Variant report

Variant	rs10799469
Chromosome Location	chr1:228374752-228374753
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228368663..228372025-chr1:228373776..228376708,3	K562	blood:
2	chr1:228369516..228372082-chr1:228373612..228375927,2	K562	blood:
3	chr1:228373990..228375977-chr1:228378218..228380125,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1059778	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10753445	0.88[EUR][1000 genomes]
rs10799468	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10916268	0.84[EUR][1000 genomes]
rs10916271	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11804508	0.81[EUR][1000 genomes]
rs12024649	0.80[EUR][1000 genomes]
rs12084338	0.85[AFR][1000 genomes]
rs12726781	0.81[EUR][1000 genomes]
rs12745416	0.81[EUR][1000 genomes]
rs1620111	0.81[EUR][1000 genomes]
rs2185544	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2313601	0.81[EUR][1000 genomes]
rs2313602	0.84[EUR][1000 genomes]
rs2776853	0.80[EUR][1000 genomes]
rs3121192	0.80[EUR][1000 genomes]
rs4653536	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4653915	0.84[EUR][1000 genomes]
rs4653920	0.86[AFR][1000 genomes]
rs55971985	0.81[EUR][1000 genomes]
rs6426492	0.81[EUR][1000 genomes]
rs7532924	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
11	esv1808523	chr1:228359177-228400358	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10799469	OBSCN	cis	Esophagus Mucosa	GTEx
rs10799469	OBSCN	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228354400-228384600	Weak transcription	Aorta	Aorta
2	chr1:228354600-228382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:228354600-228385200	Weak transcription	Left Ventricle	heart
4	chr1:228363400-228375000	Weak transcription	Esophagus	oesophagus
5	chr1:228363400-228375800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:228363400-228386400	Weak transcription	Brain Angular Gyrus	brain
7	chr1:228363600-228374800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr1:228363800-228385200	Weak transcription	Adipose Nuclei	Adipose
9	chr1:228364000-228384800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:228364400-228386600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:228364400-228388600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:228364600-228386600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:228364800-228375800	Weak transcription	Brain Germinal Matrix	brain
14	chr1:228364800-228385600	Weak transcription	Brain Anterior Caudate	brain
15	chr1:228365000-228377600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:228365000-228379600	Weak transcription	Gastric	stomach
17	chr1:228365000-228380400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:228365200-228375400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:228365200-228386600	Weak transcription	Thymus	Thymus
20	chr1:228365200-228387800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:228365800-228375800	Weak transcription	Fetal Brain Female	brain
22	chr1:228365800-228382600	Weak transcription	Spleen	Spleen
23	chr1:228366000-228386400	Weak transcription	Primary B cells from cord blood	blood
24	chr1:228366800-228379600	Weak transcription	Placenta	Placenta
25	chr1:228366800-228385200	Weak transcription	Ovary	ovary
26	chr1:228366800-228386600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:228366800-228393400	Weak transcription	Right Ventricle	heart
28	chr1:228368600-228376000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:228369600-228376000	Weak transcription	Fetal Intestine Small	intestine
30	chr1:228369600-228379600	Weak transcription	Lung	lung
31	chr1:228369800-228379600	Weak transcription	Psoas Muscle	Psoas
32	chr1:228370000-228378800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:228371200-228386400	Weak transcription	Primary T cells from cord blood	blood
34	chr1:228372000-228377800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr1:228372400-228379600	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:228372800-228374800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:228373000-228374800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr1:228373000-228374800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:228373000-228374800	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:228373000-228377000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:228373600-228382600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:228373800-228386200	Weak transcription	Fetal Stomach	stomach
43	chr1:228373800-228394000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:228374600-228374800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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