Variant report

Variant	rs16904266
Chromosome Location	chr8:131421670-131421671
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	chr8:131419011..131421819-chr8:131431981..131433568,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16904265	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4495444	1.00[GIH][hapmap]
rs55637017	0.91[EUR][1000 genomes]
rs55642195	1.00[EUR][1000 genomes]
rs55686856	1.00[EUR][1000 genomes]
rs55692599	0.91[EUR][1000 genomes]
rs55758693	0.91[EUR][1000 genomes]
rs55759431	1.00[EUR][1000 genomes]
rs55891945	0.91[EUR][1000 genomes]
rs55961633	0.91[EUR][1000 genomes]
rs56241132	0.91[EUR][1000 genomes]
rs56285703	0.91[EUR][1000 genomes]
rs56297697	0.91[EUR][1000 genomes]
rs56308942	1.00[EUR][1000 genomes]
rs56313701	1.00[EUR][1000 genomes]
rs56323699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56336751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56349599	0.91[EUR][1000 genomes]
rs56385215	1.00[EUR][1000 genomes]
rs56405390	0.91[EUR][1000 genomes]
rs6993944	1.00[EUR][1000 genomes]
rs6994242	0.91[EUR][1000 genomes]
rs6994477	1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6998031	0.91[EUR][1000 genomes]
rs7005271	1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs7462977	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815532	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7821742	1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs7836688	0.91[EUR][1000 genomes]

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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131395600-131434200	Weak transcription	Hela-S3	cervix
2	chr8:131401600-131421800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131405600-131422800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:131405600-131423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:131408000-131422200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:131409200-131422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:131409200-131424000	Weak transcription	Right Ventricle	heart
8	chr8:131409200-131426400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:131409200-131431800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:131409400-131421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:131409600-131428400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:131410000-131423200	Weak transcription	Adipose Nuclei	Adipose
13	chr8:131410000-131423200	Weak transcription	Ovary	ovary
14	chr8:131414400-131431400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:131414600-131422000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:131414600-131431000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:131414800-131422000	Weak transcription	Fetal Heart	heart
18	chr8:131417000-131440600	Weak transcription	Fetal Kidney	kidney
19	chr8:131417200-131428000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:131417400-131422800	Weak transcription	NH-A	brain
21	chr8:131417600-131422600	Weak transcription	HSMMtube	muscle
22	chr8:131418000-131422800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:131418000-131422800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:131418000-131422800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:131418000-131423600	Weak transcription	HepG2	liver
26	chr8:131418600-131428200	Weak transcription	HMEC	breast
27	chr8:131419600-131423400	Weak transcription	NHEK	skin
28	chr8:131419800-131421800	Weak transcription	Left Ventricle	heart
29	chr8:131419800-131421800	Weak transcription	Right Atrium	heart
30	chr8:131419800-131423200	Weak transcription	Spleen	Spleen
31	chr8:131420000-131422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:131420000-131423400	Weak transcription	Lung	lung
33	chr8:131420200-131428200	Weak transcription	NHDF-Ad	bronchial
34	chr8:131420600-131422800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:131420600-131428000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:131420600-131428000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:131420600-131428200	Weak transcription	NHLF	lung
38	chr8:131420800-131423600	Weak transcription	Osteobl	bone
39	chr8:131420800-131424000	Weak transcription	Brain Germinal Matrix	brain
40	chr8:131421000-131421800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:131421000-131422200	Enhancers	GM12878-XiMat	blood
42	chr8:131421000-131422600	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:131421000-131428400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:131421000-131433400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:131421200-131421800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:131421200-131423400	Weak transcription	HUVEC	blood vessel
47	chr8:131421200-131424000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:131421400-131422000	Enhancers	Primary B cells from peripheral blood	blood
49	chr8:131421600-131422000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:131421600-131422200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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