Variant report

Variant	nsv521449
Chromosome Location	chr9:116101391-116102463
allele	n/a
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116036149..116038435-chr9:116101107..116104521,3	K562	blood:
2	chr9:116102456..116104363-chr9:116171276..116174227,4	MCF-7	breast:
3	chr8:21998505..21999349-chr9:116102446..116103218,2	Hela-S3	cervix:
4	chr9:116063284..116065510-chr9:116102338..116105750,4	MCF-7	breast:
5	chr9:116063977..116066911-chr9:116102342..116104616,4	MCF-7	breast:
6	chr9:116065580..116067565-chr9:116101050..116102835,2	MCF-7	breast:
7	chr9:116100085..116103833-chr9:116137751..116140667,4	MCF-7	breast:
8	chr9:116099899..116105558-chr9:116170913..116174361,7	MCF-7	breast:
9	chr9:116101037..116103011-chr9:116343010..116344663,2	MCF-7	breast:
10	chr9:116035986..116039204-chr9:116098421..116104240,5	MCF-7	breast:
11	chr9:116101294..116104058-chr9:116110419..116112658,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119431	chromatin interactions
ENSG00000157653	chromatin interactions
ENSG00000176386	chromatin interactions
ENSG00000138835	chromatin interactions
ENSG00000119411	chromatin interactions
ENSG00000136875	chromatin interactions
ENSG00000165188	chromatin interactions
ENSG00000148229	chromatin interactions
ENSG00000168476	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12337069	chr9:116101391-116101392	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370616659	chr9:116101472-116101473	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs572392018	chr9:116101483-116101484	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs145582385	chr9:116101536-116101537	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs12337123	chr9:116101543-116101544	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553229725	chr9:116101551-116101552	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs545594597	chr9:116101567-116101568	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs537762675	chr9:116101580-116101581	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs576295689	chr9:116101583-116101584	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs557552525	chr9:116101614-116101615	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs200062427	chr9:116101676-116101677	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs542090894	chr9:116101686-116101687	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs561557187	chr9:116101739-116101740	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs527304027	chr9:116101750-116101751	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs374103928	chr9:116101791-116101792	Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs564181297	chr9:116101918-116101919	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs10481672	chr9:116101937-116101938	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537198081	chr9:116101952-116101953	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs552162776	chr9:116101981-116101982	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs200137621	chr9:116102008-116102009	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs550155277	chr9:116102047-116102048	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs190755076	chr9:116102078-116102079	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs529596443	chr9:116102230-116102231	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs10481673	chr9:116102242-116102243	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566007839	chr9:116102279-116102280	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs373455962	chr9:116102350-116102351	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs184127676	chr9:116102400-116102401	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs571452571	chr9:116102410-116102411	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs537136905	chr9:116102417-116102418	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs575701389	chr9:116102442-116102443	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs142737972	chr9:116102452-116102453	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs576163831	chr9:116102461-116102462	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs10481674	chr9:116102463-116102464	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:55)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116073800-116101600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr9:116077400-116101400	Weak transcription	Brain Germinal Matrix	brain
3	chr9:116077400-116101600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:116080800-116101400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr9:116080800-116101600	Weak transcription	Fetal Brain Male	brain
6	chr9:116081000-116101600	Weak transcription	Pancreas	Pancrea
7	chr9:116082200-116101600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:116082600-116101400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:116082800-116101400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:116082800-116101600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:116082800-116101600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:116082800-116101600	Weak transcription	Brain Substantia Nigra	brain
13	chr9:116082800-116101600	Weak transcription	Fetal Kidney	kidney
14	chr9:116082800-116101600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:116082800-116102000	Weak transcription	Aorta	Aorta
16	chr9:116083000-116101400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:116083800-116101400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:116083800-116101600	Weak transcription	Right Ventricle	heart
19	chr9:116084000-116101400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:116084200-116101400	Weak transcription	Liver	Liver
21	chr9:116084200-116101400	Weak transcription	Brain Anterior Caudate	brain
22	chr9:116084200-116101400	Weak transcription	Fetal Stomach	stomach
23	chr9:116084200-116101600	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:116085400-116101400	Weak transcription	Adipose Nuclei	Adipose
25	chr9:116085400-116101400	Weak transcription	Fetal Lung	lung
26	chr9:116085400-116101600	Weak transcription	Brain Angular Gyrus	brain
27	chr9:116091400-116101400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:116092000-116101400	Weak transcription	Small Intestine	intestine
29	chr9:116093000-116101400	Weak transcription	Fetal Intestine Small	intestine
30	chr9:116093000-116101800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:116094400-116101400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:116094400-116101600	Weak transcription	Ovary	ovary
33	chr9:116095000-116101600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:116098400-116101400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr9:116098400-116101400	Weak transcription	NHDF-Ad	bronchial
36	chr9:116099400-116101400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:116101200-116101400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:116101200-116101400	Active TSS	Stomach Smooth Muscle	stomach
39	chr9:116101200-116101400	Enhancers	A549	lung
40	chr9:116101200-116101400	Enhancers	Dnd41	blood
41	chr9:116101200-116101400	Enhancers	Hela-S3	cervix
42	chr9:116101200-116101600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr9:116101200-116101600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:116101200-116101600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:116101200-116101600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr9:116101200-116101600	Enhancers	K562	blood
47	chr9:116101200-116101800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr9:116101200-116101800	Enhancers	Left Ventricle	heart
49	chr9:116101200-116101800	Flanking Active TSS	HepG2	liver
50	chr9:116101200-116102000	Flanking Active TSS	Colon Smooth Muscle	Colon

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