Variant report

Variant	rs28412143
Chromosome Location	chr7:18703563-18703564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10240305	1.00[EUR][1000 genomes]
rs10241413	1.00[EUR][1000 genomes]
rs10243449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10247766	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11982882	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[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	1.00[EUR][1000 genomes]
rs73309583	1.00[EUR][1000 genomes]
rs73309585	1.00[EUR][1000 genomes]
rs73311460	1.00[EUR][1000 genomes]
rs73311471	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73311474	0.88[AFR][1000 genomes];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	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: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:43 , 50 per page) page: 1

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	chr7:18656000-18706000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:18671400-18705600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:18673200-18707000	Weak transcription	Fetal Kidney	kidney
7	chr7:18678400-18721200	Weak transcription	Brain Substantia Nigra	brain
8	chr7:18682400-18706000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:18688400-18706000	Weak transcription	NHEK	skin
10	chr7:18688400-18715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:18688600-18706000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:18688800-18705800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:18688800-18706600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:18688800-18746400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:18689000-18707400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr7:18689200-18704800	Weak transcription	Fetal Brain Female	brain
17	chr7:18689400-18705800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:18689400-18708200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:18689400-18713200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:18689600-18705800	Weak transcription	Left Ventricle	heart
21	chr7:18689600-18706800	Weak transcription	NH-A	brain
22	chr7:18690000-18708200	Weak transcription	Fetal Heart	heart
23	chr7:18693200-18704200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr7:18694600-18705800	Weak transcription	Esophagus	oesophagus
25	chr7:18695800-18706400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:18696200-18715000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:18696800-18710800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:18698000-18743400	Weak transcription	HSMMtube	muscle
29	chr7:18699400-18707600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:18699600-18706200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:18699600-18706800	Weak transcription	NHDF-Ad	bronchial
32	chr7:18699600-18708400	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:18699600-18776000	Weak transcription	Aorta	Aorta
34	chr7:18702400-18703600	Enhancers	Adipose Nuclei	Adipose
35	chr7:18702600-18703600	Enhancers	Spleen	Spleen
36	chr7:18702600-18705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:18703000-18703600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:18703200-18703600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:18703200-18706400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:18703200-18709800	Weak transcription	Primary B cells from cord blood	blood
41	chr7:18703400-18703600	Enhancers	Right Ventricle	heart
42	chr7:18703400-18705600	Weak transcription	HUVEC	blood vessel
43	chr7:18703400-18706000	Weak transcription	Primary monocytes fromperipheralblood	blood

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