Variant report

Variant	rs10068809
Chromosome Location	chr5:58420346-58420347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58401293..58403478-chr5:58419519..58421802,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10044159	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6886791	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9968728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10068809	MIER3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58408400-58422600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr5:58411200-58422800	Weak transcription	Right Ventricle	heart
3	chr5:58414600-58421200	Weak transcription	Left Ventricle	heart
4	chr5:58414600-58422600	Weak transcription	Fetal Intestine Large	intestine
5	chr5:58414800-58422800	Weak transcription	Stomach Mucosa	stomach
6	chr5:58418200-58421200	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr5:58418200-58421200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:58418200-58422800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr5:58418400-58420800	Flanking Active TSS	A549	lung
10	chr5:58418400-58421200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:58418600-58420600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr5:58418600-58422800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr5:58418600-58422800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr5:58418600-58423000	Enhancers	Primary hematopoietic stem cells	blood
15	chr5:58418600-58424800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:58418800-58420400	Enhancers	Stomach Smooth Muscle	stomach
17	chr5:58418800-58420600	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr5:58418800-58420600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr5:58418800-58422600	Enhancers	Fetal Heart	heart
20	chr5:58418800-58422800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:58418800-58422800	Enhancers	Fetal Thymus	thymus
22	chr5:58419000-58420400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:58419000-58421000	Weak transcription	GM12878-XiMat	blood
24	chr5:58419000-58423000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr5:58419200-58420400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr5:58419200-58423000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:58419400-58420400	Enhancers	HSMM	muscle
28	chr5:58419400-58420600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:58419400-58420600	Enhancers	Fetal Stomach	stomach
30	chr5:58419400-58422000	Enhancers	Fetal Lung	lung
31	chr5:58419400-58422400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:58419400-58422400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:58419400-58422800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:58419400-58423200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:58419600-58420400	Enhancers	Small Intestine	intestine
36	chr5:58419600-58420600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:58419600-58420600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr5:58419600-58420600	Enhancers	Fetal Muscle Leg	muscle
39	chr5:58419600-58420600	Enhancers	Psoas Muscle	Psoas
40	chr5:58419600-58420600	Enhancers	Thymus	Thymus
41	chr5:58419600-58420800	Enhancers	Fetal Kidney	kidney
42	chr5:58419600-58421000	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr5:58419600-58421000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:58419600-58421200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr5:58419600-58421600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:58419600-58421800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:58419600-58422400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:58419600-58422400	Enhancers	Duodenum Mucosa	Duodenum
49	chr5:58419600-58422800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:58419600-58422800	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links