Variant report

Variant	esv1815996
Chromosome Location	chr9:71536436-71550717
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	chr9:71545273..71547947-chr9:71556049..71558568,2	MCF-7	breast:
2	chr9:71546260..71548319-chr9:71558934..71561181,2	K562	blood:

Extended variants
information (count: 551 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558780961	chr9:71536467-71536468	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555612440	chr9:71536476-71536477	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577229802	chr9:71536477-71536478	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150771181	chr9:71536486-71536487	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568455079	chr9:71536505-71536506	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2152649	chr9:71536506-71536507	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs113924040	chr9:71536516-71536517	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111757976	chr9:71536522-71536523	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114289085	chr9:71536523-71536524	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143565757	chr9:71536538-71536539	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573210469	chr9:71536542-71536543	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528982296	chr9:71536543-71536544	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186031578	chr9:71536550-71536551	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11144313	chr9:71536579-71536580	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528958260	chr9:71536628-71536629	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544330196	chr9:71536648-71536649	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141476335	chr9:71536660-71536661	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532929128	chr9:71536702-71536703	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551400198	chr9:71536743-71536744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551663558	chr9:71536745-71536746	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566734416	chr9:71536746-71536747	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571188917	chr9:71536753-71536754	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142728686	chr9:71536766-71536767	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370804663	chr9:71536767-71536768	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192139592	chr9:71536789-71536790	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548904305	chr9:71536795-71536796	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12348451	chr9:71536810-71536811	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567646057	chr9:71536813-71536814	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551211089	chr9:71536815-71536816	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536769965	chr9:71536858-71536859	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556358114	chr9:71536863-71536864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537658700	chr9:71536883-71536884	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7047250	chr9:71536952-71536953	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs369468560	chr9:71536953-71536954	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569252868	chr9:71536954-71536955	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539405832	chr9:71536972-71536973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12351476	chr9:71536973-71536974	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs146324222	chr9:71537040-71537041	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116969109	chr9:71537043-71537044	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183800826	chr9:71537061-71537062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113895157	chr9:71537094-71537095	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190606898	chr9:71537147-71537148	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111854935	chr9:71537150-71537151	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11144326	chr9:71537187-71537188	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557914444	chr9:71537196-71537197	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7022925	chr9:71537197-71537198	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183075386	chr9:71537221-71537222	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113323548	chr9:71537261-71537262	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10781276	chr9:71537279-71537280	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs377331984	chr9:71537303-71537304	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71510400-71576200	Weak transcription	Stomach Mucosa	stomach
2	chr9:71512200-71548800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:71514200-71553600	Weak transcription	Aorta	Aorta
4	chr9:71514200-71557800	Weak transcription	Lung	lung
5	chr9:71519400-71573000	Weak transcription	Gastric	stomach
6	chr9:71528000-71542200	Weak transcription	Brain Angular Gyrus	brain
7	chr9:71528200-71537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:71530000-71538400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:71530400-71537000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr9:71530400-71542000	Weak transcription	K562	blood
11	chr9:71532800-71556800	Weak transcription	Right Ventricle	heart
12	chr9:71534600-71536600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr9:71534800-71537200	Strong transcription	Fetal Intestine Large	intestine
14	chr9:71535000-71569600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:71535200-71537600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:71535200-71538800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr9:71535200-71540200	Weak transcription	Fetal Heart	heart
18	chr9:71535200-71542000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:71535200-71544800	Weak transcription	HepG2	liver
20	chr9:71535200-71546000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr9:71535200-71547600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr9:71535200-71555400	Weak transcription	Left Ventricle	heart
23	chr9:71535400-71541600	Strong transcription	Fetal Intestine Small	intestine
24	chr9:71535400-71546400	Weak transcription	GM12878-XiMat	blood
25	chr9:71535600-71539800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:71535800-71536600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:71535800-71538200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr9:71535800-71547600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr9:71536000-71538400	Strong transcription	Primary B cells from cord blood	blood
30	chr9:71536200-71548400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:71536400-71546200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr9:71536600-71539800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:71536600-71544200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr9:71536600-71557400	Weak transcription	Colonic Mucosa	Colon
35	chr9:71537200-71544800	Weak transcription	Fetal Intestine Large	intestine
36	chr9:71537600-71537800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:71537600-71539000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:71538200-71543800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr9:71538400-71538800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:71538400-71542000	Weak transcription	Primary B cells from cord blood	blood
41	chr9:71538800-71541000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:71538800-71541800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr9:71539000-71540000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:71539800-71542200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr9:71539800-71542400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:71540000-71540800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:71540200-71540600	Enhancers	Fetal Heart	heart
48	chr9:71540800-71541800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:71541000-71542000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:71541600-71544800	Weak transcription	Fetal Intestine Small	intestine

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