Variant report

Variant	rs12294799
Chromosome Location	chr11:3916274-3916275
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	ZNF384	chr11:3916187-3916292	GM12878	blood:	n/a	n/a
2	NR3C1	chr11:3916235-3916593	A549	lung:	n/a	chr11:3916381-3916407 chr11:3916383-3916404 chr11:3916381-3916407 chr11:3916386-3916402 chr11:3916387-3916401 chr11:3916386-3916402 chr11:3916386-3916402 chr11:3916381-3916407
3	NR3C1	chr11:3916261-3916631	A549	lung:	n/a	chr11:3916381-3916407 chr11:3916383-3916404 chr11:3916381-3916407 chr11:3916386-3916402 chr11:3916387-3916401 chr11:3916386-3916402 chr11:3916386-3916402 chr11:3916381-3916407
4	NR3C1	chr11:3916217-3916526	A549	lung:	n/a	chr11:3916381-3916407 chr11:3916383-3916404 chr11:3916381-3916407 chr11:3916386-3916402 chr11:3916387-3916401 chr11:3916386-3916402 chr11:3916386-3916402 chr11:3916381-3916407
5	FOXA2	chr11:3916159-3916599	A549	lung:	n/a	n/a
6	NR3C1	chr11:3916091-3916649	A549	lung:	n/a	chr11:3916381-3916407 chr11:3916383-3916404 chr11:3916381-3916407 chr11:3916386-3916402 chr11:3916387-3916401 chr11:3916386-3916402 chr11:3916386-3916402 chr11:3916381-3916407
7	NR3C1	chr11:3916184-3916642	A549	lung:	n/a	chr11:3916381-3916407 chr11:3916383-3916404 chr11:3916381-3916407 chr11:3916386-3916402 chr11:3916387-3916401 chr11:3916386-3916402 chr11:3916386-3916402 chr11:3916381-3916407
8	ESRRA	chr11:3914109-3916888	GM12878	blood:	n/a	chr11:3914726-3914736 chr11:3916295-3916307 chr11:3914722-3914738 chr11:3914726-3914738 chr11:3915715-3915725 chr11:3916290-3916306 chr11:3914726-3914736 chr11:3915715-3915727 chr11:3916409-3916422
9	NR3C1	chr11:3916167-3916583	A549	lung:	n/a	chr11:3916381-3916407 chr11:3916383-3916404 chr11:3916381-3916407 chr11:3916386-3916402 chr11:3916387-3916401 chr11:3916386-3916402 chr11:3916386-3916402 chr11:3916381-3916407
10	FOXA1	chr11:3916228-3916657	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3906966..3908700-chr11:3915127..3916837,2	MCF-7	breast:
2	chr11:3898534..3901352-chr11:3914445..3916336,2	K562	blood:
3	chr11:3912079..3914672-chr11:3914828..3918304,3	K562	blood:

Variant related genes	Relation type
ENSG00000230593	TF binding region
ENSG00000230593	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12271076	1.00[AMR][1000 genomes]
rs12271807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294167	1.00[AMR][1000 genomes]
rs4910710	1.00[ASN][1000 genomes]
rs74050943	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' 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	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1051580	chr11:3856201-3924216	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1043265	chr11:3856201-3926407	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
10	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv1051904	chr11:3903226-3939186	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv1050077	chr11:3903226-3940726	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1043039	chr11:3903226-3955159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3899200-3926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:3902200-3916400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:3902200-3916400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:3902400-3916400	Weak transcription	Fetal Intestine Small	intestine
5	chr11:3902400-3923800	Weak transcription	Gastric	stomach
6	chr11:3907400-3923600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:3907600-3922600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:3911200-3916800	Enhancers	Dnd41	blood
9	chr11:3911400-3916400	Weak transcription	Fetal Lung	lung
10	chr11:3912600-3916800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr11:3913000-3916800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr11:3913000-3916800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:3913000-3916800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:3913400-3918800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:3913600-3916600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr11:3913800-3917000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr11:3913800-3917800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:3914000-3916600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:3914000-3916600	Enhancers	Placenta	Placenta
20	chr11:3914000-3918000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr11:3914200-3916400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:3914200-3916600	Enhancers	Primary hematopoietic stem cells	blood
23	chr11:3914200-3916600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr11:3914200-3917000	Enhancers	Liver	Liver
25	chr11:3914400-3916600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr11:3914400-3916600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:3914400-3916800	Enhancers	A549	lung
28	chr11:3914400-3916800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr11:3914600-3916600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:3914600-3916600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:3914600-3916600	Enhancers	Fetal Thymus	thymus
32	chr11:3914600-3916600	Enhancers	Pancreas	Pancrea
33	chr11:3914600-3916600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr11:3914600-3916600	Enhancers	NHDF-Ad	bronchial
35	chr11:3914600-3916600	Enhancers	Osteobl	bone
36	chr11:3914800-3916600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr11:3914800-3916800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr11:3915000-3916600	Enhancers	Adipose Nuclei	Adipose
39	chr11:3915000-3916600	Enhancers	Fetal Muscle Leg	muscle
40	chr11:3915200-3916600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:3915200-3916600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:3915200-3916600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr11:3915200-3916600	Enhancers	Esophagus	oesophagus
44	chr11:3915200-3916600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr11:3915200-3916600	Enhancers	Right Atrium	heart
46	chr11:3915200-3916600	Enhancers	Stomach Mucosa	stomach
47	chr11:3915200-3916600	Enhancers	HUVEC	blood vessel
48	chr11:3915200-3916800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:3915200-3916800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr11:3915200-3916800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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