Variant report

Variant	rs16927100
Chromosome Location	chr11:35233615-35233616
allele	A/C
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	chr11:35232017-35233936	U87	brain:	n/a	n/a
2	POLR2A	chr11:35233513-35234015	HL-60	blood:	n/a	n/a
3	SPI1	chr11:35233491-35233939	HL-60	blood:	n/a	chr11:35233692-35233705
4	POLR2A	chr11:35220350-35237256	U87	brain:	n/a	n/a
5	SPI1	chr11:35233560-35233857	GM12891	blood:	n/a	chr11:35233692-35233705
6	SPI1	chr11:35233553-35233853	GM12878	blood:	n/a	chr11:35233692-35233705
7	SPI1	chr11:35233433-35234010	HL-60	blood:	n/a	chr11:35233692-35233705
8	POLR2A	chr11:35220356-35243977	U87	brain:	n/a	n/a
9	POLR2A	chr11:35231974-35233776	U87	brain:	n/a	n/a
10	SPI1	chr11:35233509-35233872	GM12891	blood:	n/a	chr11:35233692-35233705
11	POLR2A	chr11:35233605-35234216	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
ENSG00000251194	TF binding region
CD44	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10488811	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280375	0.92[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3847610	1.00[AMR][1000 genomes]
rs3847611	1.00[AMR][1000 genomes]
rs57427719	1.00[AMR][1000 genomes]
rs61045842	1.00[AMR][1000 genomes]
rs61142335	1.00[AMR][1000 genomes]
rs6484779	1.00[AMR][1000 genomes]
rs6484780	1.00[AMR][1000 genomes]
rs6484782	1.00[AMR][1000 genomes]
rs6484783	1.00[AMR][1000 genomes]
rs7102654	1.00[AMR][1000 genomes]
rs7103913	1.00[AMR][1000 genomes]
rs7114260	1.00[AMR][1000 genomes]
rs7121622	1.00[AMR][1000 genomes]
rs7130549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7131062	1.00[AMR][1000 genomes]
rs724474	1.00[AMR][1000 genomes]
rs73436972	1.00[AMR][1000 genomes]
rs73436976	1.00[AMR][1000 genomes]
rs73439121	1.00[AMR][1000 genomes]
rs73439149	1.00[AMR][1000 genomes]
rs7926777	1.00[AMR][1000 genomes]
rs7926910	1.00[AMR][1000 genomes]
rs7927023	1.00[AMR][1000 genomes]
rs7927263	1.00[AMR][1000 genomes]
rs7934506	1.00[AMR][1000 genomes]
rs7936164	1.00[AMR][1000 genomes]
rs7939095	1.00[AMR][1000 genomes]
rs7939877	1.00[AMR][1000 genomes]
rs7939959	1.00[AMR][1000 genomes]
rs7940317	1.00[AMR][1000 genomes]
rs7945276	1.00[AMR][1000 genomes]
rs7949171	1.00[AMR][1000 genomes]
rs7952042	1.00[AMR][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

No data

Chromatin state (count:92 , 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	chr11:35202600-35234000	Strong transcription	HMEC	breast
3	chr11:35202600-35234000	Strong transcription	HSMM	muscle
4	chr11:35202600-35234800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:35204600-35235200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:35209000-35234800	Strong transcription	NHEK	skin
7	chr11:35212400-35236400	Weak transcription	HSMMtube	muscle
8	chr11:35213200-35234000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:35214200-35238400	Weak transcription	Gastric	stomach
10	chr11:35214200-35240800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:35214600-35235200	Weak transcription	HUVEC	blood vessel
12	chr11:35214600-35250600	Weak transcription	Fetal Intestine Large	intestine
13	chr11:35214800-35236000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:35215600-35234600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:35215600-35241200	Weak transcription	Small Intestine	intestine
16	chr11:35216200-35234000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr11:35222600-35240600	Weak transcription	Spleen	Spleen
18	chr11:35222800-35236400	Weak transcription	Psoas Muscle	Psoas
19	chr11:35223000-35236600	Weak transcription	Placenta	Placenta
20	chr11:35223400-35234600	Weak transcription	Fetal Stomach	stomach
21	chr11:35223400-35235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:35223400-35238400	Weak transcription	Esophagus	oesophagus
23	chr11:35224000-35241600	Weak transcription	Left Ventricle	heart
24	chr11:35225400-35234400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:35225600-35234800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:35226000-35234200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr11:35226200-35244800	Weak transcription	Brain Substantia Nigra	brain
28	chr11:35227800-35237600	Weak transcription	Pancreas	Pancrea
29	chr11:35227800-35240400	Weak transcription	Colonic Mucosa	Colon
30	chr11:35228400-35237600	Weak transcription	Thymus	Thymus
31	chr11:35229200-35237600	Weak transcription	Lung	lung
32	chr11:35229400-35235800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:35229800-35235000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:35229800-35237800	Weak transcription	Aorta	Aorta
35	chr11:35230200-35236200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:35230600-35236000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:35230600-35236000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:35230800-35236000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:35231400-35240400	Weak transcription	Fetal Lung	lung
40	chr11:35231600-35243600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:35231800-35233800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:35231800-35234000	Strong transcription	Primary T cells from cord blood	blood
43	chr11:35231800-35234000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:35231800-35234400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:35231800-35235400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:35231800-35236400	Weak transcription	Fetal Thymus	thymus
47	chr11:35231800-35236400	Weak transcription	GM12878-XiMat	blood
48	chr11:35232000-35233800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:35232200-35234000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:35232200-35245400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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