Variant report

Variant	rs2245311
Chromosome Location	chr8:105341989-105341990
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105334748..105339134-chr8:105341304..105344043,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1374526	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1447064	0.90[AMR][1000 genomes]
rs1447074	0.96[EUR][1000 genomes]
rs1447075	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1533243	0.80[AMR][1000 genomes]
rs1868012	0.90[AMR][1000 genomes]
rs1966072	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2001366	0.98[EUR][1000 genomes]
rs2044532	0.85[AMR][1000 genomes]
rs2166643	0.90[AMR][1000 genomes]
rs2166645	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2441833	0.96[EUR][1000 genomes]
rs2441836	0.85[AMR][1000 genomes]
rs2441837	0.80[AMR][1000 genomes]
rs2441864	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2441867	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2458420	0.96[EUR][1000 genomes]
rs2458421	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2511607	0.85[AMR][1000 genomes]
rs2511608	0.85[AMR][1000 genomes]
rs2511611	0.85[AMR][1000 genomes]
rs2511628	0.90[AMR][1000 genomes]
rs2511629	0.90[AMR][1000 genomes]
rs2514654	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2514655	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2514660	0.98[EUR][1000 genomes]
rs35635989	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1032775	chr8:105311364-105409972	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105333600-105342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:105335800-105342000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:105336400-105342400	Weak transcription	K562	blood
4	chr8:105336600-105342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:105336800-105342400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:105336800-105342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:105337800-105343200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:105338000-105342800	Enhancers	GM12878-XiMat	blood
9	chr8:105338200-105342000	Weak transcription	NHDF-Ad	bronchial
10	chr8:105338200-105342200	Weak transcription	Colonic Mucosa	Colon
11	chr8:105338200-105342200	Weak transcription	Left Ventricle	heart
12	chr8:105338200-105342200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr8:105338200-105342200	Weak transcription	Right Ventricle	heart
14	chr8:105338200-105342400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:105338200-105342400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:105338200-105342400	Weak transcription	NHLF	lung
17	chr8:105338400-105342200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:105338400-105342200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:105338400-105342200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:105338400-105342200	Weak transcription	Ovary	ovary
21	chr8:105338400-105342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:105338400-105342400	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:105338400-105342400	Weak transcription	NH-A	brain
24	chr8:105338800-105342800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:105339000-105342400	Weak transcription	Lung	lung
26	chr8:105340400-105342200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:105340400-105342400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:105340600-105342200	Weak transcription	Right Atrium	heart
29	chr8:105340600-105343600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:105340800-105342800	Enhancers	Placenta	Placenta
31	chr8:105340800-105343200	Enhancers	Primary hematopoietic stem cells	blood
32	chr8:105341000-105342200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:105341000-105342600	Enhancers	Primary B cells from cord blood	blood
34	chr8:105341000-105342600	Enhancers	Fetal Thymus	thymus
35	chr8:105341200-105342200	Weak transcription	Adipose Nuclei	Adipose
36	chr8:105341200-105342200	Weak transcription	Spleen	Spleen
37	chr8:105341200-105348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:105341400-105342400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:105341600-105342600	Enhancers	Primary B cells from peripheral blood	blood
40	chr8:105341600-105343600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:105341800-105342200	Weak transcription	Fetal Lung	lung
42	chr8:105341800-105342600	Enhancers	Thymus	Thymus
43	chr8:105341800-105342800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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