Variant report

Variant	rs73313283
Chromosome Location	chr7:18629915-18629916
allele	A/G
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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61710852	1.00[EUR][1000 genomes]
rs73309431	1.00[EUR][1000 genomes]
rs73309436	1.00[EUR][1000 genomes]
rs73309439	1.00[EUR][1000 genomes]
rs73309445	1.00[EUR][1000 genomes]
rs73309460	1.00[EUR][1000 genomes]
rs73309462	1.00[EUR][1000 genomes]
rs73309467	1.00[EUR][1000 genomes]
rs73309471	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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309583	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309585	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313268	1.00[EUR][1000 genomes]
rs73313274	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313295	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313298	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313299	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]
rs73315005	1.00[EUR][1000 genomes]
rs73315007	1.00[EUR][1000 genomes]
rs73315009	1.00[EUR][1000 genomes]
rs73315010	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18606800-18631400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:18607000-18630000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:18611600-18633000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:18613200-18633200	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:18613600-18633200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:18614200-18633200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:18614400-18630000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:18614600-18631200	Weak transcription	Fetal Stomach	stomach
9	chr7:18614600-18633200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:18614600-18640400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:18614600-18640400	Weak transcription	Spleen	Spleen
12	chr7:18614600-18644200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:18616200-18630000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:18617000-18640400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:18618400-18641000	Weak transcription	Psoas Muscle	Psoas
16	chr7:18620800-18633200	Weak transcription	Adipose Nuclei	Adipose
17	chr7:18621000-18631200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:18621000-18633400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:18621000-18640800	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:18621000-18641200	Weak transcription	Right Ventricle	heart
21	chr7:18621200-18638000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:18621200-18640200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:18621200-18646800	Weak transcription	HSMM	muscle
24	chr7:18621400-18639000	Weak transcription	Fetal Brain Female	brain
25	chr7:18621400-18641000	Weak transcription	Brain Anterior Caudate	brain
26	chr7:18621600-18633200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:18621800-18633000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:18621800-18643600	Weak transcription	Brain Germinal Matrix	brain
29	chr7:18622000-18641000	Weak transcription	Brain Substantia Nigra	brain
30	chr7:18622600-18638400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:18623000-18631200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:18623400-18631200	Weak transcription	NH-A	brain
33	chr7:18623600-18631200	Weak transcription	Aorta	Aorta
34	chr7:18623800-18633200	Weak transcription	HSMMtube	muscle
35	chr7:18623800-18640200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:18624200-18633400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:18625400-18633200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:18625400-18633200	Weak transcription	Left Ventricle	heart
39	chr7:18625400-18636400	Weak transcription	Fetal Heart	heart
40	chr7:18627400-18639200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:18628000-18640800	Weak transcription	HMEC	breast
42	chr7:18628200-18630000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:18628400-18633400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:18628600-18640400	Weak transcription	NHEK	skin
45	chr7:18629200-18630200	Genic enhancers	Primary B cells from cord blood	blood
46	chr7:18629400-18631200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:18629400-18637800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:18629600-18630000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:18629600-18630200	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr7:18629600-18630200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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