Variant report

Variant	rs17447755
Chromosome Location	chr11:35235430-35235431
allele	A/G
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	chr11:35234565-35235550	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:35234531-35235738	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr11:35234670-35235556	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:35220350-35237256	U87	brain:	n/a	n/a
5	POLR2A	chr11:35234778-35235593	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:35234952-35235494	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:35235068-35237206	U87	brain:	n/a	n/a
8	POLR2A	chr11:35220356-35243977	U87	brain:	n/a	n/a
9	POLR2A	chr11:35234948-35235519	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:35234511-35235732	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr11:35234720-35235578	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:35235178-35235431	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:35235044-35237218	U87	brain:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDHX-1	chr11:35235151-35235554	ENSG00000251194

Variant related genes	Relation type
CD44	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10836346	0.88[EUR][1000 genomes]
rs2065005	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2065006	1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4755391	1.00[YRI][hapmap]
rs61882763	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61882764	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61882766	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61882767	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61882768	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61882771	0.88[EUR][1000 genomes]
rs61882792	0.84[EUR][1000 genomes]
rs61882793	0.86[EUR][1000 genomes]
rs61882794	0.86[EUR][1000 genomes]
rs61882799	0.86[EUR][1000 genomes]
rs61882800	0.84[EUR][1000 genomes]
rs7930724	1.00[YRI][hapmap]
rs7934770	1.00[YRI][hapmap]

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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35200600-35244800	Weak transcription	Fetal Brain Male	brain
2	chr11:35212400-35236400	Weak transcription	HSMMtube	muscle
3	chr11:35214200-35238400	Weak transcription	Gastric	stomach
4	chr11:35214200-35240800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr11:35214600-35250600	Weak transcription	Fetal Intestine Large	intestine
6	chr11:35214800-35236000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:35215600-35241200	Weak transcription	Small Intestine	intestine
8	chr11:35222600-35240600	Weak transcription	Spleen	Spleen
9	chr11:35222800-35236400	Weak transcription	Psoas Muscle	Psoas
10	chr11:35223000-35236600	Weak transcription	Placenta	Placenta
11	chr11:35223400-35238400	Weak transcription	Esophagus	oesophagus
12	chr11:35224000-35241600	Weak transcription	Left Ventricle	heart
13	chr11:35226200-35244800	Weak transcription	Brain Substantia Nigra	brain
14	chr11:35227800-35237600	Weak transcription	Pancreas	Pancrea
15	chr11:35227800-35240400	Weak transcription	Colonic Mucosa	Colon
16	chr11:35228400-35237600	Weak transcription	Thymus	Thymus
17	chr11:35229200-35237600	Weak transcription	Lung	lung
18	chr11:35229400-35235800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr11:35229800-35237800	Weak transcription	Aorta	Aorta
20	chr11:35230200-35236200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:35230600-35236000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr11:35230600-35236000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:35230800-35236000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:35231400-35240400	Weak transcription	Fetal Lung	lung
25	chr11:35231600-35243600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:35231800-35236400	Weak transcription	Fetal Thymus	thymus
27	chr11:35231800-35236400	Weak transcription	GM12878-XiMat	blood
28	chr11:35232200-35245400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:35232400-35236800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:35232400-35245600	Genic enhancers	NHDF-Ad	bronchial
31	chr11:35232600-35238000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
32	chr11:35232800-35236400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:35232800-35239800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:35232800-35240600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:35233000-35235800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr11:35233000-35235800	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:35233000-35236000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:35233000-35236000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:35233000-35236000	Weak transcription	Dnd41	blood
40	chr11:35233000-35236200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:35233000-35236200	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:35233000-35236400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:35233000-35236400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:35233000-35236600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:35233000-35236600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr11:35233200-35244400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr11:35233400-35259600	Weak transcription	Liver	Liver
48	chr11:35233800-35236200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr11:35234000-35235600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:35234000-35239200	Genic enhancers	Primary B cells from cord blood	blood

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