Variant report

Variant	rs60978823
Chromosome Location	chr8:100597389-100597390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57994419	1.00[AFR][1000 genomes]
rs60608767	1.00[AFR][1000 genomes]
rs61203173	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv933879	chr8:100417371-100622310	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
13	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1033795	chr8:100557344-100666640	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100550400-100597600	Weak transcription	Dnd41	blood
2	chr8:100560400-100619600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:100565400-100597600	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:100581800-100612400	Weak transcription	HSMMtube	muscle
5	chr8:100582000-100600400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:100582000-100610400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:100584600-100598000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:100586200-100608800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:100586600-100617400	Weak transcription	Fetal Kidney	kidney
10	chr8:100587400-100598200	Weak transcription	Pancreas	Pancrea
11	chr8:100588000-100600000	Weak transcription	HSMM	muscle
12	chr8:100588800-100598600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:100590000-100600200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:100590000-100612800	Weak transcription	Brain Substantia Nigra	brain
15	chr8:100590200-100597800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:100590400-100599800	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:100590800-100599400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:100590800-100610600	Weak transcription	Gastric	stomach
19	chr8:100591200-100598200	Weak transcription	Lung	lung
20	chr8:100591400-100609600	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:100593200-100598200	Weak transcription	Fetal Stomach	stomach
22	chr8:100593600-100597600	Strong transcription	Primary T cells from cord blood	blood
23	chr8:100594400-100598600	Weak transcription	Psoas Muscle	Psoas
24	chr8:100594400-100598800	Strong transcription	Primary B cells from cord blood	blood
25	chr8:100594600-100598000	Weak transcription	Fetal Brain Male	brain
26	chr8:100594600-100600200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:100594800-100609000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:100595200-100597600	Weak transcription	Thymus	Thymus
29	chr8:100595200-100598600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:100595200-100599400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:100595800-100598400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
32	chr8:100596000-100597600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:100596000-100598400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr8:100596000-100598600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:100596000-100598800	Strong transcription	Adipose Nuclei	Adipose
36	chr8:100596000-100598800	Strong transcription	Liver	Liver
37	chr8:100596000-100599000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr8:100596000-100599400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:100596200-100598000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:100596200-100598200	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr8:100596200-100598200	Weak transcription	Brain Angular Gyrus	brain
42	chr8:100596200-100599000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:100596200-100599000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
44	chr8:100596200-100599400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
45	chr8:100596200-100599600	Weak transcription	Placenta	Placenta
46	chr8:100596400-100597600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr8:100596400-100598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:100596400-100598200	Weak transcription	Left Ventricle	heart
49	chr8:100596400-100598600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:100596400-100599400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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