Variant report

Variant	rs4749242
Chromosome Location	chr10:27547367-27547368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10430598	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10430599	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10829219	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10829220	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10829221	0.83[ASN][1000 genomes]
rs11015626	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11015627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1144510	0.86[ASN][1000 genomes]
rs1144511	0.87[ASN][1000 genomes]
rs1148167	0.86[ASN][1000 genomes]
rs1328602	0.82[ASN][1000 genomes]
rs4749241	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088127	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7095530	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7895094	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7896532	0.83[ASN][1000 genomes]
rs7907444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4749242	ARMC4P1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27542000-27547400	Weak transcription	Right Ventricle	heart
2	chr10:27542000-27547600	Weak transcription	Pancreas	Pancrea
3	chr10:27546400-27547400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
4	chr10:27546400-27547600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
5	chr10:27546400-27547600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:27546400-27547600	Bivalent Enhancer	Fetal Thymus	thymus
7	chr10:27546600-27547400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr10:27546600-27547400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
9	chr10:27546600-27547600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
10	chr10:27546600-27547800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:27546600-27547800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
12	chr10:27546600-27548600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
13	chr10:27546800-27547400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
14	chr10:27546800-27547400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr10:27546800-27547400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr10:27546800-27547400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:27546800-27547600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr10:27546800-27547600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr10:27546800-27549000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr10:27547000-27547400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr10:27547000-27547400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr10:27547000-27547400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
23	chr10:27547000-27547400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:27547000-27547400	Bivalent Enhancer	Fetal Intestine Small	intestine
25	chr10:27547000-27547600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
26	chr10:27547000-27547600	Bivalent Enhancer	HepG2	liver
27	chr10:27547200-27547400	Bivalent Enhancer	Primary T cells from cord blood	blood
28	chr10:27547200-27547400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
29	chr10:27547200-27547400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
30	chr10:27547200-27547400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
31	chr10:27547200-27547400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:27547200-27547400	Enhancers	Fetal Heart	heart
33	chr10:27547200-27547600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr10:27547200-27548000	Flanking Active TSS	Primary B cells from cord blood	blood

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