Variant report

Variant	rs73103467
Chromosome Location	chr7:47851654-47851655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10429127	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12702392	0.82[EUR][1000 genomes]
rs12702393	0.82[EUR][1000 genomes]
rs13231277	0.82[EUR][1000 genomes]
rs13239205	0.81[EUR][1000 genomes]
rs13241400	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246591	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247692	0.92[EUR][1000 genomes]
rs13247756	0.92[EUR][1000 genomes]
rs17131825	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131827	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17131855	0.92[EUR][1000 genomes]
rs17545682	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1851403	0.90[EUR][1000 genomes]
rs2123610	0.92[EUR][1000 genomes]
rs34069037	0.94[EUR][1000 genomes]
rs34703899	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34712849	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35030912	0.81[EUR][1000 genomes]
rs35781192	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4391316	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66733202	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66755489	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67572268	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6950328	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6970132	0.81[EUR][1000 genomes]
rs7780916	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7802098	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
2	chr7:47838400-47853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:47842600-47852000	Weak transcription	Gastric	stomach
4	chr7:47845600-47852400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:47846600-47852800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:47846800-47858600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:47847400-47852200	Weak transcription	Left Ventricle	heart
8	chr7:47847400-47854000	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:47847600-47855800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:47847600-47858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:47847800-47852200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:47847800-47853000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:47847800-47853000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:47847800-47854200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:47848000-47852600	Weak transcription	Spleen	Spleen
16	chr7:47848000-47853200	Weak transcription	Primary B cells from cord blood	blood
17	chr7:47848200-47853000	Weak transcription	Adipose Nuclei	Adipose
18	chr7:47848400-47853400	Weak transcription	A549	lung
19	chr7:47848400-47857600	Weak transcription	HSMMtube	muscle
20	chr7:47850600-47853000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:47851200-47853200	Enhancers	Brain Angular Gyrus	brain
22	chr7:47851200-47853200	Enhancers	Brain Anterior Caudate	brain
23	chr7:47851200-47853400	Enhancers	Brain Substantia Nigra	brain
24	chr7:47851200-47853600	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:47851200-47853600	Enhancers	Brain Hippocampus Middle	brain
26	chr7:47851200-47853600	Enhancers	HepG2	liver
27	chr7:47851200-47853800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr7:47851200-47854800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr7:47851200-47855200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:47851400-47852000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr7:47851400-47852400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:47851400-47853200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:47851600-47851800	Weak transcription	Fetal Stomach	stomach
34	chr7:47851600-47852200	Weak transcription	Lung	lung
35	chr7:47851600-47853200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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