Variant report

Variant	rs72783093
Chromosome Location	chr10:49684843-49684844
allele	A/G
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:
2	chr10:49683409..49685423-chr10:49724678..49727528,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11812546	0.85[ASN][1000 genomes]
rs3906889	0.80[ASN][1000 genomes]
rs4080665	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56342922	0.80[ASN][1000 genomes]
rs60214846	0.80[ASN][1000 genomes]
rs60262503	0.80[ASN][1000 genomes]
rs61838734	0.80[ASN][1000 genomes]
rs7069220	0.80[ASN][1000 genomes]
rs7093726	0.80[ASN][1000 genomes]
rs72783094	0.90[ASN][1000 genomes]
rs72783101	0.90[ASN][1000 genomes]
rs73303077	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7895980	0.85[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:48 , 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	chr10:49679600-49685400	Weak transcription	Brain Angular Gyrus	brain
5	chr10:49679800-49686800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:49679800-49689000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:49679800-49704200	Weak transcription	NH-A	brain
8	chr10:49679800-49704200	Weak transcription	NHDF-Ad	bronchial
9	chr10:49681200-49689200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr10:49682800-49685400	Enhancers	Primary hematopoietic stem cells	blood
11	chr10:49683000-49686200	Enhancers	K562	blood
12	chr10:49683200-49687600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:49683400-49689200	Strong transcription	NHLF	lung
14	chr10:49683600-49687400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:49683600-49688800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:49683800-49689600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr10:49684000-49685000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:49684000-49685000	Enhancers	Ovary	ovary
19	chr10:49684000-49685400	Weak transcription	Brain Substantia Nigra	brain
20	chr10:49684000-49685400	Strong transcription	Osteobl	bone
21	chr10:49684000-49685800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr10:49684000-49685800	Enhancers	HMEC	breast
23	chr10:49684000-49686800	Weak transcription	Spleen	Spleen
24	chr10:49684000-49689000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr10:49684200-49685000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr10:49684200-49685000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:49684200-49685000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr10:49684200-49685200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr10:49684200-49685200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:49684200-49685200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:49684200-49685800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr10:49684200-49685800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:49684200-49685800	Enhancers	HUVEC	blood vessel
34	chr10:49684400-49685000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:49684400-49685000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:49684400-49685000	Enhancers	GM12878-XiMat	blood
37	chr10:49684400-49688600	Weak transcription	Right Atrium	heart
38	chr10:49684600-49685000	Enhancers	NHEK	skin
39	chr10:49684600-49685600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:49684600-49685800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr10:49684600-49687000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:49684600-49687400	Strong transcription	HSMM	muscle
43	chr10:49684600-49688000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:49684600-49688600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr10:49684800-49685000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:49684800-49688600	Weak transcription	Left Ventricle	heart
47	chr10:49684800-49690600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr10:49684800-49693000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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