Variant report

Variant	rs8019109
Chromosome Location	chr14:67794435-67794436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67791174..67795115-chr14:67798627..67801479,3	MCF-7	breast:

Extended variants
information (count: 135 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10129185	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10129779	0.80[AMR][1000 genomes]
rs10131212	0.82[AMR][1000 genomes]
rs10132093	0.85[ASN][1000 genomes]
rs10135727	0.82[AMR][1000 genomes]
rs10135903	0.82[AMR][1000 genomes]
rs10137026	0.82[AMR][1000 genomes]
rs10138824	0.82[AMR][1000 genomes]
rs10138932	0.80[AMR][1000 genomes]
rs10139953	0.87[ASN][1000 genomes]
rs10140817	0.82[AMR][1000 genomes]
rs10141180	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10143916	0.82[AMR][1000 genomes]
rs10144122	0.84[ASN][1000 genomes]
rs10144401	0.82[AMR][1000 genomes]
rs10144774	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10146389	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10146663	0.82[AMR][1000 genomes]
rs10146722	0.82[AMR][1000 genomes]
rs10149615	0.84[ASN][1000 genomes]
rs10150902	0.82[AMR][1000 genomes]
rs10151464	0.82[AMR][1000 genomes]
rs1044745	0.88[ASN][1000 genomes]
rs10873200	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11158655	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12586552	0.82[AMR][1000 genomes]
rs12586609	0.80[AMR][1000 genomes]
rs12588292	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12588388	0.80[AMR][1000 genomes]
rs12588458	0.85[ASN][1000 genomes]
rs12589091	0.82[AMR][1000 genomes]
rs12589606	0.82[AMR][1000 genomes]
rs12590065	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12590956	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1473732	0.85[ASN][1000 genomes]
rs1473733	0.82[AMR][1000 genomes]
rs1475128	0.82[AMR][1000 genomes]
rs1475129	0.82[AMR][1000 genomes]
rs1535489	0.82[AMR][1000 genomes]
rs1535490	0.82[AMR][1000 genomes]
rs1535491	0.82[AMR][1000 genomes]
rs17093616	0.82[AMR][1000 genomes]
rs17104103	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104106	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104202	0.85[ASN][1000 genomes]
rs17104223	0.82[AMR][1000 genomes]
rs17104224	0.82[AMR][1000 genomes]
rs17248567	0.82[AMR][1000 genomes]
rs17248616	0.82[AMR][1000 genomes]
rs17564263	0.82[AMR][1000 genomes]
rs17836702	0.82[AMR][1000 genomes]
rs1885589	0.82[AMR][1000 genomes]
rs1885590	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2031564	0.84[ASN][1000 genomes]
rs2057396	0.82[AMR][1000 genomes]
rs2094162	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2146229	0.82[AMR][1000 genomes]
rs2296561	0.85[ASN][1000 genomes]
rs2296562	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2296563	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2319777	0.85[ASN][1000 genomes]
rs28405138	0.82[AMR][1000 genomes]
rs28524846	0.82[AMR][1000 genomes]
rs28607485	0.82[AMR][1000 genomes]
rs28617290	0.82[AMR][1000 genomes]
rs28706091	0.82[AMR][1000 genomes]
rs28866617	0.80[AMR][1000 genomes]
rs3784081	0.82[AMR][1000 genomes]
rs3784085	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3809387	0.82[AMR][1000 genomes]
rs4058254	0.82[AMR][1000 genomes]
rs4058266	0.80[AMR][1000 genomes]
rs57025434	0.82[AMR][1000 genomes]
rs57154550	0.87[ASN][1000 genomes]
rs58257525	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60505324	0.87[ASN][1000 genomes]
rs61024303	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6573765	0.86[ASN][1000 genomes]
rs6573768	0.84[ASN][1000 genomes]
rs6573769	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66851210	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67968914	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68002629	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7144928	0.82[AMR][1000 genomes]
rs7153725	0.86[ASN][1000 genomes]
rs7153965	0.82[AMR][1000 genomes]
rs7154607	0.85[ASN][1000 genomes]
rs7157704	0.86[ASN][1000 genomes]
rs7158743	0.82[AMR][1000 genomes]
rs7158751	0.82[AMR][1000 genomes]
rs7160238	0.82[AMR][1000 genomes]
rs73276994	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73280987	0.86[ASN][1000 genomes]
rs73282706	0.82[AMR][1000 genomes]
rs73282707	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73282711	0.82[AMR][1000 genomes]
rs73282717	0.82[AMR][1000 genomes]
rs73282734	0.82[AMR][1000 genomes]
rs73282746	0.82[AMR][1000 genomes]
rs73282766	0.82[AMR][1000 genomes]
rs73282772	0.82[AMR][1000 genomes]
rs73282775	0.82[AMR][1000 genomes]
rs73282776	0.82[AMR][1000 genomes]
rs73282798	0.82[AMR][1000 genomes]
rs73284805	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73284892	0.84[ASN][1000 genomes]
rs8003327	0.84[ASN][1000 genomes]
