Variant report

Variant	rs7380748
Chromosome Location	chr5:74993486-74993487
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10515213	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs168807	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17563589	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17563610	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17563700	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17563877	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17563974	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17563995	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17649248	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17649266	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17649332	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17649350	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17649362	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291630	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2307112	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2307115	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs253387	0.81[EUR][1000 genomes]
rs34356	0.81[EUR][1000 genomes]
rs3797581	0.98[EUR][1000 genomes]
rs4703676	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4704233	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58255973	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58968428	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72633981	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72633982	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72633983	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72633984	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72633985	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72633986	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72633987	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72633988	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72633989	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72633990	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs888788	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv830353	chr5:74961520-75152609	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7380748	POC5	cis	Thyroid	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74965000-74998000	Weak transcription	Fetal Brain Female	brain
2	chr5:74965200-75011800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:74965400-74997800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:74965400-75012400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:74965400-75012400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:74965400-75012400	Weak transcription	Right Ventricle	heart
7	chr5:74965600-74998200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:74965600-74998200	Weak transcription	Fetal Heart	heart
9	chr5:74965600-75010400	Weak transcription	Gastric	stomach
10	chr5:74965600-75011400	Weak transcription	Small Intestine	intestine
11	chr5:74966000-74998400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:74968800-74998400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:74971000-74997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:74971200-75012400	Weak transcription	Aorta	Aorta
15	chr5:74971200-75012400	Weak transcription	Brain Substantia Nigra	brain
16	chr5:74974400-74997800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:74976600-74998200	Weak transcription	Colonic Mucosa	Colon
18	chr5:74977200-74997600	Weak transcription	Fetal Kidney	kidney
19	chr5:74977200-74997800	Weak transcription	Brain Angular Gyrus	brain
20	chr5:74977400-74997600	Weak transcription	NHEK	skin
21	chr5:74977400-74997800	Weak transcription	NHDF-Ad	bronchial
22	chr5:74978200-74997600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:74978800-74997600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:74979000-74997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:74979000-75003800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:74979800-74998400	Weak transcription	Ovary	ovary
27	chr5:74980000-75012200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr5:74981400-74997600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:74981400-74997800	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:74981400-74997800	Weak transcription	Spleen	Spleen
31	chr5:74981400-74999200	Weak transcription	Fetal Stomach	stomach
32	chr5:74981400-74999600	Weak transcription	Fetal Intestine Small	intestine
33	chr5:74981400-75002600	Weak transcription	Pancreas	Pancrea
34	chr5:74984200-75012400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:74985000-74997600	Weak transcription	HepG2	liver
36	chr5:74985000-74997800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr5:74985000-74997800	Weak transcription	Brain Anterior Caudate	brain
38	chr5:74985000-74997800	Weak transcription	HMEC	breast
39	chr5:74985400-74998400	Weak transcription	HSMM	muscle
40	chr5:74985600-74998000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:74986400-74997600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:74986400-74998400	Weak transcription	Left Ventricle	heart
43	chr5:74986600-74997800	Weak transcription	A549	lung
44	chr5:74986800-74997600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:74986800-74997600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:74986800-74997800	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:74986800-74997800	Weak transcription	Lung	lung
48	chr5:74986800-74998200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:74986800-74998400	Weak transcription	NH-A	brain
50	chr5:74986800-75000000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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