Variant report

Variant	rs73627278
Chromosome Location	chr8:42851883-42851884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10453137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10675533	0.87[EUR][1000 genomes]
rs11984488	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11984550	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11984732	0.81[EUR][1000 genomes]
rs11986255	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11987452	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988102	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988197	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988823	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11990369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11991133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11991458	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11992397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992567	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11992660	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11992682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992987	0.86[AFR][1000 genomes]
rs11993667	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994115	0.86[AFR][1000 genomes]
rs11994318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995172	0.86[AFR][1000 genomes]
rs11995473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11995810	0.85[AFR][1000 genomes]
rs11996604	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11997992	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17622134	0.81[EUR][1000 genomes]
rs2194902	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28799623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28840077	0.86[AFR][1000 genomes]
rs34489103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35506493	0.84[AFR][1000 genomes]
rs57363090	1.00[EUR][1000 genomes]
rs57797146	0.95[EUR][1000 genomes]
rs57986156	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58081556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58641534	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59164172	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59177170	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59213790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59531993	0.81[EUR][1000 genomes]
rs60133450	0.86[AFR][1000 genomes]
rs60443202	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60555023	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60782941	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61224035	0.88[AFR][1000 genomes]
rs61733908	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6651368	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6651369	0.90[EUR][1000 genomes]
rs7004940	1.00[EUR][1000 genomes]
rs7008140	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7010367	0.90[EUR][1000 genomes]
rs73627229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627250	0.90[AFR][1000 genomes]
rs73627252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627261	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627288	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627294	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629108	0.80[AFR][1000 genomes]
rs73629110	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629152	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629156	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629161	0.90[EUR][1000 genomes]
rs73629163	0.90[EUR][1000 genomes]
rs73629177	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629179	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629182	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629190	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629192	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629194	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73634652	0.84[AFR][1000 genomes]
rs73634666	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634670	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634673	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634677	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634682	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634696	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635316	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73635325	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635331	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635345	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635357	0.88[AFR][1000 genomes]
rs73635362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635365	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7820326	0.81[EUR][1000 genomes]
rs7838845	0.85[AMR][1000 genomes];0.90[EUR][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	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
2	chr8:42823400-42875600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:42824800-42874800	Weak transcription	Hela-S3	cervix
4	chr8:42830800-42865400	Weak transcription	NHLF	lung
5	chr8:42830800-42865800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:42831600-42865800	Weak transcription	Right Ventricle	heart
7	chr8:42831800-42872200	Weak transcription	Gastric	stomach
8	chr8:42838200-42865800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:42838200-42872200	Weak transcription	K562	blood
10	chr8:42839000-42853000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:42839000-42858200	Weak transcription	Small Intestine	intestine
12	chr8:42839000-42866400	Weak transcription	Pancreas	Pancrea
13	chr8:42840200-42866000	Weak transcription	Spleen	Spleen
14	chr8:42840200-42866600	Weak transcription	HepG2	liver
15	chr8:42841800-42860200	Strong transcription	Liver	Liver
16	chr8:42843400-42853000	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:42844200-42857400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:42844200-42865400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:42844400-42866600	Weak transcription	Esophagus	oesophagus
20	chr8:42844600-42873200	Weak transcription	HMEC	breast
21	chr8:42844800-42865000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:42846200-42853200	Weak transcription	NH-A	brain
23	chr8:42846200-42865600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:42846400-42864600	Weak transcription	NHDF-Ad	bronchial
25	chr8:42846800-42858800	Weak transcription	Brain Angular Gyrus	brain
26	chr8:42847000-42889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:42847200-42864200	Weak transcription	HSMMtube	muscle
28	chr8:42847200-42864400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:42847200-42865800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:42847200-42867200	Weak transcription	Colonic Mucosa	Colon
31	chr8:42847200-42886800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:42847400-42857400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:42847400-42866200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:42847400-42875400	Weak transcription	Psoas Muscle	Psoas
35	chr8:42847600-42857200	Weak transcription	Left Ventricle	heart
36	chr8:42847800-42857400	Weak transcription	Ovary	ovary
37	chr8:42847800-42859400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:42848000-42853600	Strong transcription	Fetal Lung	lung
39	chr8:42848000-42855000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr8:42848000-42857400	Weak transcription	Fetal Intestine Large	intestine
41	chr8:42848000-42860600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:42848200-42853400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:42848200-42858400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr8:42848200-42859000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:42848200-42865000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:42848200-42865200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:42848400-42852400	Weak transcription	A549	lung
48	chr8:42848400-42852400	Weak transcription	Osteobl	bone
49	chr8:42848400-42853000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:42848400-42858200	Weak transcription	Brain Substantia Nigra	brain

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