Variant report

Variant	rs57354259
Chromosome Location	chr8:42866009-42866010
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs16891648	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891652	1.00[AMR][1000 genomes]
rs16891654	1.00[AMR][1000 genomes]
rs16891682	1.00[AMR][1000 genomes]
rs16891686	1.00[AMR][1000 genomes]
rs16891699	1.00[AMR][1000 genomes]
rs16891701	1.00[AMR][1000 genomes]
rs16891704	1.00[AMR][1000 genomes]
rs55636430	1.00[AMR][1000 genomes]
rs55745135	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55870161	1.00[AMR][1000 genomes]
rs55908519	1.00[AMR][1000 genomes]
rs55959405	1.00[AMR][1000 genomes]
rs56313744	1.00[AMR][1000 genomes]
rs56384848	1.00[AMR][1000 genomes]
rs56789342	1.00[AMR][1000 genomes]
rs57012672	1.00[AMR][1000 genomes]
rs57180588	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57279972	1.00[AMR][1000 genomes]
rs57713224	1.00[AMR][1000 genomes]
rs57746820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57798571	1.00[AMR][1000 genomes]
rs58729340	1.00[AMR][1000 genomes]
rs59139251	1.00[AMR][1000 genomes]
rs59320956	1.00[AMR][1000 genomes]
rs59364656	1.00[AMR][1000 genomes]
rs60259766	1.00[AMR][1000 genomes]
rs60491458	1.00[AMR][1000 genomes]
rs60748981	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60960611	1.00[AMR][1000 genomes]
rs61356971	1.00[AMR][1000 genomes]
rs61468554	1.00[AMR][1000 genomes]
rs73675437	1.00[AMR][1000 genomes]
rs73675439	1.00[AMR][1000 genomes]
rs73675443	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73675449	1.00[AMR][1000 genomes]
rs73675450	1.00[AMR][1000 genomes]
rs73675452	1.00[AMR][1000 genomes]
rs73675454	1.00[AMR][1000 genomes]
rs73675457	1.00[AMR][1000 genomes]
rs73675458	1.00[AMR][1000 genomes]
rs73675460	1.00[AMR][1000 genomes]
rs73675461	1.00[AMR][1000 genomes]
rs73675463	1.00[AMR][1000 genomes]
rs73675464	1.00[AMR][1000 genomes]
rs73675466	1.00[AMR][1000 genomes]
rs73675467	1.00[AMR][1000 genomes]
rs73675468	1.00[AMR][1000 genomes]
rs73675469	1.00[AMR][1000 genomes]
rs73675470	1.00[AMR][1000 genomes]
rs73675473	1.00[AMR][1000 genomes]
rs73675475	1.00[AMR][1000 genomes]
rs73675476	1.00[AMR][1000 genomes]
rs73675478	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 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	chr8:42831800-42872200	Weak transcription	Gastric	stomach
5	chr8:42838200-42872200	Weak transcription	K562	blood
6	chr8:42839000-42866400	Weak transcription	Pancreas	Pancrea
7	chr8:42840200-42866600	Weak transcription	HepG2	liver
8	chr8:42844400-42866600	Weak transcription	Esophagus	oesophagus
9	chr8:42844600-42873200	Weak transcription	HMEC	breast
10	chr8:42847000-42889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:42847200-42867200	Weak transcription	Colonic Mucosa	Colon
12	chr8:42847200-42886800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:42847400-42866200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:42847400-42875400	Weak transcription	Psoas Muscle	Psoas
15	chr8:42848400-42877200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr8:42848400-42879600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:42848600-42870400	Weak transcription	Thymus	Thymus
18	chr8:42851000-42868400	Weak transcription	Fetal Brain Male	brain
19	chr8:42856200-42866400	Weak transcription	Stomach Mucosa	stomach
20	chr8:42856800-42877200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:42859000-42891600	Weak transcription	Small Intestine	intestine
22	chr8:42859200-42866200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:42860000-42866200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:42860400-42883200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:42861400-42873800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:42861400-42883200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:42861600-42874800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:42861600-42881800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:42861800-42873200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:42862000-42873800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:42862000-42874400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:42862200-42877800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr8:42862400-42876600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:42862400-42877800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:42862400-42878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:42862400-42881000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:42862400-42883000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:42862400-42883200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:42862400-42884600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr8:42863000-42869200	Strong transcription	Brain Germinal Matrix	brain
41	chr8:42863000-42870600	Strong transcription	Osteobl	bone
42	chr8:42863000-42873800	Strong transcription	Fetal Intestine Large	intestine
43	chr8:42863000-42878000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:42863000-42881600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:42863000-42883200	Strong transcription	Adipose Nuclei	Adipose
46	chr8:42863000-42883200	Strong transcription	Placenta	Placenta
47	chr8:42863400-42879400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:42863600-42869200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:42863600-42873800	Strong transcription	Fetal Muscle Leg	muscle
50	chr8:42863800-42870200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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