Variant report

Variant	rs8003327
Chromosome Location	chr14:67855598-67855599
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67854460..67856637-chr14:67859144..67860665,2	K562	blood:
2	chr14:67850111..67855173-chr14:67855331..67859014,5	K562	blood:
3	chr14:67824616..67827332-chr14:67855402..67857114,2	MCF-7	breast:
4	chr14:67854976..67857468-chr14:67858474..67861357,2	MCF-7	breast:
5	chr14:67835138..67837687-chr14:67853889..67855773,2	K562	blood:
6	chr14:67854344..67856660-chr14:67881111..67883754,2	K562	blood:
7	chr14:67852161..67854104-chr14:67854613..67856832,2	MCF-7	breast:
8	chr14:67846836..67848449-chr14:67854431..67855957,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100554	Chromatin interaction
ENSG00000100558	Chromatin interaction
ENSG00000134001	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10129185	0.90[ASN][1000 genomes]
rs10132093	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10139953	0.95[ASN][1000 genomes]
rs10141180	0.92[ASN][1000 genomes]
rs10144122	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144774	0.90[ASN][1000 genomes]
rs10146389	0.81[ASN][1000 genomes]
rs10147362	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10149615	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1044745	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12588292	0.88[ASN][1000 genomes]
rs12588458	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12590065	0.90[ASN][1000 genomes]
rs1473732	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17104202	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1885590	0.82[ASN][1000 genomes]
rs2031564	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2094162	0.88[ASN][1000 genomes]
rs2148160	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2281676	0.83[EUR][1000 genomes]
rs2296561	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2296562	0.95[ASN][1000 genomes]
rs2296563	0.93[ASN][1000 genomes]
rs2319777	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28521373	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3784085	0.94[ASN][1000 genomes]
rs3844530	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4636843	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57154550	0.92[ASN][1000 genomes]
rs58257525	0.89[ASN][1000 genomes]
rs60505324	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61612119	0.88[EUR][1000 genomes]
rs6573758	0.88[EUR][1000 genomes]
rs6573760	0.88[EUR][1000 genomes]
rs6573765	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573768	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573769	0.91[ASN][1000 genomes]
rs6573770	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs66851210	0.91[ASN][1000 genomes]
rs67968914	0.91[ASN][1000 genomes]
rs68002629	0.87[ASN][1000 genomes]
rs7153725	0.93[ASN][1000 genomes]
rs7154607	0.92[ASN][1000 genomes]
rs7156119	0.84[EUR][1000 genomes]
rs7157704	0.93[ASN][1000 genomes]
rs73279056	0.88[EUR][1000 genomes]
rs73280987	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73282707	0.85[ASN][1000 genomes]
rs73284892	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8004488	0.88[EUR][1000 genomes]
rs8005756	0.92[ASN][1000 genomes]
rs8005876	0.92[ASN][1000 genomes]
rs8006042	0.91[ASN][1000 genomes]
rs8007696	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8007866	0.88[ASN][1000 genomes]
rs8015641	0.85[ASN][1000 genomes]
rs8015819	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8016024	0.91[ASN][1000 genomes]
rs8019109	0.84[ASN][1000 genomes]
rs8020850	0.86[ASN][1000 genomes]
rs9323497	0.82[ASN][1000 genomes]
rs960797	0.87[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	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
4	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
5	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
6	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
7	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
rs8003327	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67831200-67864600	Strong transcription	Duodenum Mucosa	Duodenum
2	chr14:67831400-67856200	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr14:67835000-67857000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:67835200-67863400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:67837600-67860800	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:67839600-67862400	Strong transcription	Fetal Intestine Large	intestine
7	chr14:67840800-67857200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:67844200-67859200	Weak transcription	Esophagus	oesophagus
9	chr14:67844800-67856000	Weak transcription	Fetal Brain Male	brain
10	chr14:67845000-67864800	Strong transcription	Hela-S3	cervix
11	chr14:67845400-67855800	Weak transcription	Aorta	Aorta
12	chr14:67845600-67859400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:67846000-67876200	Weak transcription	Stomach Mucosa	stomach
14	chr14:67849200-67860600	Strong transcription	Fetal Stomach	stomach
15	chr14:67849400-67857800	Weak transcription	Brain Angular Gyrus	brain
16	chr14:67849600-67857200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:67849600-67864400	Weak transcription	Gastric	stomach
18	chr14:67850000-67857200	Weak transcription	Right Ventricle	heart
19	chr14:67850000-67862200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:67850200-67856000	Weak transcription	Ovary	ovary
21	chr14:67850200-67857200	Weak transcription	Spleen	Spleen
22	chr14:67850200-67858400	Weak transcription	Colonic Mucosa	Colon
23	chr14:67850200-67878400	Weak transcription	Lung	lung
24	chr14:67850400-67856800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:67850600-67859600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:67850600-67862400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:67850800-67855800	Weak transcription	HepG2	liver
28	chr14:67851000-67863200	Weak transcription	Fetal Lung	lung
29	chr14:67852000-67857000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:67852000-67860200	Weak transcription	NHLF	lung
31	chr14:67852200-67855800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:67852200-67856600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:67852200-67857800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:67852200-67858400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:67852200-67862400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:67852200-67863200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:67852400-67855800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:67852400-67857400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:67852400-67862400	Weak transcription	HSMMtube	muscle
40	chr14:67852600-67857200	Weak transcription	Psoas Muscle	Psoas
41	chr14:67852600-67858200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:67852600-67862000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:67852800-67855600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:67852800-67856000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:67852800-67856400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr14:67852800-67857600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:67852800-67859400	Weak transcription	Pancreas	Pancrea
48	chr14:67852800-67863200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:67852800-67865800	Strong transcription	HMEC	breast
50	chr14:67853000-67856400	Weak transcription	Adipose Nuclei	Adipose

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