Variant report

Variant	rs71508040
Chromosome Location	chr10:51829836-51829837
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1072794	0.85[AMR][1000 genomes]
rs12571765	0.90[AMR][1000 genomes]
rs2009551	0.85[AMR][1000 genomes]
rs2338056	0.85[AMR][1000 genomes]
rs2805111	0.81[AMR][1000 genomes]
rs3886108	0.83[AMR][1000 genomes]
rs4301736	0.83[AMR][1000 genomes]
rs57052909	0.95[AMR][1000 genomes]
rs58186870	0.90[AMR][1000 genomes]
rs60293935	0.83[AMR][1000 genomes]
rs60539478	0.85[AMR][1000 genomes]
rs60965269	0.85[AMR][1000 genomes]
rs6481013	0.85[AMR][1000 genomes]
rs7069872	0.85[AMR][1000 genomes]
rs7074294	0.85[AMR][1000 genomes]
rs7097164	0.85[AMR][1000 genomes]
rs73315603	0.85[AMR][1000 genomes]
rs7894916	0.85[AMR][1000 genomes]
rs7902594	0.85[AMR][1000 genomes]
rs7905304	0.85[AMR][1000 genomes]
rs7905974	0.85[AMR][1000 genomes]
rs7906068	0.90[AMR][1000 genomes]
rs7915651	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758219	chr10:50971974-51925166	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv2759749	chr10:50971974-51925166	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv428232	chr10:50971974-51925166	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv1830900	chr10:51187411-51903662	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv518071	chr10:51595893-52157935	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv3521278	chr10:51635096-52001994	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv3521279	chr10:51635096-52001994	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs71508040	FAM21A	cis	Muscle Skeletal	GTEx

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51828000-51837200	Weak transcription	Spleen	Spleen
2	chr10:51828200-51837400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:51828400-51830000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr10:51828400-51830600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr10:51828400-51834600	Weak transcription	Gastric	stomach
6	chr10:51828400-51836000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:51828400-51837200	Weak transcription	Lung	lung
8	chr10:51828400-51837200	Weak transcription	HSMMtube	muscle
9	chr10:51828400-51837400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:51828400-51837600	Weak transcription	Brain Substantia Nigra	brain
11	chr10:51828400-51837800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:51828400-51853800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:51828600-51830400	Weak transcription	Brain Angular Gyrus	brain
14	chr10:51828600-51830400	Weak transcription	Fetal Brain Female	brain
15	chr10:51828600-51830600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr10:51828600-51831200	Weak transcription	Brain Hippocampus Middle	brain
17	chr10:51828600-51834000	Weak transcription	Liver	Liver
18	chr10:51828600-51835000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr10:51828600-51835800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr10:51828600-51835800	Weak transcription	Brain Anterior Caudate	brain
21	chr10:51828600-51835800	Weak transcription	Fetal Intestine Large	intestine
22	chr10:51828600-51836800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:51828600-51837200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:51828600-51837400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr10:51828600-51837400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:51828600-51837400	Weak transcription	Placenta	Placenta
27	chr10:51828600-51837600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:51828600-51837600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr10:51828600-51837600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr10:51828600-51837600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr10:51828600-51837600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr10:51828600-51837600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr10:51828600-51837600	Weak transcription	Fetal Thymus	thymus
34	chr10:51828600-51837600	Weak transcription	Thymus	Thymus
35	chr10:51828600-51837800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:51828600-51837800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:51828600-51838000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr10:51828600-51838000	Weak transcription	Fetal Stomach	stomach
39	chr10:51828600-51891800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:51828600-51893400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr10:51828800-51830600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr10:51828800-51830800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr10:51828800-51832600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:51828800-51832600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr10:51828800-51832800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr10:51828800-51835200	Weak transcription	Fetal Intestine Small	intestine
47	chr10:51828800-51837400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:51828800-51837400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:51828800-51837600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr10:51828800-51837600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links