rs8005756	0.85[ASN][1000 genomes]
rs8005876	0.85[ASN][1000 genomes]
rs8006042	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8007696	0.84[ASN][1000 genomes]
rs8007866	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8008443	0.81[ASN][1000 genomes]
rs8014104	0.82[AMR][1000 genomes]
rs8014259	0.82[AMR][1000 genomes]
rs8014966	0.82[AMR][1000 genomes]
rs8015302	0.82[AMR][1000 genomes]
rs8015641	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8015819	0.89[ASN][1000 genomes]
rs8016024	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8018623	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8019398	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8020850	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8021227	0.82[AMR][1000 genomes]
rs8021896	0.82[AMR][1000 genomes]
rs8021992	0.81[ASN][1000 genomes]
rs960797	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9743912	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv902065	chr14:67739285-67819602	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8019109	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL
rs8019109	ATP6V1D	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67721400-67798400	Weak transcription	Hela-S3	cervix
2	chr14:67732400-67810000	Weak transcription	Gastric	stomach
3	chr14:67735400-67798400	Weak transcription	K562	blood
4	chr14:67735600-67810000	Weak transcription	Aorta	Aorta
5	chr14:67737200-67801400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:67750000-67801400	Weak transcription	Fetal Heart	heart
7	chr14:67753600-67799200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:67756400-67799000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:67758400-67801400	Weak transcription	Small Intestine	intestine
10	chr14:67759800-67799800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:67762600-67799000	Weak transcription	Fetal Brain Female	brain
12	chr14:67762600-67825200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:67764400-67825200	Weak transcription	Stomach Mucosa	stomach
14	chr14:67767200-67797600	Weak transcription	Fetal Brain Male	brain
15	chr14:67767200-67799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:67767200-67804200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:67767200-67804600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:67767200-67825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:67768600-67825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:67769200-67804800	Weak transcription	Spleen	Spleen
21	chr14:67770200-67797400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:67770200-67799400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr14:67770600-67804000	Weak transcription	Right Ventricle	heart
24	chr14:67775000-67798400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr14:67776400-67794800	Strong transcription	Placenta	Placenta
26	chr14:67776800-67794600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:67777600-67794600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:67777800-67801600	Weak transcription	Esophagus	oesophagus
29	chr14:67780200-67798800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:67780200-67798800	Weak transcription	Brain Angular Gyrus	brain
31	chr14:67782000-67794600	Strong transcription	Fetal Intestine Large	intestine
32	chr14:67783000-67794600	Strong transcription	Liver	Liver
33	chr14:67785400-67797600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:67786400-67809200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:67786800-67794800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:67787000-67794600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:67788000-67797600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:67788200-67799200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:67788200-67799200	Weak transcription	Psoas Muscle	Psoas
40	chr14:67788600-67797200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr14:67788600-67798000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr14:67788600-67798600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:67788600-67799200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr14:67789000-67801600	Weak transcription	Colonic Mucosa	Colon
45	chr14:67789200-67798600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr14:67789200-67799600	Weak transcription	Brain Germinal Matrix	brain
47	chr14:67789200-67801400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr14:67789400-67804800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:67790400-67810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:67791600-67797600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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