Variant report

Variant	rs11033028
Chromosome Location	chr11:35237412-35237413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:35235854-35244123	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr11:35237394-35239434	U87	brain:	n/a	n/a
3	POLR2A	chr11:35237319-35238663	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:35220356-35243977	U87	brain:	n/a	n/a
5	POLR2A	chr11:35237308-35239908	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr11:35237283-35244142	U87	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000255443	TF binding region
CD44	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10836342	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12285721	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12291116	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2295756	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11033028	CD44	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35200600-35244800	Weak transcription	Fetal Brain Male	brain
2	chr11:35214200-35238400	Weak transcription	Gastric	stomach
3	chr11:35214200-35240800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:35214600-35250600	Weak transcription	Fetal Intestine Large	intestine
5	chr11:35215600-35241200	Weak transcription	Small Intestine	intestine
6	chr11:35222600-35240600	Weak transcription	Spleen	Spleen
7	chr11:35223400-35238400	Weak transcription	Esophagus	oesophagus
8	chr11:35224000-35241600	Weak transcription	Left Ventricle	heart
9	chr11:35226200-35244800	Weak transcription	Brain Substantia Nigra	brain
10	chr11:35227800-35237600	Weak transcription	Pancreas	Pancrea
11	chr11:35227800-35240400	Weak transcription	Colonic Mucosa	Colon
12	chr11:35228400-35237600	Weak transcription	Thymus	Thymus
13	chr11:35229200-35237600	Weak transcription	Lung	lung
14	chr11:35229800-35237800	Weak transcription	Aorta	Aorta
15	chr11:35231400-35240400	Weak transcription	Fetal Lung	lung
16	chr11:35231600-35243600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:35232200-35245400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:35232400-35245600	Genic enhancers	NHDF-Ad	bronchial
19	chr11:35232600-35238000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr11:35232800-35239800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:35232800-35240600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:35233200-35244400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:35233400-35259600	Weak transcription	Liver	Liver
24	chr11:35234000-35239200	Genic enhancers	Primary B cells from cord blood	blood
25	chr11:35234000-35239200	Genic enhancers	HMEC	breast
26	chr11:35234000-35239800	Genic enhancers	Primary T cells from cord blood	blood
27	chr11:35234000-35239800	Genic enhancers	Primary T cells fromperipheralblood	blood
28	chr11:35234000-35239800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr11:35234200-35247400	Weak transcription	Fetal Intestine Small	intestine
30	chr11:35234600-35240200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr11:35234600-35241600	Genic enhancers	NHLF	lung
32	chr11:35234800-35239200	Genic enhancers	NHEK	skin
33	chr11:35234800-35239400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr11:35234800-35240400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr11:35235200-35238800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:35235200-35239400	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr11:35235200-35249200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:35235400-35238400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:35235800-35238400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr11:35235800-35239200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:35235800-35239400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr11:35235800-35244200	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:35236000-35238000	Weak transcription	Right Ventricle	heart
44	chr11:35236000-35238200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr11:35236000-35239200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr11:35236000-35239200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr11:35236000-35239200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr11:35236000-35243000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:35236000-35245200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:35236000-35247600	Strong transcription	Dnd41	blood

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