Variant report

Variant	rs3808976
Chromosome Location	chr11:45827350-45827351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45827001..45828781-chr11:46403254..46405047,2	K562	blood:
2	chr11:45824002..45829445-chr11:45867072..45871709,12	MCF-7	breast:
3	chr11:45825804..45827423-chr13:20531319..20533538,2	MCF-7	breast:
4	chr11:45826946..45827805-chr21:40554791..40555334,2	Hela-S3	cervix:
5	chr11:45825531..45829159-chr11:45866510..45869041,3	K562	blood:
6	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
7	chr11:45826717..45827615-chr6:7910502..7911042,2	Hela-S3	cervix:
8	chr11:45823993..45827958-chr11:86511064..86514676,4	MCF-7	breast:
9	chr11:45827056..45829246-chr11:45881136..45883627,2	MCF-7	breast:
10	chr11:45827056..45829827-chr11:45868451..45870593,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000121671	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000121741	Chromatin interaction
ENSG00000150687	Chromatin interaction
ENSG00000110492	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11038646	0.94[CHD][hapmap]
rs11038647	0.87[ASN][1000 genomes]
rs11038662	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12289963	0.83[AFR][1000 genomes]
rs12295599	0.94[CHD][hapmap]
rs12790201	0.92[ASN][1000 genomes]
rs12802077	0.92[ASN][1000 genomes]
rs12805705	0.91[ASN][1000 genomes]
rs1530634	0.94[CHD][hapmap];0.85[GIH][hapmap]
rs2666922	0.93[CHD][hapmap]
rs34571612	0.92[ASN][1000 genomes]
rs34764250	0.94[ASN][1000 genomes]
rs35624205	0.92[ASN][1000 genomes]
rs35730296	0.94[ASN][1000 genomes]
rs35882101	0.91[ASN][1000 genomes]
rs3740704	0.94[CHD][hapmap];0.82[ASN][1000 genomes]
rs4589265	0.91[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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3808976	PEX16	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45825200-45827600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:45825200-45827600	Active TSS	Fetal Kidney	kidney
3	chr11:45825400-45827400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:45825400-45827400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:45825400-45827400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:45825400-45827400	Active TSS	Aorta	Aorta
7	chr11:45825400-45827400	Active TSS	Left Ventricle	heart
8	chr11:45825400-45827400	Active TSS	Ovary	ovary
9	chr11:45825400-45827400	Active TSS	Psoas Muscle	Psoas
10	chr11:45825400-45827400	Active TSS	Small Intestine	intestine
11	chr11:45825400-45827400	Active TSS	HSMMtube	muscle
12	chr11:45825400-45827400	Active TSS	NHLF	lung
13	chr11:45825400-45827600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:45825400-45827600	Bivalent/Poised TSS	HepG2	liver
15	chr11:45825400-45827800	Active TSS	A549	lung
16	chr11:45825400-45828600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:45825600-45827400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr11:45825600-45827400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:45825600-45827400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr11:45825600-45827400	Active TSS	Fetal Intestine Large	intestine
21	chr11:45825600-45827400	Active TSS	Fetal Intestine Small	intestine
22	chr11:45825600-45827400	Active TSS	Gastric	stomach
23	chr11:45825600-45827400	Active TSS	NHDF-Ad	bronchial
24	chr11:45825600-45827400	Active TSS	Osteobl	bone
25	chr11:45825600-45827600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:45825600-45827800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr11:45825800-45827400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:45826000-45827400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:45826000-45827400	Active TSS	K562	blood
30	chr11:45826200-45827400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:45826200-45827400	Active TSS	NH-A	brain
32	chr11:45826200-45827600	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr11:45826200-45828200	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr11:45826400-45827400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:45826400-45827400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr11:45826400-45827400	Active TSS	HUVEC	blood vessel
37	chr11:45826800-45827400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:45826800-45828000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr11:45827000-45827400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr11:45827000-45827400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:45827000-45827600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:45827000-45827600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr11:45827000-45827600	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr11:45827000-45827600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:45827000-45827600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr11:45827000-45827600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:45827000-45827600	Flanking Active TSS	Fetal Stomach	stomach
48	chr11:45827000-45827600	Flanking Active TSS	Fetal Thymus	thymus
49	chr11:45827000-45827800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:45827000-45827800	Flanking Active TSS	Adipose Nuclei	Adipose

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