Variant report

Variant	rs11076559
Chromosome Location	chr16:48280122-48280123
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:47175994..47177897-chr16:48278487..48280949,2	MCF-7	breast:
2	chr16:48278224..48281613-chr16:48642327..48645557,3	MCF-7	breast:
3	chr16:48264506..48269686-chr16:48276668..48281172,8	MCF-7	breast:
4	chr16:48277878..48279864-chr16:48279870..48282600,2	K562	blood:

Variant related genes	Relation type
ENSG00000171208	Chromatin interaction
ENSG00000102910	Chromatin interaction
ENSG00000121270	Chromatin interaction
ENSG00000102921	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11076560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11554208	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13334798	0.93[EUR][1000 genomes]
rs17744321	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17750580	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17822471	0.82[AMR][1000 genomes]
rs17822697	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17825174	0.89[AMR][1000 genomes]
rs34505973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41282047	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56999468	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57879591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59748923	0.89[AMR][1000 genomes]
rs7194667	0.93[EUR][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	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48277400-48281400	Active TSS	GM12878-XiMat	blood
2	chr16:48277600-48280200	Active TSS	Right Atrium	heart
3	chr16:48277800-48280200	Active TSS	Ovary	ovary
4	chr16:48278000-48280200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:48278000-48280400	Active TSS	NHLF	lung
6	chr16:48278000-48280600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:48278400-48280200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr16:48278600-48280400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr16:48278600-48280400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr16:48278800-48280200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr16:48278800-48280200	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr16:48278800-48280800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:48278800-48281800	Flanking Active TSS	Liver	Liver
14	chr16:48279000-48280400	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr16:48279000-48280400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr16:48279000-48280400	Flanking Active TSS	Dnd41	blood
17	chr16:48279000-48280400	Flanking Active TSS	Osteobl	bone
18	chr16:48279000-48280600	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr16:48279000-48287000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:48279200-48280200	Flanking Active TSS	Hela-S3	cervix
21	chr16:48279200-48280400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr16:48279200-48280400	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr16:48279200-48280400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr16:48279200-48280400	Weak transcription	Esophagus	oesophagus
25	chr16:48279200-48280400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr16:48279200-48280400	Flanking Active TSS	NHEK	skin
27	chr16:48279200-48280600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr16:48279200-48280600	Enhancers	Stomach Mucosa	stomach
29	chr16:48279200-48280600	Flanking Active TSS	HepG2	liver
30	chr16:48279200-48280800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr16:48279200-48281600	Enhancers	Small Intestine	intestine
32	chr16:48279400-48280200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr16:48279400-48280200	Enhancers	Placenta	Placenta
34	chr16:48279400-48280400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:48279400-48280400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr16:48279400-48280800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:48279400-48280800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr16:48279400-48281000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr16:48279400-48281200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr16:48279400-48281600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:48279400-48281800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr16:48279400-48312600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:48279600-48280200	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr16:48279600-48280200	Active TSS	Fetal Brain Female	brain
45	chr16:48279600-48280400	Enhancers	Primary hematopoietic stem cells	blood
46	chr16:48279600-48280400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:48279600-48280400	Enhancers	Brain Germinal Matrix	brain
48	chr16:48279600-48280400	Enhancers	Colonic Mucosa	Colon
49	chr16:48279600-48280400	Enhancers	Fetal Brain Male	brain
50	chr16:48279600-48280400	Enhancers	Fetal Heart	heart

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