Variant report

Variant	rs280609
Chromosome Location	chr10:49459221-49459222
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1465605	0.88[AFR][1000 genomes]
rs1652245	0.88[AFR][1000 genomes]
rs426153	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895367	chr10:49333754-49491047	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv895370	chr10:49421173-49484698	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49450800-49459400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:49451800-49459400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr10:49452000-49459400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr10:49455800-49459400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:49457000-49459400	Weak transcription	GM12878-XiMat	blood
6	chr10:49457000-49460800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:49457600-49459400	Weak transcription	Right Ventricle	heart
8	chr10:49458200-49459400	Weak transcription	Left Ventricle	heart
9	chr10:49458200-49460800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:49458400-49464000	Weak transcription	Right Atrium	heart
11	chr10:49458800-49460800	Enhancers	Fetal Thymus	thymus
12	chr10:49458800-49463600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:49459000-49460400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr10:49459000-49460800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:49459000-49460800	Enhancers	Esophagus	oesophagus
16	chr10:49459000-49461400	Enhancers	Fetal Heart	heart
17	chr10:49459000-49463600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr10:49459000-49463600	Enhancers	HMEC	breast
19	chr10:49459200-49459400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:49459200-49459800	Enhancers	Brain Hippocampus Middle	brain
21	chr10:49459200-49459800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr10:49459200-49460000	Flanking Active TSS	HepG2	liver
23	chr10:49459200-49460400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr10:49459200-49460400	Enhancers	Fetal Kidney	kidney
25	chr10:49459200-49460400	Enhancers	Gastric	stomach
26	chr10:49459200-49460600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:49459200-49460800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr10:49459200-49460800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:49459200-49460800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:49459200-49460800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr10:49459200-49460800	Enhancers	Pancreas	Pancrea
32	chr10:49459200-49461000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr10:49459200-49461000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr10:49459200-49462200	Enhancers	NHEK	skin

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