Variant report

Variant	rs10071174
Chromosome Location	chr5:80556747-80556748
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10036376	0.84[EUR][1000 genomes]
rs10055018	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10073527	0.88[EUR][1000 genomes]
rs10074794	0.82[EUR][1000 genomes]
rs10514215	0.84[EUR][1000 genomes]
rs10514216	0.94[EUR][1000 genomes]
rs11960275	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12516414	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12652649	0.85[ASN][1000 genomes]
rs13155580	0.94[EUR][1000 genomes]
rs13170098	0.84[EUR][1000 genomes]
rs13172928	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16876403	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2270824	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2277037	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28819671	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4703828	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4703832	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4704709	0.88[EUR][1000 genomes]
rs4704717	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs545	0.95[EUR][1000 genomes]
rs57086010	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59563495	0.83[ASN][1000 genomes]
rs60434474	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6872183	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7448717	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598750	chr5:80503528-80599578	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80528000-80564400	Weak transcription	Hela-S3	cervix
2	chr5:80531200-80564200	Weak transcription	HepG2	liver
3	chr5:80532200-80556800	Weak transcription	Dnd41	blood
4	chr5:80541800-80564400	Weak transcription	A549	lung
5	chr5:80542200-80557000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:80543800-80565600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:80544000-80557000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr5:80544000-80564200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:80544000-80564400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:80544200-80561400	Weak transcription	NHLF	lung
11	chr5:80544200-80564600	Weak transcription	HSMMtube	muscle
12	chr5:80545400-80565200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:80545800-80564800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:80546600-80556800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:80546600-80564600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:80548200-80557600	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:80548200-80559400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:80548800-80559400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:80548800-80568000	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:80549200-80561400	Weak transcription	Liver	Liver
21	chr5:80549200-80562000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:80549400-80565800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:80549400-80565800	Weak transcription	Lung	lung
24	chr5:80550200-80560400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:80550400-80563800	Weak transcription	NHEK	skin
26	chr5:80550400-80564200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:80550800-80564000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:80551000-80557200	Strong transcription	Left Ventricle	heart
29	chr5:80551200-80562200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:80551200-80562600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:80551200-80564200	Weak transcription	Fetal Intestine Large	intestine
32	chr5:80551200-80564800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:80551200-80565000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:80551400-80564400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:80551600-80558000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:80552000-80559800	Weak transcription	Primary B cells from cord blood	blood
37	chr5:80552800-80567200	Weak transcription	Brain Anterior Caudate	brain
38	chr5:80553000-80564800	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:80554400-80563600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:80554600-80563800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:80554600-80576400	Weak transcription	Pancreas	Pancrea
42	chr5:80555200-80564600	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:80555200-80564800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:80555200-80568600	Weak transcription	Fetal Stomach	stomach
45	chr5:80555400-80557000	Weak transcription	Brain Angular Gyrus	brain
46	chr5:80555600-80556800	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:80555600-80557600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr5:80555600-80559400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:80555600-80559600	Weak transcription	Psoas Muscle	Psoas
50	chr5:80555600-80562600	Weak transcription	Right Ventricle	heart

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