Variant report

Variant	nsv982623
Chromosome Location	chr9:78752088-78754899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115812786	chr9:78752119-78752120	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10781340	chr9:78752170-78752171	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs578237130	chr9:78752182-78752183	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369874040	chr9:78752234-78752235	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560300633	chr9:78752264-78752265	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150810176	chr9:78752292-78752293	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542629907	chr9:78752293-78752294	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141033732	chr9:78752379-78752380	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67339661	chr9:78752380-78752381	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72177354	chr9:78752388-78752389	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72540968	chr9:78752389-78752390	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36040188	chr9:78752390-78752391	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199776944	chr9:78752391-78752392	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562373105	chr9:78752439-78752440	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1339243	chr9:78752440-78752441	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187086805	chr9:78752448-78752449	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571204373	chr9:78752506-78752507	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527484559	chr9:78752560-78752561	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11144761	chr9:78752563-78752564	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs371749607	chr9:78752571-78752572	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190751439	chr9:78752640-78752641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535548220	chr9:78752647-78752648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13283154	chr9:78752764-78752765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs529438086	chr9:78752786-78752787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200477230	chr9:78752801-78752802	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139201537	chr9:78752828-78752829	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549043267	chr9:78752874-78752875	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149946646	chr9:78752939-78752940	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578240234	chr9:78752943-78752944	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540846845	chr9:78752946-78752947	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180808532	chr9:78752950-78752951	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574264134	chr9:78752964-78752965	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542392689	chr9:78752966-78752967	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562594570	chr9:78753027-78753028	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371026558	chr9:78753049-78753050	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374304250	chr9:78753053-78753054	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147146106	chr9:78753083-78753084	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140274851	chr9:78753118-78753119	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117944969	chr9:78753119-78753120	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34422326	chr9:78753169-78753170	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1339245	chr9:78753170-78753171	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567149380	chr9:78753188-78753189	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537720891	chr9:78753250-78753251	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529891812	chr9:78753258-78753259	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549261342	chr9:78753271-78753272	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1339246	chr9:78753324-78753325	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs182375265	chr9:78753326-78753327	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185501017	chr9:78753346-78753347	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571993819	chr9:78753365-78753366	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534526190	chr9:78753388-78753389	Weak transcription Enhancers Strong 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
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
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78688000-78774000	Weak transcription	Left Ventricle	heart
2	chr9:78723800-78752600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:78724000-78767000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr9:78725400-78766400	Weak transcription	Thymus	Thymus
5	chr9:78730200-78755000	Weak transcription	Aorta	Aorta
6	chr9:78745200-78753000	Weak transcription	Fetal Thymus	thymus
7	chr9:78745400-78758800	Weak transcription	Primary T cells from cord blood	blood
8	chr9:78748400-78769200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr9:78750400-78752200	Strong transcription	Fetal Intestine Large	intestine
10	chr9:78750400-78752600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:78750600-78752200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:78750600-78752200	Enhancers	NHDF-Ad	bronchial
13	chr9:78750600-78753000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr9:78750600-78753600	Enhancers	Ovary	ovary
15	chr9:78750800-78752200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:78750800-78752200	Enhancers	Colon Smooth Muscle	Colon
17	chr9:78750800-78753200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:78751000-78752400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:78751200-78752200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr9:78751200-78752600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr9:78751200-78752800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:78751400-78752200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr9:78751400-78752400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr9:78751400-78752400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:78751400-78752600	Strong transcription	Fetal Intestine Small	intestine
26	chr9:78751600-78752800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:78751600-78773200	Weak transcription	Fetal Stomach	stomach
28	chr9:78751800-78752200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr9:78751800-78752200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:78751800-78752200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:78751800-78752200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr9:78751800-78752200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:78751800-78752200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:78751800-78752200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr9:78751800-78752200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr9:78751800-78752200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:78751800-78752200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr9:78751800-78752200	Enhancers	Esophagus	oesophagus
39	chr9:78751800-78752200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr9:78751800-78752200	Enhancers	Lung	lung
41	chr9:78751800-78752200	Enhancers	Pancreas	Pancrea
42	chr9:78751800-78752200	Enhancers	Psoas Muscle	Psoas
43	chr9:78751800-78752200	Enhancers	Small Intestine	intestine
44	chr9:78751800-78752200	Enhancers	A549	lung
45	chr9:78751800-78752200	Enhancers	HMEC	breast
46	chr9:78751800-78752200	Enhancers	HSMM	muscle
47	chr9:78751800-78752200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr9:78751800-78752400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr9:78751800-78752400	Enhancers	NH-A	brain
50	chr9:78751800-78752400	Enhancers	Osteobl	bone

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