Variant report

Variant	nsv518664
Chromosome Location	chr9:85391686-85399923
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	chr9:85389992..85391848-chr9:85397163..85400021,3	MCF-7	breast:
2	chr9:85389992..85391848-chr9:85397163..85400021,3	MCF-7	breast:

Extended variants
information (count: 331 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs932638	chr9:85391686-85391687	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7859706	chr9:85391724-85391725	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537966570	chr9:85391727-85391728	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114315151	chr9:85391731-85391732	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7875501	chr9:85391790-85391791	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs4877707	chr9:85391834-85391835	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553694259	chr9:85391859-85391860	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62576975	chr9:85391887-85391888	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76765450	chr9:85391893-85391894	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138158052	chr9:85391894-85391895	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545099230	chr9:85391909-85391910	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576112165	chr9:85391918-85391919	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544705434	chr9:85391929-85391930	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562834615	chr9:85392006-85392007	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574934965	chr9:85392007-85392008	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143709793	chr9:85392012-85392013	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186989356	chr9:85392013-85392014	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528007520	chr9:85392019-85392020	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552568029	chr9:85392040-85392041	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7032810	chr9:85392084-85392085	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs368696421	chr9:85392092-85392093	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146234228	chr9:85392117-85392118	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191427892	chr9:85392124-85392125	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568058778	chr9:85392130-85392131	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535107004	chr9:85392138-85392139	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138947343	chr9:85392203-85392204	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368710178	chr9:85392212-85392213	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117556360	chr9:85392284-85392285	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112987790	chr9:85392326-85392327	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77913289	chr9:85392352-85392353	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530513719	chr9:85392368-85392369	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141401200	chr9:85392471-85392472	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150824813	chr9:85392497-85392498	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536852879	chr9:85392537-85392538	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545988257	chr9:85392560-85392561	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556646294	chr9:85392620-85392621	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139283713	chr9:85392623-85392624	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542309350	chr9:85392658-85392659	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554230223	chr9:85392687-85392688	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572423445	chr9:85392702-85392703	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77228631	chr9:85392714-85392715	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545538176	chr9:85392745-85392746	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576549658	chr9:85392815-85392816	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113854188	chr9:85392836-85392837	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543630787	chr9:85392844-85392845	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560852659	chr9:85392846-85392847	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561479883	chr9:85392859-85392860	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74512296	chr9:85392891-85392892	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116555808	chr9:85392892-85392893	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565349664	chr9:85392894-85392895	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	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
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85390000-85395400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr9:85390800-85400600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr9:85391200-85391800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
4	chr9:85391200-85392200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr9:85391200-85392800	Enhancers	Placenta	Placenta
6	chr9:85391400-85391800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:85391600-85392400	Weak transcription	Spleen	Spleen
8	chr9:85391600-85394800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr9:85391600-85404000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:85391800-85393200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:85391800-85395400	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr9:85392200-85396800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr9:85392400-85392600	Enhancers	Spleen	Spleen
14	chr9:85393200-85393400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:85393400-85403800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:85394800-85395400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr9:85395400-85401400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:85395400-85424800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr9:85396200-85396800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr9:85396200-85398000	Enhancers	Dnd41	blood
21	chr9:85396200-85398800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr9:85396400-85397400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:85396600-85396800	Bivalent Enhancer	Fetal Kidney	kidney
24	chr9:85396600-85397000	Active TSS	Fetal Brain Female	brain
25	chr9:85396600-85397600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr9:85396600-85397800	Enhancers	Brain Germinal Matrix	brain
27	chr9:85396800-85397000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr9:85396800-85397000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
29	chr9:85396800-85397000	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr9:85396800-85397200	Enhancers	Fetal Brain Male	brain
31	chr9:85396800-85397600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr9:85396800-85397600	Enhancers	Small Intestine	intestine
33	chr9:85396800-85397800	Enhancers	Duodenum Mucosa	Duodenum
34	chr9:85396800-85398000	Enhancers	Fetal Lung	lung
35	chr9:85397000-85397200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr9:85397000-85397200	Flanking Active TSS	Fetal Kidney	kidney
37	chr9:85397000-85397800	Enhancers	Fetal Brain Female	brain
38	chr9:85397000-85397800	Enhancers	Fetal Intestine Small	intestine
39	chr9:85397000-85397800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr9:85397200-85397400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr9:85397200-85397400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr9:85397200-85397400	Flanking Active TSS	Fetal Brain Male	brain
43	chr9:85397200-85398200	Enhancers	Fetal Kidney	kidney
44	chr9:85397200-85398600	Enhancers	Stomach Mucosa	stomach
45	chr9:85397400-85397600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:85397400-85397800	Active TSS	Fetal Brain Male	brain
47	chr9:85397400-85398200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr9:85397600-85397800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr9:85397800-85398200	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr9:85397800-85399400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links