Variant report

Variant	rs57213366
Chromosome Location	chr8:131250067-131250068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11776262	0.81[AFR][1000 genomes]
rs11784988	0.85[AFR][1000 genomes]
rs11785806	0.85[AFR][1000 genomes]
rs57315235	0.85[AFR][1000 genomes]
rs58012382	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58262391	1.00[AFR][1000 genomes]
rs58498075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58664881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59411017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60001112	1.00[AMR][1000 genomes]
rs60043570	1.00[AMR][1000 genomes]
rs61123306	1.00[AMR][1000 genomes]
rs61329743	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61358542	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61578845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72724490	0.85[AFR][1000 genomes]
rs73409347	1.00[AMR][1000 genomes]
rs73423598	1.00[AMR][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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
2	chr8:131210000-131250400	Weak transcription	Gastric	stomach
3	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:131219000-131255000	Weak transcription	Thymus	Thymus
7	chr8:131220000-131254800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:131220000-131255000	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:131225200-131250200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:131225200-131253400	Weak transcription	Right Ventricle	heart
11	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
12	chr8:131226200-131251600	Weak transcription	K562	blood
13	chr8:131227200-131251200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:131229400-131251600	Weak transcription	Aorta	Aorta
15	chr8:131232200-131257000	Weak transcription	Lung	lung
16	chr8:131232400-131261200	Weak transcription	Fetal Stomach	stomach
17	chr8:131234600-131255600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:131234800-131255600	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
20	chr8:131237600-131258000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:131238600-131257000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:131239600-131250400	Weak transcription	Ovary	ovary
23	chr8:131239600-131251600	Weak transcription	Fetal Heart	heart
24	chr8:131239800-131255200	Weak transcription	Small Intestine	intestine
25	chr8:131240600-131255000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:131240800-131252000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:131240800-131255800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr8:131241000-131250800	Genic enhancers	HSMM	muscle
29	chr8:131241800-131253200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:131242400-131251400	Weak transcription	Fetal Intestine Small	intestine
31	chr8:131242400-131255000	Weak transcription	GM12878-XiMat	blood
32	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:131244000-131250400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:131244000-131262400	Weak transcription	Fetal Brain Female	brain
35	chr8:131244400-131259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:131245000-131251600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:131246200-131257200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:131246400-131251200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:131246400-131257000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:131247000-131257000	Weak transcription	Liver	Liver
41	chr8:131247000-131258200	Weak transcription	Pancreas	Pancrea
42	chr8:131247200-131255000	Weak transcription	Spleen	Spleen
43	chr8:131247200-131255600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr8:131247400-131252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:131247400-131253000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:131247600-131250200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr8:131247800-131250400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr8:131247800-131250400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:131248000-131250400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr8:131248000-131250800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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