Variant report

Variant	rs11227671
Chromosome Location	chr11:66828169-66828170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:66786143..66803039-chr11:66815769..66832347,160	MCF-7	breast:
2	chr11:66786222..66802522-chr11:66819452..66831805,83	MCF-7	breast:
3	chr11:66827365..66829183-chr11:66836201..66838843,2	K562	blood:
4	chr11:66743582..66746541-chr11:66827594..66829913,2	MCF-7	breast:
5	chr11:66761490..66778711-chr11:66821814..66832221,36	MCF-7	breast:
6	chr11:66822610..66825104-chr11:66825846..66828264,2	K562	blood:
7	chr11:66755492..66757024-chr11:66826959..66829610,2	MCF-7	breast:
8	chr11:66826862..66831574-chr11:66885038..66887817,5	MCF-7	breast:
9	chr11:66827343..66828491-chr11:66838896..66840409,4	MCF-7	breast:
10	chr11:66827940..66829622-chr11:66832632..66835357,2	K562	blood:
11	chr11:66822610..66825613-chr11:66825846..66829132,3	K562	blood:
12	chr11:66621391..66624288-chr11:66828096..66830309,2	MCF-7	breast:
13	chr11:66826694..66828199-chr2:131791679..131793747,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000252709	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000136002	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11227678	0.82[JPT][hapmap]
rs11227696	0.87[AMR][1000 genomes]
rs11227718	0.87[AMR][1000 genomes]
rs11227720	0.87[AMR][1000 genomes]
rs11227722	0.87[AMR][1000 genomes]
rs11227761	0.87[AMR][1000 genomes]
rs11227765	0.87[AMR][1000 genomes]
rs11227770	0.87[AMR][1000 genomes]
rs12223898	0.87[AMR][1000 genomes]
rs12224756	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892143	0.87[AMR][1000 genomes]
rs56132056	0.87[AMR][1000 genomes]
rs59589410	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61758503	0.87[AMR][1000 genomes]
rs61891305	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891340	0.87[AMR][1000 genomes]
rs61891343	0.87[AMR][1000 genomes]
rs7127431	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
3	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66825000-66828400	Enhancers	Left Ventricle	heart
2	chr11:66825000-66829600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66825200-66832000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:66825200-66838800	Weak transcription	Spleen	Spleen
5	chr11:66825200-66841400	Weak transcription	Aorta	Aorta
6	chr11:66825200-66849200	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:66825400-66828600	Enhancers	Liver	Liver
8	chr11:66825400-66828800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:66825400-66833200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:66825400-66833800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:66825400-66838800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:66825400-66839000	Weak transcription	Lung	lung
13	chr11:66825400-66839000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:66825400-66839200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:66825400-66849400	Weak transcription	Ovary	ovary
16	chr11:66825600-66828400	Enhancers	Placenta	Placenta
17	chr11:66825800-66831400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:66826000-66828200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr11:66826000-66828400	Enhancers	Right Atrium	heart
20	chr11:66826000-66828400	Enhancers	Right Ventricle	heart
21	chr11:66826000-66828600	Strong transcription	Fetal Stomach	stomach
22	chr11:66826200-66829600	Weak transcription	Stomach Mucosa	stomach
23	chr11:66826600-66829600	Weak transcription	Gastric	stomach
24	chr11:66826600-66839000	Weak transcription	Fetal Intestine Large	intestine
25	chr11:66826800-66831800	Weak transcription	Fetal Heart	heart
26	chr11:66827000-66828400	Enhancers	Hela-S3	cervix
27	chr11:66827200-66828400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:66827200-66828600	Genic enhancers	NHEK	skin
29	chr11:66827400-66828200	Weak transcription	Esophagus	oesophagus
30	chr11:66827400-66828400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:66827400-66829800	Strong transcription	Fetal Intestine Small	intestine
32	chr11:66827400-66831800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:66827600-66828200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:66827600-66828400	Genic enhancers	Pancreas	Pancrea
35	chr11:66827600-66828600	Genic enhancers	HMEC	breast
36	chr11:66827600-66829400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:66827600-66841800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:66827800-66828400	Enhancers	A549	lung
39	chr11:66827800-66829000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:66827800-66829800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:66828000-66828200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:66828000-66828200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:66828000-66828400	Enhancers	HepG2	liver
44	chr11:66828000-66829800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:66828000-66834000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:66828000-66839000	Weak transcription	NH-A	brain
47	chr11:66828000-66845600	Weak transcription	Osteobl	bone

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