Variant report

Variant	rs16888495
Chromosome Location	chr8:39850484-39850485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10098200	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs16888520	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs28532738	0.81[AFR][1000 genomes]
rs7842669	0.81[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	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1033371	chr8:39749437-39899540	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39835200-39853600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:39843000-39853000	Weak transcription	Lung	lung
3	chr8:39847200-39851200	Enhancers	Rectal Smooth Muscle	rectum
4	chr8:39847600-39851200	Enhancers	Fetal Heart	heart
5	chr8:39847600-39851400	Enhancers	Colon Smooth Muscle	Colon
6	chr8:39847600-39853600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:39847800-39851200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:39847800-39854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:39849000-39853400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:39849400-39850600	Enhancers	Right Atrium	heart
11	chr8:39849600-39850600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:39849600-39850600	Enhancers	Left Ventricle	heart
13	chr8:39849600-39851400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:39849800-39850600	Enhancers	Ovary	ovary
15	chr8:39849800-39851000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:39849800-39851000	Enhancers	Right Ventricle	heart
17	chr8:39849800-39851000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr8:39849800-39853600	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:39850000-39850600	Enhancers	Brain Cingulate Gyrus	brain
20	chr8:39850200-39850600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:39850200-39850600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:39850200-39850600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:39850200-39850600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:39850200-39850600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr8:39850200-39850600	Enhancers	Fetal Stomach	stomach
26	chr8:39850200-39850600	Flanking Active TSS	A549	lung
27	chr8:39850200-39850600	Enhancers	K562	blood
28	chr8:39850200-39850800	Enhancers	GM12878-XiMat	blood
29	chr8:39850400-39850600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:39850400-39850600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:39850400-39850600	Enhancers	Hela-S3	cervix
32	chr8:39850400-39850800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:39850400-39851000	Enhancers	NH-A	brain

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