Variant report

Variant	rs11065388
Chromosome Location	chr12:121437802-121437803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121435867..121439071-chr12:121444779..121447612,3	K562	blood:
2	chr12:121429573..121435133-chr12:121436242..121441204,7	K562	blood:
3	chr12:121148056..121150871-chr12:121436598..121439075,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135100	Chromatin interaction
ENSG00000175970	Chromatin interaction
ENSG00000157895	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10849827	0.93[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs10849833	0.82[CHB][hapmap]
rs11065386	0.93[CHB][hapmap];0.88[CHD][hapmap];0.89[ASN][1000 genomes]
rs11065390	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11065394	0.98[ASN][1000 genomes]
rs12231806	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12296113	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12309537	0.96[ASN][1000 genomes]
rs2071190	0.93[CHB][hapmap];0.82[JPT][hapmap];0.97[ASN][1000 genomes]
rs3213546	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs3751150	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3751151	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs56097722	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7134141	1.00[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs7296897	0.93[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7969063	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11065388	COQ5	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121418600-121441000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:121418800-121439400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:121419600-121441000	Weak transcription	Small Intestine	intestine
4	chr12:121426200-121440200	Strong transcription	HepG2	liver
5	chr12:121427600-121442600	Strong transcription	Fetal Intestine Large	intestine
6	chr12:121427800-121441200	Strong transcription	Fetal Intestine Small	intestine
7	chr12:121429800-121442000	Strong transcription	Duodenum Mucosa	Duodenum
8	chr12:121429800-121451600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr12:121431200-121439200	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr12:121431200-121440600	Weak transcription	Fetal Lung	lung
11	chr12:121432600-121441200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:121433200-121448200	Weak transcription	Fetal Kidney	kidney
13	chr12:121433600-121440600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:121435000-121438000	Genic enhancers	Liver	Liver
15	chr12:121435400-121438400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:121435400-121438800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:121435400-121441200	Weak transcription	HSMM	muscle
18	chr12:121435600-121438600	Weak transcription	Colonic Mucosa	Colon
19	chr12:121435600-121439400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:121436000-121441200	Weak transcription	NHEK	skin
21	chr12:121436200-121438000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:121436200-121439000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:121436400-121438600	Weak transcription	Primary T cells from cord blood	blood
24	chr12:121436400-121438800	Weak transcription	Fetal Brain Female	brain
25	chr12:121436400-121439400	Weak transcription	NHLF	lung
26	chr12:121436400-121441200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:121436600-121438600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:121436600-121440800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:121436600-121452800	Weak transcription	Fetal Heart	heart
30	chr12:121436800-121438800	Enhancers	Gastric	stomach
31	chr12:121436800-121439000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:121436800-121439200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:121436800-121441000	Weak transcription	Brain Angular Gyrus	brain
34	chr12:121436800-121441000	Weak transcription	HSMMtube	muscle
35	chr12:121436800-121442000	Weak transcription	GM12878-XiMat	blood
36	chr12:121436800-121442400	Weak transcription	Hela-S3	cervix
37	chr12:121437000-121438400	Enhancers	Fetal Muscle Leg	muscle
38	chr12:121437000-121438600	Weak transcription	Spleen	Spleen
39	chr12:121437000-121438800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:121437000-121440000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:121437000-121441000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:121437200-121438200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:121437200-121438600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr12:121437200-121438800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:121437200-121439000	Weak transcription	Brain Germinal Matrix	brain
46	chr12:121437200-121439000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:121437200-121439600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:121437200-121439600	Enhancers	Stomach Mucosa	stomach
49	chr12:121437200-121441000	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:121437200-121441200	Weak transcription	Muscle Satellite Cultured Cells	--

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