Variant report

Variant	esv3485689
Chromosome Location	chr9:100761031-100761437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100683227..100687367-chr9:100758311..100762778,5	K562	blood:

Variant related genes	Relation type
ENSG00000136932	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547724231	chr9:100761048-100761049	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs10984703	chr9:100761067-100761068	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs10984704	chr9:100761076-100761077	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10984705	chr9:100761077-100761078	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566116512	chr9:100761112-100761113	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10984707	chr9:100761220-100761221	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570708315	chr9:100761311-100761312	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148729492	chr9:100761362-100761363	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535109796	chr9:100761384-100761385	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534114514	chr9:100761386-100761387	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150949335	chr9:100761387-100761388	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200251371	chr9:100761388-100761389	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10984709	chr9:100761397-100761398	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537603561	chr9:100761436-100761437	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100748000-100767200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:100748400-100761600	Weak transcription	Brain Anterior Caudate	brain
3	chr9:100749200-100767200	Weak transcription	Esophagus	oesophagus
4	chr9:100750000-100767200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:100750000-100767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:100750800-100764000	Weak transcription	Fetal Brain Female	brain
7	chr9:100751000-100761800	Weak transcription	Right Atrium	heart
8	chr9:100751000-100764200	Weak transcription	Fetal Brain Male	brain
9	chr9:100751000-100765200	Weak transcription	Aorta	Aorta
10	chr9:100752000-100784000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:100753000-100761600	Weak transcription	HSMMtube	muscle
12	chr9:100753000-100767800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:100753000-100768400	Weak transcription	Fetal Heart	heart
14	chr9:100753000-100769000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:100753400-100767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:100753600-100767200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:100754600-100784200	Strong transcription	Dnd41	blood
18	chr9:100754600-100784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:100755200-100782200	Strong transcription	HepG2	liver
20	chr9:100755200-100783800	Strong transcription	NHEK	skin
21	chr9:100755400-100763800	Weak transcription	Gastric	stomach
22	chr9:100755400-100783000	Weak transcription	Stomach Mucosa	stomach
23	chr9:100755600-100769200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr9:100755600-100784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:100755800-100761400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr9:100755800-100782200	Strong transcription	K562	blood
27	chr9:100756000-100777800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:100756200-100761600	Weak transcription	Ovary	ovary
29	chr9:100756200-100767200	Weak transcription	Colonic Mucosa	Colon
30	chr9:100756400-100763000	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:100756400-100767200	Weak transcription	Spleen	Spleen
32	chr9:100756400-100772600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr9:100756400-100783600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:100756400-100783800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr9:100756400-100784400	Strong transcription	Fetal Thymus	thymus
36	chr9:100756600-100761600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr9:100756600-100762400	Weak transcription	Small Intestine	intestine
38	chr9:100756600-100763000	Strong transcription	Hela-S3	cervix
39	chr9:100756600-100767600	Weak transcription	Brain Germinal Matrix	brain
40	chr9:100756600-100785600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr9:100756800-100765600	Strong transcription	Fetal Muscle Leg	muscle
42	chr9:100756800-100771600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr9:100756800-100771800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr9:100756800-100781200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr9:100756800-100783000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:100756800-100783400	Strong transcription	HMEC	breast
47	chr9:100757000-100762600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr9:100757000-100762600	Strong transcription	NH-A	brain
49	chr9:100757000-100762800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr9:100757000-100762800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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