Variant report

Variant	nsv416141
Chromosome Location	chr9:93638589-93643961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93636708..93639399-chr9:93641106..93642988,2	K562	blood:
2	chr9:93636708..93639399-chr9:93641106..93642988,2	K562	blood:
3	chr9:93633763..93637108-chr9:93639159..93643075,3	MCF-7	breast:
4	chr9:93638591..93640127-chr9:93644373..93647334,2	K562	blood:
5	chr9:93563257..93565771-chr9:93639113..93640661,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165025	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528419758	chr9:93638632-93638633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114498092	chr9:93638633-93638634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565164103	chr9:93638638-93638639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10589163	chr9:93638649-93638650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72249763	chr9:93638650-93638651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4744018	chr9:93638696-93638697	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs201229485	chr9:93638737-93638738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4744517	chr9:93638739-93638740	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190255119	chr9:93638742-93638743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199763927	chr9:93638743-93638744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374577633	chr9:93638744-93638745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4744019	chr9:93638769-93638770	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs4744518	chr9:93638848-93638849	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528184901	chr9:93638868-93638869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575004251	chr9:93638877-93638878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372750578	chr9:93638929-93638930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538230679	chr9:93638938-93638939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558070579	chr9:93638952-93638953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs167063	chr9:93638966-93638967	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181150617	chr9:93638970-93638971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186445695	chr9:93638991-93638992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574064031	chr9:93639004-93639005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561684344	chr9:93639036-93639037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189697569	chr9:93639071-93639072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150989074	chr9:93639085-93639086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4744519	chr9:93639142-93639143	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545412975	chr9:93639191-93639192	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565229234	chr9:93639226-93639227	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs16906904	chr9:93639228-93639229	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139596511	chr9:93639238-93639239	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs180825065	chr9:93639310-93639311	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs3789905	chr9:93639345-93639346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546708616	chr9:93639360-93639361	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs185220717	chr9:93639392-93639393	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs115184622	chr9:93639488-93639489	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs290225	chr9:93639489-93639490	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571614289	chr9:93639495-93639496	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368260792	chr9:93639517-93639518	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557292321	chr9:93639525-93639526	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370672116	chr9:93639541-93639542	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149747144	chr9:93639572-93639573	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs114500927	chr9:93639587-93639588	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs290224	chr9:93639590-93639591	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7867867	chr9:93639640-93639641	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545423061	chr9:93639646-93639647	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558952162	chr9:93639664-93639665	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs3827824	chr9:93639679-93639680	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544468496	chr9:93639686-93639687	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530683391	chr9:93639753-93639754	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529938816	chr9:93639771-93639772	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93601800-93642200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:93611200-93642200	Weak transcription	Stomach Mucosa	stomach
3	chr9:93617200-93640600	Weak transcription	K562	blood
4	chr9:93617400-93640600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:93617800-93640600	Weak transcription	NHEK	skin
6	chr9:93623600-93642400	Weak transcription	Adipose Nuclei	Adipose
7	chr9:93625000-93642200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:93625200-93642400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:93626000-93647800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:93629200-93640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:93629600-93639400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:93629800-93639400	Weak transcription	Colonic Mucosa	Colon
13	chr9:93630000-93639400	Weak transcription	Gastric	stomach
14	chr9:93630000-93644800	Weak transcription	Pancreas	Pancrea
15	chr9:93632600-93641600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr9:93633400-93645800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr9:93633800-93645400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr9:93634000-93642600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:93634000-93645800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr9:93634000-93646200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:93634000-93646400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:93634000-93666200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr9:93634400-93646600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr9:93635200-93640800	Strong transcription	Fetal Intestine Small	intestine
25	chr9:93635600-93646200	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr9:93636000-93644000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr9:93636400-93650600	Weak transcription	Liver	Liver
28	chr9:93637000-93639600	Weak transcription	Esophagus	oesophagus
29	chr9:93637000-93640800	Weak transcription	Fetal Kidney	kidney
30	chr9:93637200-93639400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:93637200-93639400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr9:93637200-93639400	Weak transcription	Fetal Stomach	stomach
33	chr9:93637200-93639400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr9:93637200-93639400	Weak transcription	Thymus	Thymus
35	chr9:93637200-93639400	Weak transcription	Spleen	Spleen
36	chr9:93637200-93640400	Weak transcription	GM12878-XiMat	blood
37	chr9:93637200-93642400	Weak transcription	Lung	lung
38	chr9:93637200-93642400	Weak transcription	Small Intestine	intestine
39	chr9:93637600-93639400	Weak transcription	Fetal Thymus	thymus
40	chr9:93637800-93639800	Weak transcription	Fetal Intestine Large	intestine
41	chr9:93638000-93638800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr9:93638200-93640000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr9:93638200-93641800	Strong transcription	Primary B cells from cord blood	blood
44	chr9:93638800-93646800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr9:93639400-93640200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:93639400-93640200	Strong transcription	Colonic Mucosa	Colon
47	chr9:93639400-93642800	Strong transcription	Spleen	Spleen
48	chr9:93639400-93643400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr9:93639400-93643600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:93639400-93643600	Strong transcription	Gastric	stomach

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