][1000 genomes]
rs10412267	0.85[ASN][1000 genomes]
rs10412688	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10413175	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10413692	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10413983	0.85[ASN][1000 genomes]
rs10414134	0.85[ASN][1000 genomes]
rs10417165	0.82[ASN][1000 genomes]
rs10421819	0.87[ASN][1000 genomes]
rs10424283	0.85[ASN][1000 genomes]
rs10425969	0.88[ASN][1000 genomes]
rs11085424	0.82[ASN][1000 genomes]
rs11085431	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11666640	0.88[ASN][1000 genomes]
rs11666869	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11669248	0.91[EUR][1000 genomes]
rs11670162	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11672142	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12104220	0.85[ASN][1000 genomes]
rs12608931	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12609005	0.88[ASN][1000 genomes]
rs12609167	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12609427	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12609831	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12611115	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12973640	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12974016	0.82[ASN][1000 genomes]
rs12975789	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12976796	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12981855	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1609441	0.85[ASN][1000 genomes]
rs1968523	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1971815	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2013048	0.85[ASN][1000 genomes]
rs2081050	0.81[ASN][1000 genomes]
rs2081055	0.81[EUR][1000 genomes]
rs2081056	0.81[EUR][1000 genomes]
rs2098681	0.81[ASN][1000 genomes]
rs2112803	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2164988	0.90[ASN][1000 genomes]
rs2164989	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2358792	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2358795	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2884554	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35137761	0.82[ASN][1000 genomes]
rs4292035	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4365405	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4488591	0.85[ASN][1000 genomes]
rs4808275	0.82[ASN][1000 genomes]
rs4809119	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62122564	0.81[EUR][1000 genomes]
rs62122565	0.81[EUR][1000 genomes]
rs6511179	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6511181	0.81[ASN][1000 genomes]
rs6511183	0.88[ASN][1000 genomes]
rs6511184	0.88[ASN][1000 genomes]
rs6511185	0.80[ASN][1000 genomes]
rs6511186	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6511187	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6511188	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6511191	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6511192	0.82[ASN][1000 genomes]
rs6511194	0.82[ASN][1000 genomes]
rs6511195	0.82[ASN][1000 genomes]
rs7246723	0.85[ASN][1000 genomes]
rs7247413	0.82[ASN][1000 genomes]
rs7248087	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7248410	0.82[ASN][1000 genomes]
rs7249283	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7249736	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7250169	0.85[ASN][1000 genomes]
rs7250274	0.85[AFR][1000 genomes]
rs7252277	0.82[ASN][1000 genomes]
rs7253530	0.82[ASN][1000 genomes]
rs7254047	0.85[ASN][1000 genomes]
rs7254053	0.84[ASN][1000 genomes]
rs7254982	0.87[ASN][1000 genomes]
rs7257481	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7258195	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7258409	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7258831	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7260268	0.85[ASN][1000 genomes]
rs7260600	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7343175	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8100289	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8100599	0.85[ASN][1000 genomes]
rs8101412	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8101461	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8103696	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8103825	0.82[ASN][1000 genomes]
rs8106801	0.85[ASN][1000 genomes]
rs8107638	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8107982	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8109549	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8112054	0.88[ASN][1000 genomes]
rs8112216	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8112500	0.82[ASN][1000 genomes]
rs8113541	0.86[AFR][1000 genomes]
rs8182465	0.82[ASN][1000 genomes]
rs9304980	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9941463	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062776	chr19:20818886-21273361	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv932110	chr19:20818886-21278952	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic 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
3	esv2763043	chr19:20818886-21290543	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	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
5	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
6	esv1850387	chr19:21109758-21294264	Active TSS ZNF genes & repeats Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv911411	chr19:21184533-21263518	ZNF genes & repeats Weak transcription Enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases
8	nsv578949	chr19:21190572-21244049	ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	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
10	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
11	esv1805898	chr19:21233245-21256249	Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
12	nsv911412	chr19:21233388-21297358	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12608706	ZNF714	cis	Nerve Tibial	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21204400-21264800	Weak transcription	Right Ventricle	heart
2	chr19:21204600-21239800	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:21206200-21241600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:21207200-21239400	Weak transcription	Hela-S3	cervix
5	chr19:21212000-21241400	Weak transcription	Fetal Heart	heart
6	chr19:21221400-21242000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:21222400-21242200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:21223000-21244200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:21225600-21237200	Weak transcription	HUVEC	blood vessel
10	chr19:21227400-21241400	ZNF genes & repeats	GM12878-XiMat	blood
11	chr19:21227800-21247200	Weak transcription	HepG2	liver
12	chr19:21230600-21248400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:21230800-21237000	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:21230800-21238600	Weak transcription	NHLF	lung
15	chr19:21230800-21240400	Weak transcription	HSMMtube	muscle
16	chr19:21230800-21243000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:21231000-21238200	Weak transcription	Stomach Mucosa	stomach
18	chr19:21231000-21239000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:21231600-21239400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
20	chr19:21231600-21241000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr19:21231600-21241600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr19:21231800-21238600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr19:21231800-21244600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:21232200-21237000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:21232200-21237400	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr19:21232200-21238200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:21232200-21241000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
28	chr19:21232200-21241000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:21232200-21241200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
30	chr19:21232200-21242200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:21232200-21242400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr19:21232200-21243600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:21232600-21236400	Strong transcription	Fetal Lung	lung
34	chr19:21232600-21238000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr19:21232600-21238400	Weak transcription	Gastric	stomach
36	chr19:21232800-21241000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:21233400-21236200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:21233400-21236600	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr19:21233400-21236600	ZNF genes & repeats	Fetal Brain Female	brain
40	chr19:21233800-21238200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:21233800-21238800	Weak transcription	Fetal Brain Male	brain
42	chr19:21234000-21236600	Strong transcription	Fetal Stomach	stomach
43	chr19:21234000-21236600	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr19:21234200-21237800	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr19:21234200-21242400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:21234600-21241400	ZNF genes & repeats	Primary T cells from cord blood	blood
47	chr19:21234800-21236800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:21234800-21238400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr19:21235000-21237400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
50	chr19:21235000-21241200	ZNF genes & repeats	Duodenum Mucosa	Duodenum

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