Variant report

Variant	rs6573753
Chromosome Location	chr14:67593836-67593837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10132088	0.82[AMR][1000 genomes]
rs10139792	0.82[AMR][1000 genomes]
rs10483793	0.84[AMR][1000 genomes]
rs17248357	0.82[AMR][1000 genomes]
rs17248421	0.82[AMR][1000 genomes]
rs2295903	0.82[AMR][1000 genomes]
rs28368552	0.82[AMR][1000 genomes]
rs28662990	0.85[AMR][1000 genomes]
rs59774616	0.84[AMR][1000 genomes]
rs6573751	0.83[AMR][1000 genomes]
rs6573755	0.82[AMR][1000 genomes]
rs7145005	0.84[AMR][1000 genomes]
rs7146638	0.82[AMR][1000 genomes]
rs7147534	0.82[AMR][1000 genomes]
rs7150089	0.82[AMR][1000 genomes]
rs7150739	0.84[AMR][1000 genomes]
rs7150934	0.81[AMR][1000 genomes]
rs7152231	0.82[AMR][1000 genomes]
rs7161698	0.81[AMR][1000 genomes]
rs768770	0.85[AMR][1000 genomes]
rs8006281	0.82[AMR][1000 genomes]
rs8013724	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6573753	EIF2S1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67554600-67604200	Weak transcription	HMEC	breast
2	chr14:67568000-67618400	Weak transcription	Gastric	stomach
3	chr14:67573000-67615200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:67573200-67619800	Weak transcription	HepG2	liver
5	chr14:67573400-67615000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:67574600-67600600	Weak transcription	GM12878-XiMat	blood
7	chr14:67580000-67622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:67584200-67637400	Weak transcription	Pancreas	Pancrea
9	chr14:67586600-67607800	Weak transcription	Fetal Intestine Small	intestine
10	chr14:67588000-67596200	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:67588000-67639400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr14:67588400-67599400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:67588400-67599400	Weak transcription	NHEK	skin
14	chr14:67588400-67639200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:67588600-67638400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:67590000-67597000	Weak transcription	Fetal Kidney	kidney
17	chr14:67590200-67594200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:67590200-67599600	Weak transcription	HSMM	muscle
19	chr14:67590200-67600400	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:67590200-67600600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr14:67590200-67610000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:67590200-67610800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:67590200-67613800	Weak transcription	Psoas Muscle	Psoas
24	chr14:67590200-67617800	Weak transcription	Brain Angular Gyrus	brain
25	chr14:67590200-67618000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:67590200-67637400	Weak transcription	Aorta	Aorta
27	chr14:67590200-67638000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:67590400-67594800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:67590400-67596800	Weak transcription	Ovary	ovary
30	chr14:67590400-67597000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:67590400-67597600	Weak transcription	Fetal Intestine Large	intestine
32	chr14:67590400-67598600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:67590400-67610000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:67590400-67614200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:67590400-67618000	Weak transcription	Brain Substantia Nigra	brain
36	chr14:67590800-67601200	Weak transcription	Fetal Brain Male	brain
37	chr14:67590800-67616400	Weak transcription	Dnd41	blood
38	chr14:67590800-67621400	Weak transcription	Right Ventricle	heart
39	chr14:67590800-67637600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr14:67591200-67597400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:67591200-67601800	Weak transcription	Brain Anterior Caudate	brain
42	chr14:67591200-67618400	Weak transcription	Fetal Stomach	stomach
43	chr14:67591400-67612200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:67591400-67614200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:67591400-67640000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:67591800-67597200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:67592200-67618400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:67592400-67596800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:67592400-67609200	Weak transcription	Left Ventricle	heart
50	chr14:67592400-67612800	Weak transcription	Adipose Nuclei	Adipose

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