Variant report

Variant	esv3513672
Chromosome Location	chr9:71665211-71665666
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	chr9:71648859..71652807-chr9:71663115..71665569,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165060	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139760015	chr9:71665338-71665339	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372796403	chr9:71665339-71665340	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201602277	chr9:71665340-71665341	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200982562	chr9:71665341-71665342	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201863916	chr9:71665342-71665343	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374700296	chr9:71665553-71665554	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368044395	chr9:71665554-71665555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370655328	chr9:71665555-71665556	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373916791	chr9:71665556-71665557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373186279	chr9:71665557-71665558	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71651800-71680600	Weak transcription	HSMMtube	muscle
2	chr9:71652000-71672800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:71652000-71680600	Weak transcription	Brain Angular Gyrus	brain
4	chr9:71652000-71680800	Weak transcription	Primary B cells from cord blood	blood
5	chr9:71656600-71669800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr9:71658000-71670200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:71659600-71689800	Weak transcription	Colonic Mucosa	Colon
8	chr9:71659800-71683000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:71659800-71683000	Weak transcription	Psoas Muscle	Psoas
10	chr9:71659800-71685200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr9:71660000-71669000	Weak transcription	Stomach Mucosa	stomach
12	chr9:71660000-71669800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:71660000-71669800	Weak transcription	Hela-S3	cervix
14	chr9:71660000-71672600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:71660000-71679000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:71660000-71680800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:71660000-71682000	Weak transcription	NHLF	lung
18	chr9:71660000-71684400	Weak transcription	Small Intestine	intestine
19	chr9:71660000-71689400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:71660200-71665400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr9:71660600-71665400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr9:71660800-71665800	Strong transcription	Primary T cells from cord blood	blood
23	chr9:71660800-71666400	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr9:71661000-71675600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:71661200-71665400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:71661200-71665400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr9:71661200-71684800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr9:71661400-71665400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:71661400-71666400	Strong transcription	HepG2	liver
30	chr9:71661800-71665400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr9:71661800-71665400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr9:71662000-71665400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr9:71662000-71665400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:71662000-71671200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr9:71662000-71679800	Weak transcription	Fetal Kidney	kidney
36	chr9:71662400-71675400	Weak transcription	Fetal Heart	heart
37	chr9:71662600-71672600	Weak transcription	HSMM	muscle
38	chr9:71662800-71670000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr9:71662800-71686400	Weak transcription	Fetal Brain Female	brain
40	chr9:71663200-71665600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr9:71663200-71670200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:71663400-71665400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:71663600-71671000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:71664000-71674600	Weak transcription	HUVEC	blood vessel
45	chr9:71664000-71675400	Weak transcription	Brain Hippocampus Middle	brain
46	chr9:71664000-71675600	Weak transcription	Brain Substantia Nigra	brain
47	chr9:71664000-71675600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr9:71664000-71682000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr9:71664200-71666000	Weak transcription	Fetal Intestine Small	intestine
50	chr9:71664200-71669600	Weak transcription	Placenta Amnion	Placenta Amnion

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