Variant report

Variant	rs4881353
Chromosome Location	chr10:4876626-4876627
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:4874323..4877569-chr10:4879999..4883471,5	K562	blood:

Variant related genes	Relation type
ENSG00000165568	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10795202	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10795206	0.92[EUR][1000 genomes]
rs10795207	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs10795208	0.91[CEU][hapmap];0.86[YRI][hapmap];0.91[EUR][1000 genomes]
rs10904351	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10904353	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10904357	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10904365	0.89[EUR][1000 genomes]
rs11252763	0.91[ASN][1000 genomes]
rs11252775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11252808	0.90[EUR][1000 genomes]
rs12572536	0.92[EUR][1000 genomes]
rs2123350	0.90[ASN][1000 genomes]
rs2123353	0.87[ASN][1000 genomes]
rs2167698	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2167701	0.99[ASN][1000 genomes]
rs2167702	0.94[ASN][1000 genomes]
rs2278870	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2961559	0.83[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs4363494	0.93[GIH][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4880690	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4880691	0.99[ASN][1000 genomes]
rs4881355	0.99[ASN][1000 genomes]
rs7921112	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4881353	AKR1C2	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4868800-4879800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:4869000-4881000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:4869200-4877600	Weak transcription	Pancreas	Pancrea
4	chr10:4869200-4877800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:4869200-4883600	Weak transcription	Thymus	Thymus
6	chr10:4869200-4884800	Weak transcription	Esophagus	oesophagus
7	chr10:4869200-4889200	Weak transcription	NHLF	lung
8	chr10:4869200-4889600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:4869200-4890400	Weak transcription	Right Atrium	heart
10	chr10:4869200-4891600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr10:4869200-4892200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:4869400-4877200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:4869400-4877600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:4869400-4878400	Weak transcription	Placenta	Placenta
15	chr10:4869400-4879000	Weak transcription	Fetal Lung	lung
16	chr10:4869400-4883400	Weak transcription	Colonic Mucosa	Colon
17	chr10:4869400-4886800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:4869400-4889600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:4869400-4889600	Weak transcription	HSMM	muscle
20	chr10:4869400-4891600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr10:4869600-4877000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr10:4869600-4877200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr10:4869600-4877200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:4869600-4877600	Weak transcription	Osteobl	bone
25	chr10:4869600-4878600	Weak transcription	Colon Smooth Muscle	Colon
26	chr10:4869600-4883400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr10:4869600-4885000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:4869600-4889200	Weak transcription	HUVEC	blood vessel
29	chr10:4869600-4889600	Weak transcription	NHEK	skin
30	chr10:4869800-4880600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr10:4869800-4884800	Weak transcription	Right Ventricle	heart
32	chr10:4869800-4885800	Weak transcription	Stomach Mucosa	stomach
33	chr10:4870200-4877000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr10:4870200-4879600	Weak transcription	Fetal Heart	heart
35	chr10:4870600-4886200	Weak transcription	Small Intestine	intestine
36	chr10:4870600-4887800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr10:4870600-4891800	Weak transcription	Fetal Brain Male	brain
38	chr10:4871000-4877600	Weak transcription	K562	blood
39	chr10:4872400-4889200	Weak transcription	NHDF-Ad	bronchial
40	chr10:4872600-4877800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr10:4872600-4889200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr10:4872600-4892400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr10:4872800-4877800	Weak transcription	Fetal Intestine Small	intestine
44	chr10:4872800-4878000	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr10:4872800-4882200	Weak transcription	Liver	Liver
46	chr10:4872800-4886600	Strong transcription	A549	lung
47	chr10:4873000-4880000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr10:4873000-4880200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr10:4873000-4880200	Strong transcription	Aorta	Aorta
50	chr10:4873000-4880600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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