Variant report

Variant	rs10942741
Chromosome Location	chr5:74950985-74950986
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10942740	0.86[AFR][1000 genomes]
rs1422442	0.86[AFR][1000 genomes]
rs16872696	0.86[AFR][1000 genomes]
rs16872701	0.86[AFR][1000 genomes]
rs16872706	0.86[AFR][1000 genomes]
rs16872788	0.88[AFR][1000 genomes]
rs6875527	0.88[AFR][1000 genomes]
rs7715152	0.98[AFR][1000 genomes];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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1850196	chr5:74890618-75138443	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv522003	chr5:74947435-74988369	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74921800-74964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74944800-74952200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:74945000-74962800	Weak transcription	Fetal Intestine Large	intestine
4	chr5:74946600-74952200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:74946600-74952400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:74947200-74952200	Enhancers	Fetal Heart	heart
7	chr5:74947600-74952000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr5:74948000-74951800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:74948000-74959200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:74948200-74952000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:74948400-74952400	Weak transcription	Fetal Brain Male	brain
12	chr5:74949200-74952000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:74949400-74951600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:74949600-74951600	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:74949800-74951200	Strong transcription	Fetal Intestine Small	intestine
16	chr5:74949800-74951600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr5:74950000-74951000	Enhancers	Right Ventricle	heart
18	chr5:74950000-74951200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:74950000-74951200	Enhancers	Left Ventricle	heart
20	chr5:74950000-74951600	Weak transcription	Brain Substantia Nigra	brain
21	chr5:74950200-74952200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:74950400-74952000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:74950600-74951000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:74950600-74951200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:74950600-74951200	Enhancers	K562	blood
26	chr5:74950600-74951200	Enhancers	NHEK	skin
27	chr5:74950600-74951600	Weak transcription	Fetal Kidney	kidney
28	chr5:74950800-74951000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:74950800-74951000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:74950800-74951000	Enhancers	Right Atrium	heart
31	chr5:74950800-74952200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:74950800-74952200	Enhancers	Fetal Stomach	stomach

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