Variant report

Variant	rs6469116
Chromosome Location	chr8:108502688-108502689
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	chr8:108500515..108503478-chr8:108505765..108508239,2	K562	blood:

Variant related genes	Relation type
ENSG00000154188	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10216767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1157412	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13257142	0.80[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs1368489	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368490	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368491	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433170	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1433173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4496939	0.87[ASN][1000 genomes]
rs4734972	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013053	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951759	0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825819	chr8:108495057-108506185	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv1832361	chr8:108495057-108506185	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1844679	chr8:108495057-108506185	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108497000-108503600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:108497600-108504200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:108497800-108503600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:108497800-108508400	Weak transcription	Left Ventricle	heart
5	chr8:108498200-108506800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:108498400-108506800	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:108498400-108507400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:108499000-108503200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:108499000-108506600	Weak transcription	Brain Substantia Nigra	brain
10	chr8:108499400-108507000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:108499600-108503000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:108499600-108506800	Weak transcription	Fetal Thymus	thymus
13	chr8:108499800-108506800	Weak transcription	Aorta	Aorta
14	chr8:108500400-108507200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:108501000-108504000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:108501200-108503000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:108501200-108503000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:108501200-108503000	Enhancers	Adipose Nuclei	Adipose
19	chr8:108501200-108504200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:108501400-108503000	Enhancers	Colon Smooth Muscle	Colon
21	chr8:108501400-108503200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:108501400-108503200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:108501600-108502800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:108501600-108503000	Enhancers	NH-A	brain
25	chr8:108501800-108502800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:108501800-108502800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:108501800-108502800	Enhancers	Ovary	ovary
28	chr8:108501800-108502800	Enhancers	A549	lung
29	chr8:108501800-108503000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:108501800-108503000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:108501800-108503000	Enhancers	Fetal Heart	heart
32	chr8:108501800-108505200	Weak transcription	Fetal Kidney	kidney
33	chr8:108502000-108502800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr8:108502000-108502800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:108502000-108502800	Enhancers	Brain Germinal Matrix	brain
36	chr8:108502000-108502800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:108502000-108502800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:108502000-108502800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr8:108502000-108502800	Enhancers	NHEK	skin
40	chr8:108502000-108503000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:108502000-108503000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:108502000-108503000	Enhancers	Rectal Smooth Muscle	rectum
43	chr8:108502000-108504000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:108502200-108502800	Enhancers	NHDF-Ad	bronchial
45	chr8:108502200-108503000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:108502200-108503000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:108502200-108503000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:108502200-108503000	Enhancers	Fetal Lung	lung
49	chr8:108502200-108503600	Enhancers	Primary hematopoietic stem cells	blood
50	chr8:108502200-108504200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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