Variant report

Variant	rs3888299
Chromosome Location	chr10:49687030-49687031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2166224	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2377354	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3888909	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889334	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3896665	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3954044	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4575219	0.92[ASN][1000 genomes]
rs4838597	0.82[ASN][1000 genomes]
rs61838750	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs730509	0.81[ASN][1000 genomes]
rs9794032	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49678200-49687200	Weak transcription	HSMMtube	muscle
2	chr10:49679200-49690400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:49679800-49689000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr10:49679800-49704200	Weak transcription	NH-A	brain
5	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial
6	chr10:49681200-49689200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr10:49683200-49687600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:49683400-49689200	Strong transcription	NHLF	lung
9	chr10:49683600-49687400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:49683600-49688800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:49683800-49689600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:49684000-49689000	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr10:49684400-49688600	Weak transcription	Right Atrium	heart
14	chr10:49684600-49687400	Strong transcription	HSMM	muscle
15	chr10:49684600-49688000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:49684600-49688600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr10:49684800-49688600	Weak transcription	Left Ventricle	heart
18	chr10:49684800-49690600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:49684800-49693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:49685000-49687200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:49685000-49687400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:49685000-49689000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:49685600-49701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:49685800-49687600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:49685800-49687800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr10:49685800-49692000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr10:49685800-49692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:49685800-49694800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr10:49685800-49704800	Weak transcription	HUVEC	blood vessel
30	chr10:49686200-49687400	Genic enhancers	K562	blood
31	chr10:49686400-49688800	Strong transcription	Osteobl	bone
32	chr10:49686400-49690200	Enhancers	Primary hematopoietic stem cells	blood
33	chr10:49686800-49687400	Enhancers	Spleen	Spleen
34	chr10:49686800-49687600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:49687000-49704400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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