Variant report

Variant	rs57417026
Chromosome Location	chr10:49686086-49686087
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	chr10:49629411..49632301-chr10:49684401..49686172,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1550775	1.00[AMR][1000 genomes]
rs28414616	1.00[AMR][1000 genomes]
rs56792058	1.00[AMR][1000 genomes]
rs58480554	1.00[AMR][1000 genomes]
rs60236086	1.00[AMR][1000 genomes]
rs60709722	1.00[AMR][1000 genomes]
rs7088262	1.00[AMR][1000 genomes]
rs73298212	1.00[AMR][1000 genomes]
rs73298215	1.00[AMR][1000 genomes]
rs73298221	1.00[AMR][1000 genomes]
rs73298225	1.00[AMR][1000 genomes]
rs73298237	1.00[AMR][1000 genomes]
rs73303075	1.00[AMR][1000 genomes]
rs74130585	1.00[AMR][1000 genomes]
rs7893181	1.00[AMR][1000 genomes]
rs7899637	1.00[AMR][1000 genomes]
rs7911933	1.00[AMR][1000 genomes]
rs7916864	1.00[AMR][1000 genomes]
rs9732742	1.00[AMR][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:37 , 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	chr10:49679400-49686200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr10:49679800-49686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:49679800-49689000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:49679800-49704200	Weak transcription	NH-A	brain
7	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial
8	chr10:49681200-49689200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr10:49683000-49686200	Enhancers	K562	blood
10	chr10:49683200-49687600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:49683400-49689200	Strong transcription	NHLF	lung
12	chr10:49683600-49687400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:49683600-49688800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:49683800-49689600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:49684000-49686800	Weak transcription	Spleen	Spleen
16	chr10:49684000-49689000	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr10:49684400-49688600	Weak transcription	Right Atrium	heart
18	chr10:49684600-49687000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:49684600-49687400	Strong transcription	HSMM	muscle
20	chr10:49684600-49688000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:49684600-49688600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:49684800-49688600	Weak transcription	Left Ventricle	heart
23	chr10:49684800-49690600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr10:49684800-49693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr10:49685000-49687200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:49685000-49687400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr10:49685000-49689000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:49685400-49686400	Enhancers	Brain Substantia Nigra	brain
29	chr10:49685400-49686400	Genic enhancers	Osteobl	bone
30	chr10:49685600-49701000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:49685800-49686400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr10:49685800-49687600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:49685800-49687800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr10:49685800-49692000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr10:49685800-49692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr10:49685800-49694800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr10:49685800-49704800	Weak transcription	HUVEC	blood vessel

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