Variant report

Variant	rs548066723
Chromosome Location	chr11:47939750-47939751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47938982..47939751-chr12:57482295..57483273,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000166886	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	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/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv825876	chr11:47939505-47941020	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47925600-47943200	Enhancers	Placenta	Placenta
2	chr11:47927200-47942800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:47934000-47946600	Enhancers	Primary B cells from cord blood	blood
4	chr11:47934400-47947200	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:47935400-47944600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:47935600-47941200	Enhancers	HUVEC	blood vessel
7	chr11:47936400-47941200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:47936600-47941800	Enhancers	Fetal Thymus	thymus
9	chr11:47936800-47940200	Enhancers	Fetal Intestine Small	intestine
10	chr11:47936800-47940400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:47936800-47940600	Enhancers	Fetal Muscle Leg	muscle
12	chr11:47936800-47941000	Enhancers	Spleen	Spleen
13	chr11:47937000-47940200	Enhancers	Fetal Brain Male	brain
14	chr11:47937000-47940200	Enhancers	Lung	lung
15	chr11:47937000-47941200	Enhancers	Pancreas	Pancrea
16	chr11:47937000-47941400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:47937200-47940800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr11:47937200-47941200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:47937400-47942000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:47937400-47949800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:47937600-47940400	Enhancers	Stomach Mucosa	stomach
22	chr11:47937600-47940800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:47937600-47941200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:47937800-47940000	Enhancers	Colon Smooth Muscle	Colon
25	chr11:47937800-47941400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:47938000-47940200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:47938200-47940400	Weak transcription	Colonic Mucosa	Colon
28	chr11:47938400-47939800	Weak transcription	Right Ventricle	heart
29	chr11:47938400-47945600	Weak transcription	Left Ventricle	heart
30	chr11:47938800-47940200	Enhancers	Brain Cingulate Gyrus	brain
31	chr11:47938800-47940200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr11:47938800-47941200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:47938800-47943200	Enhancers	Dnd41	blood
34	chr11:47939000-47940000	Enhancers	Brain Hippocampus Middle	brain
35	chr11:47939000-47940000	Enhancers	Right Atrium	heart
36	chr11:47939000-47941000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:47939000-47941400	Flanking Active TSS	Hela-S3	cervix
38	chr11:47939000-47943200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:47939000-47943600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:47939200-47939800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:47939200-47939800	Enhancers	Brain Angular Gyrus	brain
42	chr11:47939200-47940000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:47939200-47940000	Enhancers	NHEK	skin
44	chr11:47939200-47943000	Enhancers	Primary hematopoietic stem cells	blood
45	chr11:47939200-47943000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr11:47939200-47944600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr11:47939400-47940000	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr11:47939400-47940200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:47939400-47940200	Flanking Active TSS	K562	blood
50	chr11:47939400-47940200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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