Variant report

Variant	rs28444384
Chromosome Location	chr7:18688648-18688649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1018870	1.00[EUR][1000 genomes]
rs10241929	1.00[AMR][1000 genomes]
rs10249580	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10253041	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10254059	1.00[AMR][1000 genomes]
rs10278707	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17139704	1.00[AMR][1000 genomes]
rs2520336	1.00[EUR][1000 genomes]
rs2588613	1.00[EUR][1000 genomes]
rs2588624	1.00[EUR][1000 genomes]
rs28726229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58703332	1.00[AMR][1000 genomes]
rs6956490	1.00[AMR][1000 genomes]
rs7803715	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	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv830917	chr7:18612436-18817712	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv531368	chr7:18677922-18836920	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18645200-18708000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:18645400-18721000	Weak transcription	Psoas Muscle	Psoas
3	chr7:18645800-18706000	Weak transcription	HMEC	breast
4	chr7:18646000-18692400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr7:18656000-18706000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:18661800-18699800	Weak transcription	Right Ventricle	heart
7	chr7:18671400-18692600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:18671400-18705600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:18671600-18694400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:18673200-18707000	Weak transcription	Fetal Kidney	kidney
11	chr7:18677600-18691800	Strong transcription	Primary B cells from cord blood	blood
12	chr7:18678400-18702000	Weak transcription	Spleen	Spleen
13	chr7:18678400-18721200	Weak transcription	Brain Substantia Nigra	brain
14	chr7:18678600-18695400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:18678600-18695800	Weak transcription	Brain Anterior Caudate	brain
16	chr7:18679600-18692000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:18679600-18698000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:18682200-18695400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:18682400-18706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:18683200-18691600	Weak transcription	HSMM	muscle
21	chr7:18683600-18690000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:18683800-18696600	Weak transcription	Fetal Brain Male	brain
23	chr7:18686600-18688800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr7:18686600-18689400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:18686800-18699400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:18687000-18689400	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:18687200-18688800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:18687200-18689400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:18687400-18688800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:18687400-18688800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:18687400-18688800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:18687400-18688800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:18687400-18689000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:18687400-18689000	Strong transcription	Brain Germinal Matrix	brain
35	chr7:18687400-18689000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr7:18687400-18689200	Strong transcription	Fetal Brain Female	brain
37	chr7:18687400-18689400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:18687400-18689400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:18687400-18689400	Strong transcription	Adipose Nuclei	Adipose
40	chr7:18687400-18689400	Strong transcription	Fetal Muscle Leg	muscle
41	chr7:18687400-18689600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:18687400-18689600	Strong transcription	Aorta	Aorta
43	chr7:18687400-18689600	Strong transcription	Brain Angular Gyrus	brain
44	chr7:18687400-18689600	Strong transcription	HSMMtube	muscle
45	chr7:18687400-18690600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:18687400-18690800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:18687600-18688800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:18687600-18688800	Enhancers	Fetal Heart	heart
49	chr7:18687600-18689000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:18687600-18689200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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