Variant report

Variant	rs57012672
Chromosome Location	chr8:42882145-42882146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42877169..42878990-chr8:42881083..42882682,2	K562	blood:
2	chr8:42880468..42883238-chr8:42908903..42910808,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs16891648	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	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]
rs57180588	1.00[AMR][1000 genomes]
rs57279972	1.00[AMR][1000 genomes]
rs57354259	1.00[AMR][1000 genomes]
rs57713224	1.00[AMR][1000 genomes]
rs57746820	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	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	1.00[AMR][1000 genomes]
rs73675448	1.00[AMR][1000 genomes]
rs73675449	1.00[AMR][1000 genomes]
rs73675450	0.84[AFR][1000 genomes];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]
rs73675493	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42847000-42889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:42847200-42886800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr8:42859000-42891600	Weak transcription	Small Intestine	intestine
4	chr8:42860400-42883200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:42861400-42883200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:42862400-42883000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:42862400-42883200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:42862400-42884600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:42863000-42883200	Strong transcription	Adipose Nuclei	Adipose
10	chr8:42863000-42883200	Strong transcription	Placenta	Placenta
11	chr8:42864000-42883200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:42864000-42889400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:42866000-42889400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:42866200-42889600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:42867200-42889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:42867400-42884200	Weak transcription	Colonic Mucosa	Colon
17	chr8:42867600-42884200	Weak transcription	A549	lung
18	chr8:42868000-42889400	Weak transcription	NHEK	skin
19	chr8:42868000-42891600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:42869000-42882600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:42869200-42883400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:42870200-42882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:42870200-42890800	Weak transcription	Fetal Brain Male	brain
24	chr8:42873200-42889600	Weak transcription	Aorta	Aorta
25	chr8:42873800-42887600	Weak transcription	HepG2	liver
26	chr8:42873800-42889400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:42873800-42889400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:42873800-42889400	Weak transcription	Ovary	ovary
29	chr8:42873800-42889400	Weak transcription	Thymus	Thymus
30	chr8:42873800-42889400	Weak transcription	Spleen	Spleen
31	chr8:42873800-42891000	Weak transcription	NHLF	lung
32	chr8:42873800-42891400	Weak transcription	Esophagus	oesophagus
33	chr8:42873800-42891800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:42873800-42892200	Weak transcription	Gastric	stomach
35	chr8:42874000-42884200	Weak transcription	Fetal Thymus	thymus
36	chr8:42874000-42886800	Weak transcription	GM12878-XiMat	blood
37	chr8:42874200-42891400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:42874600-42882800	Weak transcription	Fetal Brain Female	brain
39	chr8:42874600-42889600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:42874800-42884600	Weak transcription	K562	blood
41	chr8:42875000-42889400	Weak transcription	Brain Angular Gyrus	brain
42	chr8:42875000-42889600	Weak transcription	HMEC	breast
43	chr8:42875000-42891200	Weak transcription	Fetal Kidney	kidney
44	chr8:42875200-42886600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:42875400-42883400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:42875600-42883600	Weak transcription	Hela-S3	cervix
47	chr8:42875600-42891800	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:42875800-42889400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:42875800-42889600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:42876000-42889600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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