Variant report

Variant	rs6573768
Chromosome Location	chr14:67824953-67824954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr14:67824704-67825021	K562	blood:	n/a	n/a
2	POLR2A	chr14:67824743-67825120	K562	blood:	n/a	n/a
3	CHD1	chr14:67824371-67828204	IMR90	lung:	n/a	chr14:67826150-67826157
4	FOS	chr14:67824767-67825078	MCF10A-Er-Src	breast:	n/a	n/a
5	YY1	chr14:67824674-67825010	K562	blood:	n/a	n/a
6	ATF1	chr14:67824513-67825058	K562	blood:	n/a	n/a
7	TBL1XR1	chr14:67823796-67825164	K562	blood:	n/a	n/a
8	TAL1	chr14:67824764-67824960	K562	blood:	n/a	n/a
9	RCOR1	chr14:67824299-67825505	K562	blood:	n/a	n/a
10	YY1	chr14:67824576-67824982	K562	blood:	n/a	n/a
11	TBP	chr14:67824361-67825109	K562	blood:	n/a	n/a
12	EGR1	chr14:67824568-67825041	K562	blood:	n/a	n/a
13	FOS	chr14:67824771-67825063	MCF10A-Er-Src	breast:	n/a	n/a
14	MAFF	chr14:67824711-67825098	K562	blood:	n/a	n/a
15	TAF1	chr14:67824694-67825039	K562	blood:	n/a	n/a
16	MAFK	chr14:67824767-67825068	K562	blood:	n/a	n/a
17	EGR1	chr14:67824614-67824996	K562	blood:	n/a	n/a
18	ZBTB7A	chr14:67824696-67824977	K562	blood:	n/a	n/a
19	UBTF	chr14:67824842-67825061	K562	blood:	n/a	n/a
20	STAT3	chr14:67824930-67824978	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr14:67824292-67825074	K562	blood:	n/a	n/a
22	HEY1	chr14:67824737-67825072	K562	blood:	n/a	n/a
23	JUND	chr14:67824346-67825198	K562	blood:	n/a	chr14:67825073-67825083 chr14:67825073-67825083
24	ARID3A	chr14:67824427-67825059	K562	blood:	n/a	n/a
25	MAFK	chr14:67824865-67824958	HepG2	liver:	n/a	n/a
26	JUN	chr14:67824567-67825143	K562	blood:	n/a	chr14:67825073-67825083 chr14:67825073-67825083
27	FOS	chr14:67824575-67825090	MCF10A-Er-Src	breast:	n/a	chr14:67825073-67825083 chr14:67825073-67825083
28	POLR2A	chr14:67824625-67824971	K562	blood:	n/a	n/a
29	ATF3	chr14:67824705-67825016	K562	blood:	n/a	n/a
30	FOS	chr14:67824667-67825059	MCF10A-Er-Src	breast:	n/a	n/a
31	ZBTB7A	chr14:67824612-67824966	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67822941..67825500-chr14:67825537..67827471,2	K562	blood:
2	chr14:67824897..67826602-chr14:67827148..67830067,2	K562	blood:

