Variant report

Variant	rs2003414
Chromosome Location	chr8:105342278-105342279
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	chr8:105334748..105339134-chr8:105341304..105344043,3	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12679642	1.00[AFR][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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105333600-105342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:105336400-105342400	Weak transcription	K562	blood
3	chr8:105336600-105342400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:105336800-105342400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:105336800-105342400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:105337800-105343200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:105338000-105342800	Enhancers	GM12878-XiMat	blood
8	chr8:105338200-105342400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:105338200-105342400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:105338200-105342400	Weak transcription	NHLF	lung
11	chr8:105338400-105342400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:105338400-105342400	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:105338400-105342400	Weak transcription	NH-A	brain
14	chr8:105338800-105342800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:105339000-105342400	Weak transcription	Lung	lung
16	chr8:105340400-105342400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:105340600-105343600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:105340800-105342800	Enhancers	Placenta	Placenta
19	chr8:105340800-105343200	Enhancers	Primary hematopoietic stem cells	blood
20	chr8:105341000-105342600	Enhancers	Primary B cells from cord blood	blood
21	chr8:105341000-105342600	Enhancers	Fetal Thymus	thymus
22	chr8:105341200-105348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:105341400-105342400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:105341600-105342600	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:105341600-105343600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:105341800-105342600	Enhancers	Thymus	Thymus
27	chr8:105341800-105342800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr8:105342000-105342400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:105342000-105342600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:105342000-105342800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:105342000-105342800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr8:105342000-105342800	Enhancers	NHDF-Ad	bronchial
33	chr8:105342200-105342400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr8:105342200-105342400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:105342200-105342400	Active TSS	Adipose Nuclei	Adipose
36	chr8:105342200-105342400	Active TSS	Duodenum Mucosa	Duodenum
37	chr8:105342200-105342400	Enhancers	Fetal Lung	lung
38	chr8:105342200-105342400	Enhancers	Left Ventricle	heart
39	chr8:105342200-105342400	Active TSS	Psoas Muscle	Psoas
40	chr8:105342200-105342400	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr8:105342200-105342400	Flanking Active TSS	Right Atrium	heart
42	chr8:105342200-105342400	Flanking Active TSS	Right Ventricle	heart
43	chr8:105342200-105342600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:105342200-105342600	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr8:105342200-105342600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:105342200-105342600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr8:105342200-105342600	Active TSS	Primary T cells from cord blood	blood
48	chr8:105342200-105342600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr8:105342200-105342600	Active TSS	Colonic Mucosa	Colon
50	chr8:105342200-105342600	Enhancers	Ovary	ovary

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