Variant report

Variant	rs544454089
Chromosome Location	chr15:41233030-41233031
allele	G/T
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41231280..41234394-chr15:41292861..41295820,3	K562	blood:
2	chr15:41232489..41235569-chr15:41253295..41255593,3	MCF-7	breast:
3	chr15:41130611..41132488-chr15:41231249..41233161,2	K562	blood:
4	chr15:40886274..40887836-chr15:41232537..41234993,2	K562	blood:
5	chr15:41232946..41236246-chr15:41262141..41265286,3	MCF-7	breast:
6	chr15:40978878..40981252-chr15:41232643..41234691,2	MCF-7	breast:
7	chr15:41206994..41209856-chr15:41231483..41234125,2	MCF-7	breast:
8	chr15:41230478..41233329-chr15:41297882..41299703,2	MCF-7	breast:
9	chr15:41193554..41195434-chr15:41232672..41235208,2	K562	blood:
10	chr15:41201322..41202834-chr15:41232432..41234012,2	MCF-7	breast:
11	chr15:41196058..41200363-chr15:41232746..41236796,6	MCF-7	breast:
12	chr15:41195653..41200412-chr15:41230792..41235632,4	MCF-7	breast:
13	chr15:41232897..41235509-chr15:41313138..41315009,3	MCF-7	breast:
14	chr15:41216351..41218911-chr15:41231824..41234826,3	MCF-7	breast:
15	chr15:41231034..41235223-chr15:41248876..41252149,4	MCF-7	breast:
16	chr15:41232446..41235218-chr15:41255104..41257063,2	K562	blood:
17	chr15:41231932..41234904-chr15:41266157..41268211,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137812	Chromatin interaction
ENSG00000251161	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv904106	chr15:41221067-41259523	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	esv3327396	chr15:41232885-41235433	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41225000-41233600	Weak transcription	Esophagus	oesophagus
2	chr15:41226000-41233400	Weak transcription	Thymus	Thymus
3	chr15:41227800-41233600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:41228000-41233200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:41228600-41233600	Enhancers	Fetal Thymus	thymus
6	chr15:41229600-41233400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:41230000-41233400	Weak transcription	Osteobl	bone
8	chr15:41230200-41233200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:41230200-41233200	Weak transcription	Stomach Mucosa	stomach
10	chr15:41230400-41233400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:41230600-41233200	Weak transcription	Fetal Heart	heart
12	chr15:41230600-41233800	Enhancers	Spleen	Spleen
13	chr15:41230800-41233600	Weak transcription	Psoas Muscle	Psoas
14	chr15:41230800-41233800	Weak transcription	Gastric	stomach
15	chr15:41231000-41233400	Enhancers	Fetal Muscle Trunk	muscle
16	chr15:41232000-41233400	Genic enhancers	Fetal Intestine Small	intestine
17	chr15:41232000-41233400	Enhancers	Fetal Muscle Leg	muscle
18	chr15:41232000-41233600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:41232000-41233800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr15:41232000-41234000	Enhancers	Primary B cells from peripheral blood	blood
21	chr15:41232000-41234000	Enhancers	Fetal Kidney	kidney
22	chr15:41232000-41234000	Flanking Active TSS	GM12878-XiMat	blood
23	chr15:41232200-41233200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr15:41232200-41233200	Enhancers	Duodenum Mucosa	Duodenum
25	chr15:41232200-41233400	Enhancers	Brain Cingulate Gyrus	brain
26	chr15:41232200-41233400	Enhancers	Right Ventricle	heart
27	chr15:41232200-41233600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:41232200-41233600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr15:41232200-41233600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:41232400-41233200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr15:41232400-41233200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr15:41232400-41233200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr15:41232400-41233200	Enhancers	Colonic Mucosa	Colon
34	chr15:41232400-41233200	Enhancers	Fetal Intestine Large	intestine
35	chr15:41232400-41233400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr15:41232400-41233400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr15:41232400-41233400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:41232400-41233400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr15:41232400-41233400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr15:41232400-41233400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr15:41232400-41233400	Enhancers	Brain Anterior Caudate	brain
42	chr15:41232400-41233400	Enhancers	Brain Substantia Nigra	brain
43	chr15:41232400-41233400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr15:41232400-41233400	Enhancers	NHDF-Ad	bronchial
45	chr15:41232400-41233600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:41232400-41233600	Enhancers	Primary B cells from cord blood	blood
47	chr15:41232400-41233600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:41232400-41233600	Enhancers	NH-A	brain
49	chr15:41232400-41233800	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr15:41232400-41233800	Enhancers	Placenta Amnion	Placenta Amnion

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