Variant related genes	Relation type
EIF2S1	TF binding region
ENSG00000100554	Chromatin interaction
ENSG00000134001	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1006595	0.81[ASN][1000 genomes]
rs10129185	0.92[ASN][1000 genomes]
rs10131984	0.91[EUR][1000 genomes]
rs10132093	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10138850	0.90[EUR][1000 genomes]
rs10138865	0.90[EUR][1000 genomes]
rs10139953	0.91[ASN][1000 genomes]
rs10141180	0.93[ASN][1000 genomes]
rs10144122	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10144774	0.92[ASN][1000 genomes]
rs10145508	0.88[EUR][1000 genomes]
rs10145511	0.91[EUR][1000 genomes]
rs10146389	0.82[ASN][1000 genomes]
rs10147362	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10149615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150082	0.82[EUR][1000 genomes]
rs1044745	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11158653	0.86[EUR][1000 genomes]
rs12588292	0.89[ASN][1000 genomes]
rs12588458	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12590065	0.92[ASN][1000 genomes]
rs1473732	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17104114	0.82[EUR][1000 genomes]
rs17104202	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1885590	0.82[ASN][1000 genomes]
rs1918483	0.91[EUR][1000 genomes]
rs2031564	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094162	0.90[ASN][1000 genomes]
rs2148160	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2281676	0.90[EUR][1000 genomes]
rs2296561	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2296562	0.91[ASN][1000 genomes]
rs2296563	0.90[ASN][1000 genomes]
rs2319777	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28521373	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3784085	0.91[ASN][1000 genomes]
rs3844530	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4636843	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57154550	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs58257525	0.91[ASN][1000 genomes]
rs60505324	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61612119	0.95[EUR][1000 genomes]
rs6573758	0.95[EUR][1000 genomes]
rs6573760	0.95[EUR][1000 genomes]
rs6573765	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6573769	0.93[ASN][1000 genomes]
rs6573770	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66851210	0.92[ASN][1000 genomes]
rs67968914	0.93[ASN][1000 genomes]
rs68002629	0.88[ASN][1000 genomes]
rs7147207	0.91[EUR][1000 genomes]
rs7148044	0.89[EUR][1000 genomes]
rs7148425	0.91[EUR][1000 genomes]
rs7151898	0.91[EUR][1000 genomes]
rs7153725	0.90[ASN][1000 genomes]
rs7154607	0.89[ASN][1000 genomes]
rs7156119	0.91[EUR][1000 genomes]
rs7157704	0.90[ASN][1000 genomes]
rs73279056	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73280987	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73282707	0.86[ASN][1000 genomes]
rs73284892	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8003327	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8004148	0.82[EUR][1000 genomes]
rs8004488	0.95[EUR][1000 genomes]
rs8005756	0.89[ASN][1000 genomes]
rs8005876	0.89[ASN][1000 genomes]
rs8005981	0.86[EUR][1000 genomes]
rs8006042	0.93[ASN][1000 genomes]
rs8007696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007866	0.89[ASN][1000 genomes]
rs8010261	0.91[EUR][1000 genomes]
rs8015641	0.87[ASN][1000 genomes]
rs8015819	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8016024	0.93[ASN][1000 genomes]
rs8019109	0.84[ASN][1000 genomes]
rs8020850	0.88[ASN][1000 genomes]
rs960797	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6573768	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67762600-67825200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:67764400-67825200	Weak transcription	Stomach Mucosa	stomach
3	chr14:67767200-67825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:67768600-67825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:67800000-67825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:67811800-67825200	Weak transcription	Gastric	stomach
7	chr14:67815000-67825600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:67815200-67825200	Weak transcription	Lung	lung
9	chr14:67816400-67825000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:67816400-67825200	Weak transcription	Thymus	Thymus
11	chr14:67816800-67825200	Weak transcription	Ovary	ovary
12	chr14:67816800-67825600	Weak transcription	Aorta	Aorta
13	chr14:67817400-67825000	Weak transcription	Brain Angular Gyrus	brain
14	chr14:67817400-67825400	Weak transcription	Fetal Kidney	kidney
15	chr14:67817600-67825200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:67818800-67825000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:67819000-67825200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:67819400-67825200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr14:67820000-67825000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:67820000-67825200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr14:67820200-67825000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:67820200-67825200	Weak transcription	Primary B cells from cord blood	blood
23	chr14:67820200-67825200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr14:67820200-67825200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:67820200-67825200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:67820200-67825200	Weak transcription	Esophagus	oesophagus
27	chr14:67820400-67825000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:67820600-67825200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:67820600-67825600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:67820800-67825200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:67822800-67825200	Enhancers	Left Ventricle	heart
32	chr14:67823000-67825200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr14:67823200-67825000	Enhancers	Brain Germinal Matrix	brain
34	chr14:67823200-67825600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:67823200-67825600	Enhancers	Fetal Heart	heart
36	chr14:67823400-67825000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr14:67823400-67825200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr14:67823400-67825200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr14:67823400-67825200	Enhancers	Fetal Intestine Small	intestine
40	chr14:67823400-67825200	Enhancers	Psoas Muscle	Psoas
41	chr14:67823400-67825400	Enhancers	Liver	Liver
42	chr14:67823400-67825600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr14:67823400-67825600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:67823400-67825800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:67823400-67828400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:67823600-67825000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:67823600-67825400	Enhancers	Primary T cells from cord blood	blood
48	chr14:67823600-67825600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:67823800-67825000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr14:67823800-67825000	Enhancers	Dnd41	blood

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