Variant report

Variant	rs6483262
Chromosome Location	chr11:93438010-93438011
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93437324..93440222-chr11:93470105..93472885,2	K562	blood:
2	chr11:93395504..93399552-chr11:93436710..93441149,5	K562	blood:
3	chr11:93437896..93440222-chr11:93469101..93471605,2	K562	blood:

Variant related genes	Relation type
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10160552	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10765620	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10831089	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10831091	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10831093	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11020484	0.85[CEU][hapmap]
rs1939565	0.90[EUR][1000 genomes]
rs1944104	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4146891	0.85[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.92[EUR][1000 genomes]
rs61229806	0.90[EUR][1000 genomes]
rs6483261	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7105804	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7119996	0.86[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes]
rs7939460	0.89[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes]
rs7950893	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	nsv819292	chr11:93436985-93440060	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6483262	C11orf54	cis	Heart Left Ventricle	GTEx
rs6483262	C11orf54	cis	lung	GTEx
rs6483262	C11orf54	cis	normal skin	skin_eQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93395600-93446800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:93397400-93441400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:93397600-93441000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:93398800-93440800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:93398800-93442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:93398800-93443200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:93399200-93439800	Strong transcription	Dnd41	blood
8	chr11:93399800-93442200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr11:93400400-93443200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:93400400-93445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:93410000-93444000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr11:93410200-93441400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:93411600-93441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:93411600-93442400	Strong transcription	Fetal Intestine Large	intestine
15	chr11:93415600-93438200	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:93415600-93441400	Strong transcription	Liver	Liver
17	chr11:93415800-93442000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr11:93416000-93440400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:93419800-93442400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:93420600-93441200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:93420800-93441400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:93420800-93444000	Strong transcription	Fetal Thymus	thymus
23	chr11:93421600-93442000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:93422600-93440600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:93423600-93442000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr11:93423600-93450200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:93424000-93442600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:93424800-93440400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:93426800-93443200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:93426800-93444600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:93427000-93441400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:93427000-93442600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr11:93427000-93443400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
35	chr11:93427400-93440800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:93427600-93441400	Strong transcription	Adipose Nuclei	Adipose
37	chr11:93428600-93441200	Strong transcription	GM12878-XiMat	blood
38	chr11:93429200-93442000	Strong transcription	Brain Germinal Matrix	brain
39	chr11:93430400-93440000	Weak transcription	Colonic Mucosa	Colon
40	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
41	chr11:93431400-93439600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:93431400-93450400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:93431600-93440600	Weak transcription	Esophagus	oesophagus
44	chr11:93431600-93441400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:93431800-93439200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr11:93431800-93439800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:93431800-93448200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:93432200-93439200	Weak transcription	Pancreas	Pancrea
49	chr11:93432200-93448200	Weak transcription	Spleen	Spleen
50	chr11:93432400-93443000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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