Variant report

Variant	rs547263575
Chromosome Location	chr11:66843290-66843291
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66842897..66845460-chr16:20741423..20744346,2	MCF-7	breast:
2	chr11:66795520..66800243-chr11:66842447..66847308,8	MCF-7	breast:
3	chr11:66836812..66842156-chr11:66842651..66845856,9	MCF-7	breast:
4	chr11:66788209..66792754-chr11:66842062..66847594,9	MCF-7	breast:
5	chr11:66821776..66823454-chr11:66841539..66844484,2	K562	blood:
6	chr11:66843110..66845610-chr11:67055483..67057190,2	K562	blood:

Variant related genes	Relation type
ENSG00000173227	Chromatin interaction
ENSG00000172932	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	esv3470874	chr11:66842691-66845080	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3470885	chr11:66842691-66845080	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66825200-66849200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:66825400-66849400	Weak transcription	Ovary	ovary
3	chr11:66828000-66845600	Weak transcription	Osteobl	bone
4	chr11:66831400-66844600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:66834800-66843400	Weak transcription	Hela-S3	cervix
6	chr11:66839200-66845000	Weak transcription	Gastric	stomach
7	chr11:66839400-66843400	Weak transcription	Fetal Intestine Large	intestine
8	chr11:66839400-66843600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:66839400-66844600	Weak transcription	Stomach Mucosa	stomach
10	chr11:66839400-66844800	Weak transcription	A549	lung
11	chr11:66839400-66845200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:66839400-66845800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:66839400-66849400	Weak transcription	Lung	lung
14	chr11:66839400-66849400	Weak transcription	Right Atrium	heart
15	chr11:66839400-66849400	Weak transcription	Right Ventricle	heart
16	chr11:66839600-66843600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:66839600-66844600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:66839800-66844000	Strong transcription	Placenta	Placenta
19	chr11:66840200-66843400	Weak transcription	Pancreas	Pancrea
20	chr11:66840200-66843600	Weak transcription	Esophagus	oesophagus
21	chr11:66840200-66843600	Weak transcription	Fetal Stomach	stomach
22	chr11:66840200-66844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:66840200-66845800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:66840400-66843800	Weak transcription	HMEC	breast
25	chr11:66840400-66845200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:66840400-66845800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:66841000-66844600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:66841000-66844600	Weak transcription	NHEK	skin
29	chr11:66841000-66844800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:66841200-66843400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:66841200-66843800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:66841800-66845000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:66842200-66843400	Weak transcription	Liver	Liver
34	chr11:66842200-66843600	Weak transcription	Fetal Intestine Small	intestine
35	chr11:66842200-66844000	Weak transcription	K562	blood
36	chr11:66842200-66844600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:66842200-66844800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:66842200-66846000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:66842400-66843400	Weak transcription	GM12878-XiMat	blood
40	chr11:66842400-66844600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:66843200-66843800	Enhancers	HepG2	liver
42	chr11:66843200-66844000	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr11:66843200-66844200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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