Variant report

Variant	rs12226869
Chromosome Location	chr11:47280220-47280221
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr11:47280191-47280365	K562	blood:	n/a	n/a
2	RCOR1	chr11:47279949-47280361	K562	blood:	n/a	n/a
3	NR2F2	chr11:47279433-47280465	K562	blood:	n/a	n/a
4	TCF7L2	chr11:47280031-47280279	Hela-S3	cervix:	n/a	n/a
5	MAX	chr11:47279913-47280425	K562	blood:	n/a	n/a
6	ZNF143	chr11:47280051-47280251	K562	blood:	n/a	n/a
7	BHLHE40	chr11:47279903-47280304	K562	blood:	n/a	n/a
8	TAL1	chr11:47280213-47280343	K562	blood:	n/a	n/a
9	CTCF	chr11:47278588-47281976	A549	lung:	n/a	chr11:47278969-47278982
10	RCOR1	chr11:47280100-47280323	K562	blood:	n/a	n/a
11	HCFC1	chr11:47278486-47281950	Hela-S3	cervix:	n/a	n/a
12	CBX3	chr11:47279830-47280335	K562	blood:	n/a	n/a
13	CTCF	chr11:47279417-47280237	K562	blood:	n/a	n/a
14	CTCF	chr11:47280180-47280330	BJ	skin:	n/a	n/a
15	CTCF	chr11:47280080-47280230	HPAF	blood vessel:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47197631..47199665-chr11:47279516..47282212,2	K562	blood:
2	chr11:47206745..47208837-chr11:47280102..47282885,2	K562	blood:
3	chr11:47196892..47202921-chr11:47278417..47285951,9	MCF-7	breast:
4	chr11:47279843..47284326-chr11:47288675..47293634,16	MCF-7	breast:
5	chr11:47265054..47272453-chr11:47272862..47282933,17	MCF-7	breast:
6	chr11:47205592..47209017-chr11:47278399..47281373,5	MCF-7	breast:
7	chr11:47268496..47273681-chr11:47277782..47283365,10	K562	blood:
8	chr11:47277979..47283267-chr11:47289057..47293509,9	K562	blood:
9	chr11:47267134..47271941-chr11:47277592..47282899,11	MCF-7	breast:

No data

Variant related genes	Relation type
NR1H3	TF binding region
ENSG00000110514	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000134575	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000025434	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11039095	1.00[AFR][1000 genomes]
rs11039099	1.00[AFR][1000 genomes]
rs11039103	1.00[AFR][1000 genomes]
rs11039104	1.00[AFR][1000 genomes]
rs11039128	1.00[AFR][1000 genomes]
rs11039169	1.00[AFR][1000 genomes]
rs11039179	1.00[AFR][1000 genomes]
rs11039180	1.00[AFR][1000 genomes]
rs11039214	1.00[AFR][1000 genomes]
rs11039252	1.00[AFR][1000 genomes]
rs12226522	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4647752	1.00[AFR][1000 genomes]
rs7125350	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47271000-47280800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47271400-47281000	Weak transcription	Thymus	Thymus
3	chr11:47271400-47281200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr11:47271400-47281200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:47271400-47281200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:47271400-47281200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:47272400-47286400	Weak transcription	Dnd41	blood
8	chr11:47275800-47286800	Weak transcription	Primary T cells from cord blood	blood
9	chr11:47276800-47280800	Weak transcription	HSMMtube	muscle
10	chr11:47277000-47282000	Weak transcription	Spleen	Spleen
11	chr11:47278600-47280400	Enhancers	Small Intestine	intestine
12	chr11:47278600-47281600	Enhancers	Fetal Heart	heart
13	chr11:47278600-47282000	Flanking Active TSS	Hela-S3	cervix
14	chr11:47278800-47281000	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr11:47278800-47281600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:47278800-47281600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:47278800-47282000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:47278800-47282200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:47278800-47282200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr11:47279000-47280400	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr11:47279000-47280400	Flanking Active TSS	Fetal Stomach	stomach
22	chr11:47279000-47280400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr11:47279000-47281600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr11:47279000-47281600	Enhancers	NH-A	brain
25	chr11:47279200-47280400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:47279200-47280600	Active TSS	Fetal Kidney	kidney
27	chr11:47279200-47288800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:47279400-47280400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:47279400-47280400	Flanking Active TSS	Fetal Lung	lung
30	chr11:47279400-47280400	Active TSS	Right Atrium	heart
31	chr11:47279400-47280800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:47279400-47280800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:47279400-47281200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:47279400-47281600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr11:47279400-47286800	Weak transcription	NHEK	skin
36	chr11:47279400-47289400	Weak transcription	Fetal Brain Female	brain
37	chr11:47279600-47280600	Flanking Active TSS	Liver	Liver
38	chr11:47279600-47281400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:47279800-47280400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:47279800-47280600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:47279800-47280800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:47279800-47280800	Weak transcription	Gastric	stomach
43	chr11:47279800-47281000	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr11:47279800-47281000	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr11:47279800-47281200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:47279800-47281200	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr11:47279800-47281600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:47279800-47287000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:47279800-47289800	Weak transcription	Esophagus	oesophagus
50	chr11:47280000-47280400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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