Variant report

Variant	rs60935266
Chromosome Location	chr11:45829172-45829173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45824002..45829445-chr11:45867072..45871709,12	MCF-7	breast:
2	chr11:45827843..45829820-chr11:86147830..86150732,2	MCF-7	breast:
3	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
4	chr11:45828332..45831158-chr11:86511150..86513181,2	MCF-7	breast:
5	chr11:45827056..45829246-chr11:45881136..45883627,2	MCF-7	breast:
6	chr11:45827056..45829827-chr11:45868451..45870593,2	K562	blood:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10838518	0.94[ASN][1000 genomes]
rs16938376	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7127456	0.94[ASN][1000 genomes]
rs73466394	0.81[ASN][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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45827000-45829400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:45827000-45829600	Flanking Active TSS	Fetal Brain Female	brain
3	chr11:45827200-45829200	Flanking Active TSS	GM12878-XiMat	blood
4	chr11:45827200-45829400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:45827200-45829600	Flanking Active TSS	Brain Germinal Matrix	brain
6	chr11:45827200-45829800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:45827400-45829200	Flanking Active TSS	HUVEC	blood vessel
8	chr11:45827400-45829400	Flanking Active TSS	Rectal Smooth Muscle	rectum
9	chr11:45827400-45829400	Flanking Active TSS	NH-A	brain
10	chr11:45827400-45829600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:45827400-45829800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:45827400-45829800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:45827400-45830000	Enhancers	Small Intestine	intestine
14	chr11:45827400-45830200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:45827600-45829200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr11:45827600-45829200	Transcr. at gene 5' and 3'	NHLF	lung
17	chr11:45827600-45829400	Enhancers	Primary B cells from peripheral blood	blood
18	chr11:45827600-45829400	Enhancers	Fetal Thymus	thymus
19	chr11:45827600-45829600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:45827600-45829600	Enhancers	Aorta	Aorta
21	chr11:45827600-45829600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr11:45827600-45829600	Enhancers	Thymus	Thymus
23	chr11:45827600-45830000	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr11:45827600-45831600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:45827800-45829400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:45827800-45829600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:45827800-45829600	Enhancers	Brain Substantia Nigra	brain
28	chr11:45827800-45829600	Genic enhancers	Esophagus	oesophagus
29	chr11:45827800-45829600	Genic enhancers	Fetal Stomach	stomach
30	chr11:45827800-45829600	Enhancers	Right Atrium	heart
31	chr11:45827800-45829600	Flanking Active TSS	HepG2	liver
32	chr11:45827800-45829600	Transcr. at gene 5' and 3'	NHEK	skin
33	chr11:45827800-45829800	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
34	chr11:45827800-45829800	Enhancers	Fetal Heart	heart
35	chr11:45827800-45829800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
36	chr11:45827800-45832400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:45828000-45829200	Enhancers	Left Ventricle	heart
38	chr11:45828000-45829400	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:45828000-45829400	Enhancers	Brain Cingulate Gyrus	brain
40	chr11:45828000-45829600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr11:45828000-45829600	Enhancers	Primary B cells from cord blood	blood
42	chr11:45828000-45829600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:45828000-45829600	Enhancers	Ovary	ovary
44	chr11:45828000-45829600	Enhancers	Psoas Muscle	Psoas
45	chr11:45828000-45829600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr11:45828000-45829600	Transcr. at gene 5' and 3'	Osteobl	bone
47	chr11:45828000-45830000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:45828000-45830400	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:45828000-45830600	Enhancers	Gastric	stomach
50	chr11:45828000-45831000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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