Variant report

Variant	rs73315005
Chromosome Location	chr7:18640350-18640351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10216127	1.00[EUR][1000 genomes]
rs10225505	1.00[EUR][1000 genomes]
rs10227283	1.00[EUR][1000 genomes]
rs10240305	1.00[EUR][1000 genomes]
rs10241413	1.00[EUR][1000 genomes]
rs10243449	1.00[EUR][1000 genomes]
rs10247766	1.00[EUR][1000 genomes]
rs11982882	1.00[EUR][1000 genomes]
rs28412143	1.00[EUR][1000 genomes]
rs3852248	1.00[EUR][1000 genomes]
rs4605958	1.00[EUR][1000 genomes]
rs58820211	1.00[EUR][1000 genomes]
rs59508709	1.00[EUR][1000 genomes]
rs61710852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309431	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309445	1.00[EUR][1000 genomes]
rs73309460	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309462	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309471	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309546	1.00[EUR][1000 genomes]
rs73309559	1.00[EUR][1000 genomes]
rs73309576	1.00[EUR][1000 genomes]
rs73309579	1.00[EUR][1000 genomes]
rs73309582	1.00[EUR][1000 genomes]
rs73309583	1.00[EUR][1000 genomes]
rs73309585	1.00[EUR][1000 genomes]
rs73311460	1.00[EUR][1000 genomes]
rs73311471	1.00[EUR][1000 genomes]
rs73311474	1.00[EUR][1000 genomes]
rs73311499	1.00[EUR][1000 genomes]
rs73313258	1.00[EUR][1000 genomes]
rs73313265	1.00[EUR][1000 genomes]
rs73313268	1.00[EUR][1000 genomes]
rs73313274	1.00[EUR][1000 genomes]
rs73313277	1.00[EUR][1000 genomes]
rs73313283	1.00[EUR][1000 genomes]
rs73313295	1.00[EUR][1000 genomes]
rs73313298	1.00[EUR][1000 genomes]
rs73313299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313328	1.00[EUR][1000 genomes]
rs73313352	1.00[EUR][1000 genomes]
rs73313388	1.00[EUR][1000 genomes]
rs73313400	1.00[EUR][1000 genomes]
rs73313402	1.00[EUR][1000 genomes]
rs73315007	1.00[EUR][1000 genomes]
rs73315009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73315010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73315435	1.00[EUR][1000 genomes]
rs7812153	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18614600-18640400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:18614600-18640400	Weak transcription	Spleen	Spleen
3	chr7:18614600-18644200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:18617000-18640400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:18618400-18641000	Weak transcription	Psoas Muscle	Psoas
6	chr7:18621000-18640800	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:18621000-18641200	Weak transcription	Right Ventricle	heart
8	chr7:18621200-18646800	Weak transcription	HSMM	muscle
9	chr7:18621400-18641000	Weak transcription	Brain Anterior Caudate	brain
10	chr7:18621800-18643600	Weak transcription	Brain Germinal Matrix	brain
11	chr7:18622000-18641000	Weak transcription	Brain Substantia Nigra	brain
12	chr7:18628000-18640800	Weak transcription	HMEC	breast
13	chr7:18628600-18640400	Weak transcription	NHEK	skin
14	chr7:18630000-18640400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:18630200-18640400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:18630600-18640400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:18631000-18640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:18632000-18640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:18632000-18640800	Weak transcription	NH-A	brain
20	chr7:18633000-18640600	Weak transcription	Osteobl	bone
21	chr7:18633000-18645400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:18633800-18641000	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:18633800-18647000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:18633800-18650000	Weak transcription	Aorta	Aorta
25	chr7:18634000-18640600	Weak transcription	Adipose Nuclei	Adipose
26	chr7:18634000-18640800	Weak transcription	HSMMtube	muscle
27	chr7:18635600-18640400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:18637800-18641000	Weak transcription	NHDF-Ad	bronchial
29	chr7:18637800-18647200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:18638000-18641000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:18638000-18645200	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:18638400-18641400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:18638400-18647000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:18638600-18641600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:18639000-18641400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:18639200-18641000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:18639200-18641400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr7:18639200-18642200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr7:18639200-18642800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr7:18639600-18641400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr7:18640000-18641200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
42	chr7:18640000-18641600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
43	chr7:18640000-18642600	ZNF genes & repeats	Fetal Brain Female	brain
44	chr7:18640000-18642800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr7:18640000-18643000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:18640000-18645200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
47	chr7:18640000-18646000	ZNF genes & repeats	Primary B cells from cord blood	blood
48	chr7:18640200-18640800	Strong transcription	Left Ventricle	heart
49	chr7:18640200-18641200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
50	chr7:18640200-18641400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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