Variant report

Variant	rs200062427
Chromosome Location	chr9:116101676-116101677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116100085..116103833-chr9:116137751..116140667,4	MCF-7	breast:
2	chr9:116065580..116067565-chr9:116101050..116102835,2	MCF-7	breast:
3	chr9:116099899..116105558-chr9:116170913..116174361,7	MCF-7	breast:
4	chr9:116101037..116103011-chr9:116343010..116344663,2	MCF-7	breast:
5	chr9:116101294..116104058-chr9:116110419..116112658,2	K562	blood:
6	chr9:116036149..116038435-chr9:116101107..116104521,3	K562	blood:
7	chr9:116035986..116039204-chr9:116098421..116104240,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119411	Chromatin interaction
ENSG00000138835	Chromatin interaction
ENSG00000176386	Chromatin interaction
ENSG00000165188	Chromatin interaction
ENSG00000119431	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000136875	Chromatin interaction
ENSG00000148229	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv521449	chr9:116101391-116102463	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116082800-116102000	Weak transcription	Aorta	Aorta
2	chr9:116093000-116101800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:116101200-116101800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:116101200-116101800	Enhancers	Left Ventricle	heart
5	chr9:116101200-116101800	Flanking Active TSS	HepG2	liver
6	chr9:116101200-116102000	Flanking Active TSS	Colon Smooth Muscle	Colon
7	chr9:116101400-116101800	Enhancers	Primary hematopoietic stem cells	blood
8	chr9:116101400-116101800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr9:116101400-116101800	Enhancers	Liver	Liver
10	chr9:116101400-116101800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr9:116101400-116101800	Enhancers	Fetal Heart	heart
12	chr9:116101400-116101800	Enhancers	Fetal Intestine Large	intestine
13	chr9:116101400-116101800	Enhancers	Fetal Stomach	stomach
14	chr9:116101400-116101800	Enhancers	Stomach Mucosa	stomach
15	chr9:116101400-116101800	Flanking Active TSS	A549	lung
16	chr9:116101400-116102000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:116101400-116102000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:116101400-116102000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr9:116101400-116102000	Enhancers	Small Intestine	intestine
20	chr9:116101400-116102000	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr9:116101400-116102000	Flanking Active TSS	Hela-S3	cervix
22	chr9:116101400-116102200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr9:116101400-116102200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:116101400-116102200	Flanking Active TSS	Dnd41	blood
25	chr9:116101400-116102800	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr9:116101400-116103000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:116101400-116103200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:116101600-116101800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr9:116101600-116101800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr9:116101600-116101800	Enhancers	Primary B cells from cord blood	blood
31	chr9:116101600-116101800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr9:116101600-116101800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr9:116101600-116101800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr9:116101600-116101800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:116101600-116101800	Active TSS	Brain Hippocampus Middle	brain
36	chr9:116101600-116101800	Enhancers	Brain Substantia Nigra	brain
37	chr9:116101600-116101800	Enhancers	Fetal Muscle Trunk	muscle
38	chr9:116101600-116101800	Enhancers	Fetal Muscle Leg	muscle
39	chr9:116101600-116101800	Enhancers	Placenta	Placenta
40	chr9:116101600-116101800	Enhancers	Fetal Thymus	thymus
41	chr9:116101600-116101800	Enhancers	Ovary	ovary
42	chr9:116101600-116101800	Enhancers	Pancreas	Pancrea
43	chr9:116101600-116101800	Flanking Active TSS	Right Ventricle	heart
44	chr9:116101600-116101800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr9:116101600-116101800	Enhancers	HUVEC	blood vessel
46	chr9:116101600-116102000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
47	chr9:116101600-116102000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
48	chr9:116101600-116102000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:116101600-116102000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:116101600-116102000	Enhancers	Primary B cells from peripheral blood	blood

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