Variant report

Variant	rs1388112
Chromosome Location	chr5:53230760-53230761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10471385	1.00[ASN][1000 genomes]
rs11738715	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739045	1.00[ASN][1000 genomes]
rs11743937	1.00[ASN][1000 genomes]
rs11747933	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12658939	0.83[CEU][hapmap]
rs1504213	1.00[ASN][1000 genomes]
rs17250294	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17250527	0.91[CEU][hapmap];0.82[MEX][hapmap]
rs17309757	0.91[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap]
rs17319376	1.00[ASN][1000 genomes]
rs2035769	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270688	0.91[CEU][hapmap]
rs3822501	0.91[CEU][hapmap];0.82[MEX][hapmap]
rs4604144	1.00[ASN][1000 genomes]
rs55846014	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56245000	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62372372	1.00[ASN][1000 genomes]
rs62372373	1.00[ASN][1000 genomes]
rs62372374	1.00[ASN][1000 genomes]
rs62372375	1.00[ASN][1000 genomes]
rs62372376	1.00[ASN][1000 genomes]
rs62372391	1.00[ASN][1000 genomes]
rs6898965	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750220	1.00[ASN][1000 genomes]
rs72759303	1.00[ASN][1000 genomes]
rs72759306	1.00[ASN][1000 genomes]
rs72759309	1.00[ASN][1000 genomes]
rs72759312	1.00[ASN][1000 genomes]
rs72759313	1.00[ASN][1000 genomes]
rs72759314	1.00[ASN][1000 genomes]
rs72759388	1.00[ASN][1000 genomes]
rs72759389	1.00[ASN][1000 genomes]
rs72759390	1.00[ASN][1000 genomes]
rs72759397	1.00[ASN][1000 genomes]
rs72759399	1.00[ASN][1000 genomes]
rs72761303	1.00[ASN][1000 genomes]
rs72761304	1.00[ASN][1000 genomes]
rs72761312	1.00[ASN][1000 genomes]
rs72761339	1.00[ASN][1000 genomes]
rs72763106	1.00[ASN][1000 genomes]
rs72763114	1.00[ASN][1000 genomes]
rs72763115	1.00[ASN][1000 genomes]
rs72763116	1.00[ASN][1000 genomes]
rs72763118	1.00[ASN][1000 genomes]
rs72763119	1.00[ASN][1000 genomes]
rs72763127	1.00[ASN][1000 genomes]
rs72763129	1.00[ASN][1000 genomes]
rs72763130	1.00[ASN][1000 genomes]
rs72763131	1.00[ASN][1000 genomes]
rs72763132	1.00[ASN][1000 genomes]
rs72763133	1.00[ASN][1000 genomes]
rs72763135	1.00[ASN][1000 genomes]
rs72763156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72763157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737026	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1032504	chr5:52908394-53398435	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537763	chr5:52908394-53398435	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv533778	chr5:53092696-53284566	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv880713	chr5:53198059-53906103	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv830299	chr5:53207020-53386600	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv598175	chr5:53213945-53230760	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv880272	chr5:53213945-53277266	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53187600-53232800	Weak transcription	Primary T cells from cord blood	blood
2	chr5:53200800-53251600	Weak transcription	Primary B cells from cord blood	blood
3	chr5:53206800-53236600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:53213800-53235200	Weak transcription	Fetal Intestine Small	intestine
5	chr5:53214000-53238600	Weak transcription	K562	blood
6	chr5:53217200-53244800	Weak transcription	Pancreas	Pancrea
7	chr5:53220600-53251600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:53224200-53232400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:53224800-53231000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:53224800-53231200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:53224800-53231200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:53224800-53232200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:53224800-53232400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:53224800-53238800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:53225200-53231200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:53225600-53231200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:53225800-53236600	Weak transcription	Lung	lung
18	chr5:53226200-53235800	Weak transcription	Fetal Intestine Large	intestine
19	chr5:53226800-53251200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr5:53228800-53232000	Weak transcription	Adipose Nuclei	Adipose
21	chr5:53229600-53233000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:53230000-53230800	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:53230000-53230800	Enhancers	HSMMtube	muscle
24	chr5:53230000-53231000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:53230000-53231000	Enhancers	Fetal Stomach	stomach
26	chr5:53230000-53231400	Enhancers	Fetal Heart	heart
27	chr5:53230000-53231400	Enhancers	Fetal Kidney	kidney
28	chr5:53230000-53231600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:53230000-53234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:53230200-53230800	Enhancers	NHLF	lung
31	chr5:53230200-53231200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:53230200-53231200	Enhancers	Brain Hippocampus Middle	brain
33	chr5:53230200-53231400	Enhancers	Brain Anterior Caudate	brain
34	chr5:53230200-53231400	Enhancers	Fetal Lung	lung
35	chr5:53230200-53231400	Enhancers	NHEK	skin
36	chr5:53230200-53232000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:53230400-53231000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:53230400-53231400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr5:53230400-53232400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:53230400-53241200	Weak transcription	Fetal Brain Male	brain
41	chr5:53230600-53230800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:53230600-53230800	Enhancers	NHDF-Ad	bronchial
43	chr5:53230600-53231400	Enhancers	HMEC	breast
44	chr5:53230600-53231600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:53230600-53232000	Weak transcription	Osteobl	bone
46	chr5:53230600-53233600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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