Variant report

Variant	rs2298841
Chromosome Location	chr8:105478699-105478700
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	chr8:105468587..105471783-chr8:105476013..105478836,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2942570	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2959023	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2959026	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS 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	7 gene(s)	inside rSNPs	diseases
5	esv3328158	chr8:105477801-105480349	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105473400-105478800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:105477600-105478800	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr8:105477600-105479400	Active TSS	Liver	Liver
4	chr8:105478400-105478800	Bivalent Enhancer	Fetal Stomach	stomach
5	chr8:105478400-105479000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
6	chr8:105478400-105479400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr8:105478400-105479600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:105478400-105479600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr8:105478400-105479600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:105478400-105479600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:105478600-105478800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:105478600-105478800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:105478600-105478800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:105478600-105478800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:105478600-105478800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:105478600-105478800	Enhancers	Adipose Nuclei	Adipose
17	chr8:105478600-105478800	Bivalent Enhancer	Brain Anterior Caudate	brain
18	chr8:105478600-105478800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
19	chr8:105478600-105478800	Enhancers	Colonic Mucosa	Colon
20	chr8:105478600-105478800	Bivalent Enhancer	Fetal Thymus	thymus
21	chr8:105478600-105478800	Enhancers	Pancreas	Pancrea
22	chr8:105478600-105478800	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
23	chr8:105478600-105478800	Active TSS	Right Atrium	heart
24	chr8:105478600-105478800	Flanking Active TSS	Right Ventricle	heart
25	chr8:105478600-105478800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
26	chr8:105478600-105479000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:105478600-105479000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr8:105478600-105479000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
29	chr8:105478600-105479000	Bivalent Enhancer	Fetal Heart	heart
30	chr8:105478600-105479200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:105478600-105479200	Bivalent Enhancer	Esophagus	oesophagus
32	chr8:105478600-105479200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr8:105478600-105479400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr8:105478600-105479400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr8:105478600-105479400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr8:105478600-105479400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
37	chr8:105478600-105479400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:105478600-105479400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:105478600-105479400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:105478600-105479400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr8:105478600-105479400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr8:105478600-105479400	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr8:105478600-105479400	Active TSS	Ovary	ovary
44	chr8:105478600-105479400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
45	chr8:105478600-105479400	Bivalent/Poised TSS	Thymus	Thymus
46	chr8:105478600-105479400	Bivalent/Poised TSS	HepG2	liver
47	chr8:105478600-105479600	Active TSS	H9 Cell Line	embryonic stem cell
48	chr8:105478600-105479600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:105478600-105479600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
50	chr8:105478600-105479600	Bivalent Enhancer	Fetal Muscle Leg	muscle

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