Variant report

Variant	esv3430747
Chromosome Location	chr9:116364180-116364301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116357889..116361731-chr9:116362609..116366505,5	MCF-7	breast:
2	chr9:116348874..116350912-chr9:116362853..116364416,2	MCF-7	breast:
3	chr9:116353752..116357757-chr9:116360190..116364418,7	K562	blood:
4	chr9:116343200..116345201-chr9:116363106..116364913,2	MCF-7	breast:
5	chr9:116362421..116364215-chr9:116382528..116385259,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377700236	chr9:116364217-116364218	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369956604	chr9:116364224-116364225	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

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
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116357400-116364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:116357400-116364800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr9:116357800-116364400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:116358000-116371800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:116359800-116364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:116360000-116364200	Weak transcription	Fetal Thymus	thymus
7	chr9:116360200-116365400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr9:116360200-116366400	Enhancers	Placenta	Placenta
9	chr9:116360400-116364200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:116360400-116364400	Weak transcription	Small Intestine	intestine
11	chr9:116360400-116364600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:116360400-116364600	Weak transcription	Fetal Brain Female	brain
13	chr9:116360400-116371800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:116360600-116364200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:116360600-116365800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:116360600-116366000	Enhancers	Right Ventricle	heart
17	chr9:116360800-116364200	Weak transcription	Gastric	stomach
18	chr9:116360800-116364400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr9:116360800-116366000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:116360800-116366000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr9:116360800-116366000	Enhancers	NHDF-Ad	bronchial
22	chr9:116360800-116366600	Enhancers	Liver	Liver
23	chr9:116361000-116364400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr9:116361000-116364400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:116361000-116364400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:116361000-116364600	Weak transcription	Brain Germinal Matrix	brain
27	chr9:116361000-116364600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr9:116361000-116365600	Enhancers	Left Ventricle	heart
29	chr9:116361000-116366400	Enhancers	Fetal Muscle Leg	muscle
30	chr9:116361200-116364200	Weak transcription	Fetal Intestine Large	intestine
31	chr9:116361200-116364200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr9:116361200-116365600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:116361200-116365800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr9:116361200-116366600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr9:116361400-116364200	Weak transcription	Primary B cells from cord blood	blood
36	chr9:116361400-116366000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:116361400-116366000	Enhancers	Fetal Lung	lung
38	chr9:116361400-116367000	Enhancers	Adipose Nuclei	Adipose
39	chr9:116361600-116364800	Enhancers	Spleen	Spleen
40	chr9:116361600-116365000	Enhancers	HSMM	muscle
41	chr9:116361600-116365600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr9:116361800-116365000	Enhancers	HUVEC	blood vessel
43	chr9:116361800-116365200	Enhancers	HSMMtube	muscle
44	chr9:116362000-116366000	Enhancers	HMEC	breast
45	chr9:116362000-116366600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr9:116362200-116365800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:116362400-116364600	Weak transcription	Fetal Brain Male	brain
48	chr9:116362400-116364800	Enhancers	Brain Anterior Caudate	brain
49	chr9:116362400-116365400	Enhancers	Osteobl	bone
50	chr9:116362400-116365600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links