Variant report

Variant	rs565330911
Chromosome Location	chr8:100253277-100253278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100247496..100249230-chr8:100251577..100253709,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	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
6	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv821659	chr8:100147641-100369829	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv1031524	chr8:100204139-100399935	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv933080	chr8:100204936-100417432	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv611810	chr8:100208966-100301621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv933386	chr8:100221585-100260998	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
16	nsv891223	chr8:100232372-100284110	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv891224	chr8:100232372-100336092	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv611811	chr8:100232372-100336447	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv611812	chr8:100232372-100464671	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
20	nsv531506	chr8:100242477-100344417	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv1027031	chr8:100250184-100442195	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv539696	chr8:100250184-100442195	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
23	nsv891225	chr8:100250253-100286280	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv972541	chr8:100252299-100255129	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100207000-100290400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr8:100214800-100293200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr8:100230400-100257800	Weak transcription	Aorta	Aorta
4	chr8:100231000-100255400	Weak transcription	Right Ventricle	heart
5	chr8:100232000-100267400	Weak transcription	Left Ventricle	heart
6	chr8:100241200-100255400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:100246400-100288200	Weak transcription	Primary T cells from cord blood	blood
8	chr8:100246600-100256200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:100246600-100261000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr8:100246600-100267000	Weak transcription	Primary B cells from cord blood	blood
11	chr8:100246800-100261000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:100246800-100262000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:100246800-100266800	Weak transcription	Fetal Intestine Small	intestine
14	chr8:100251600-100253600	Enhancers	GM12878-XiMat	blood
15	chr8:100251600-100260000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:100252000-100269200	Weak transcription	Ovary	ovary
17	chr8:100252200-100253400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:100252600-100253400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:100252600-100253400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:100252600-100253600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:100252800-100253400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:100252800-100253400	Enhancers	Thymus	Thymus
23	chr8:100253000-100253400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:100253000-100253400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:100253000-100253400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:100253000-100253400	Enhancers	Brain Angular Gyrus	brain
27	chr8:100253000-100253400	Enhancers	Brain Cingulate Gyrus	brain
28	chr8:100253000-100253400	Enhancers	Brain Germinal Matrix	brain
29	chr8:100253000-100253400	Enhancers	Brain Hippocampus Middle	brain
30	chr8:100253000-100253400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr8:100253000-100253400	Enhancers	Brain Substantia Nigra	brain
32	chr8:100253000-100253400	Enhancers	Colon Smooth Muscle	Colon
33	chr8:100253000-100253400	Enhancers	Fetal Brain Male	brain
34	chr8:100253000-100253400	Enhancers	Fetal Brain Female	brain
35	chr8:100253000-100253400	Enhancers	Fetal Muscle Leg	muscle
36	chr8:100253000-100253400	Enhancers	HMEC	breast
37	chr8:100253000-100253400	Enhancers	NHEK	skin
38	chr8:100253000-100253600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:100253000-100253600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:100253000-100253600	Enhancers	Dnd41	blood
41	chr8:100253000-100257000	Weak transcription	HUVEC	blood vessel
42	chr8:100253200-100253400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:100253200-100253400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:100253200-100253400	Enhancers	Fetal Stomach	stomach
45	chr8:100253200-100253400	Enhancers	NHDF-Ad	bronchial
46	chr8:100253200-100253400	Enhancers	NHLF	lung
47	chr8:100253200-100254200	Enhancers	Fetal Lung	lung
48	chr8:100253200-100263200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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