Variant report

Variant	rs6573748
Chromosome Location	chr14:67521814-67521815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:180)

rs_ID	r²[population]
rs10047902	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10130604	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10131242	0.86[ASN][1000 genomes]
rs10131984	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10132565	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10133107	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10135100	0.88[ASN][1000 genomes]
rs10135117	0.81[ASN][1000 genomes]
rs10135701	0.81[ASN][1000 genomes]
rs10136026	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10136043	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10136344	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10136622	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10137618	0.86[ASN][1000 genomes]
rs10138631	0.86[ASN][1000 genomes]
rs10138850	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10138865	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10138952	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10140569	0.89[ASN][1000 genomes]
rs10141815	0.92[ASN][1000 genomes]
rs10141947	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10142059	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10142878	0.81[ASN][1000 genomes]
rs10144915	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10145508	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10145511	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10146304	0.88[ASN][1000 genomes]
rs10147954	0.81[ASN][1000 genomes]
rs10148117	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10149600	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10150098	0.84[ASN][1000 genomes]
rs10150145	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10150424	0.87[ASN][1000 genomes]
rs10151107	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10151405	0.81[ASN][1000 genomes]
rs10151487	0.81[ASN][1000 genomes]
rs10220477	0.87[ASN][1000 genomes]
rs10483793	0.83[ASN][1000 genomes]
rs1080053	0.83[ASN][1000 genomes]
rs10873197	0.86[ASN][1000 genomes]
rs10873198	0.81[ASN][1000 genomes]
rs11158649	0.86[ASN][1000 genomes]
rs11158651	0.86[ASN][1000 genomes]
rs11158652	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1138802	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12588821	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12590689	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13379476	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13379478	0.84[ASN][1000 genomes]
rs1546940	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17248252	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1884066	0.89[ASN][1000 genomes]
rs1918483	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1950281	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1950282	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1950284	0.85[ASN][1000 genomes]
rs1950689	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1955604	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1955606	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1955608	0.88[ASN][1000 genomes]
rs1955609	0.88[ASN][1000 genomes]
rs1955610	0.88[ASN][1000 genomes]
rs2013137	0.90[ASN][1000 genomes]
rs2038398	0.82[ASN][1000 genomes]
rs2039055	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2064489	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2144909	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2281676	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2319549	0.87[ASN][1000 genomes]
rs28398007	0.87[ASN][1000 genomes]
rs28444104	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28521373	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28539317	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28662990	0.83[ASN][1000 genomes]
rs28685619	0.86[ASN][1000 genomes]
rs28718312	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28817965	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28850894	0.81[ASN][1000 genomes]
rs3752993	0.96[ASN][1000 genomes]
rs3784074	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3784078	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3844530	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4636843	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58367317	0.81[ASN][1000 genomes]
rs59774616	0.92[ASN][1000 genomes]
rs60550390	0.86[ASN][1000 genomes]
rs61612119	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6573726	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6573727	0.80[ASN][1000 genomes]
rs6573728	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573732	0.83[ASN][1000 genomes]
rs6573733	0.83[ASN][1000 genomes]
rs6573734	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573735	0.81[ASN][1000 genomes]
rs6573736	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6573737	0.81[ASN][1000 genomes]
rs6573740	0.89[ASN][1000 genomes]
rs6573741	0.86[ASN][1000 genomes]
rs6573742	0.93[ASN][1000 genomes]
rs6573743	0.83[ASN][1000 genomes]
rs6573744	0.86[ASN][1000 genomes]
rs6573745	0.85[ASN][1000 genomes]
rs6573746	0.87[ASN][1000 genomes]
rs6573747	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6573749	0.96[ASN][1000 genomes]
rs6573750	0.92[ASN][1000 genomes]
rs6573751	0.85[ASN][1000 genomes]
rs6573752	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6573758	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6573760	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs68178754	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7141519	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7142068	0.91[ASN][1000 genomes]
rs7144434	0.86[ASN][1000 genomes]
rs7144580	0.86[ASN][1000 genomes]
rs7145005	0.88[ASN][1000 genomes]
rs7145295	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7145844	0.81[ASN][1000 genomes]
rs7145917	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7146098	0.81[ASN][1000 genomes]
rs7146635	0.84[ASN][1000 genomes]
rs7147207	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7147570	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7147943	0.80[ASN][1000 genomes]
rs7148044	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7148425	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7149905	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7150739	0.91[ASN][1000 genomes]
rs7151086	0.87[ASN][1000 genomes]
rs7151898	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7152001	0.93[ASN][1000 genomes]
rs7152422	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7155042	0.87[ASN][1000 genomes]
rs7156081	0.82[ASN][1000 genomes]
rs7156119	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7156655	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7157126	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7157394	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7157418	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7158228	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7159871	0.88[ASN][1000 genomes]
rs7161664	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7161698	0.88[ASN][1000 genomes]
rs723432	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs728647	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73274960	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73279056	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7493580	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs768770	0.83[ASN][1000 genomes]
rs8003929	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8004488	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8005668	0.87[ASN][1000 genomes]
rs8005981	0.88[AMR][1000 genomes]
rs8008739	0.92[ASN][1000 genomes]
rs8009087	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8010261	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8012063	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8012660	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8012944	0.87[ASN][1000 genomes]
rs8013401	0.89[ASN][1000 genomes]
rs8013724	0.83[ASN][1000 genomes]
rs8013943	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8014841	0.81[ASN][1000 genomes]
rs8016186	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs8016391	0.87[ASN][1000 genomes]
rs8016725	0.80[ASN][1000 genomes]
rs8018750	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8018920	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8019510	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8020095	0.90[ASN][1000 genomes]
rs8021044	0.92[ASN][1000 genomes]
rs8021098	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8021795	0.86[ASN][1000 genomes]
rs8022657	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9323488	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9323489	0.83[ASN][1000 genomes]
rs9323490	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9323491	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323492	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9323493	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv525460	chr14:66851185-67626594	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1834170	chr14:67103140-67527235	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2829998	chr14:67103579-67626594	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1838724	chr14:67232573-67527235	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2763071	chr14:67284476-67597237	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv902058	chr14:67310195-67760538	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv902059	chr14:67352226-67760538	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	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
9	nsv902060	chr14:67417083-67760538	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	esv1841498	chr14:67434470-67634318	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv564960	chr14:67449344-67549803	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1038122	chr14:67487040-67528205	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6573748	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67511600-67524000	Weak transcription	Gastric	stomach
2	chr14:67511600-67527200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:67511600-67528800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:67511600-67529000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:67511600-67529400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:67511600-67530200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr14:67511600-67530400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:67511600-67536000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:67511600-67538000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr14:67511600-67544600	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:67511600-67544800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:67511600-67556200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:67512800-67525800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:67517800-67544400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:67518000-67523200	Weak transcription	Esophagus	oesophagus
16	chr14:67518000-67523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:67518000-67527800	Weak transcription	Left Ventricle	heart
18	chr14:67518000-67528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:67518000-67534200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:67518000-67534400	Weak transcription	Ovary	ovary
21	chr14:67518000-67535400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:67518000-67544800	Weak transcription	Fetal Stomach	stomach
23	chr14:67518200-67522400	Weak transcription	Liver	Liver
24	chr14:67519000-67525200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:67519800-67526200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:67520000-67525200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:67521800-67535800	Weak transcription	Fetal Kidney	kidney

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