Variant report

Variant	nsv430079
Chromosome Location	chr9:93620963-93642766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:93638591..93640127-chr9:93644373..93647334,2	K562	blood:
2	chr9:93563040..93565332-chr9:93619381..93621543,3	MCF-7	breast:
3	chr9:93536735..93537703-chr9:93632954..93633929,5	MCF-7	breast:
4	chr9:93600199..93601130-chr9:93632811..93633736,2	MCF-7	breast:
5	chr9:93563257..93565771-chr9:93639113..93640661,2	MCF-7	breast:
6	chr9:93488467..93489082-chr9:93633187..93633730,2	MCF-7	breast:
7	chr9:93633763..93637108-chr9:93639159..93643075,3	MCF-7	breast:
8	chr9:93612029..93614987-chr9:93622441..93624241,2	MCF-7	breast:
9	chr9:93619506..93622175-chr9:93629106..93631175,2	MCF-7	breast:
10	chr9:93633763..93637108-chr9:93639159..93643075,3	MCF-7	breast:
11	chr9:93571707..93573621-chr9:93620166..93622474,2	MCF-7	breast:
12	chr9:93562955..93565844-chr9:93624678..93627429,2	MCF-7	breast:
13	chr9:93080247..93081211-chr9:93633166..93633778,2	MCF-7	breast:
14	chr9:93628438..93632863-chr9:93633146..93636625,4	K562	blood:
15	chr9:93628438..93632863-chr9:93633146..93636625,4	K562	blood:
16	chr9:93619506..93622175-chr9:93629106..93631175,2	MCF-7	breast:
17	chr9:93612250..93614199-chr9:93619484..93621935,2	MCF-7	breast:
18	chr9:93636708..93639399-chr9:93641106..93642988,2	K562	blood:
19	chr9:93563271..93565722-chr9:93625560..93627552,2	MCF-7	breast:
20	chr9:93636708..93639399-chr9:93641106..93642988,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165025	chromatin interactions

Extended variants
information (count: 962 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:962 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs290203	chr9:93620963-93620964	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186832186	chr9:93620964-93620965	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192370238	chr9:93620965-93620966	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185647521	chr9:93620977-93620978	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12000793	chr9:93620991-93620992	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371651632	chr9:93621024-93621025	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs559490037	chr9:93621030-93621031	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190114984	chr9:93621049-93621050	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552354514	chr9:93621084-93621085	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373712821	chr9:93621118-93621119	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377606336	chr9:93621121-93621122	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs568920195	chr9:93621141-93621142	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12006330	chr9:93621213-93621214	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554338710	chr9:93621246-93621247	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139587835	chr9:93621274-93621275	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541945209	chr9:93621305-93621306	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs533574002	chr9:93621468-93621469	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553341950	chr9:93621483-93621484	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192874569	chr9:93621484-93621485	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs71494430	chr9:93621576-93621577	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538323124	chr9:93621593-93621594	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145536711	chr9:93621639-93621640	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377368731	chr9:93621689-93621690	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185403637	chr9:93621782-93621783	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188535102	chr9:93621795-93621796	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544771508	chr9:93621806-93621807	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181327141	chr9:93621823-93621824	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55935711	chr9:93621837-93621838	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540680012	chr9:93621852-93621853	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560479567	chr9:93621861-93621862	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532459487	chr9:93621870-93621871	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560238246	chr9:93621966-93621967	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184888875	chr9:93621996-93621997	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531432428	chr9:93622004-93622005	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553554287	chr9:93622032-93622033	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548347359	chr9:93622043-93622044	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567852503	chr9:93622044-93622045	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145360829	chr9:93622059-93622060	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1675328	chr9:93622073-93622074	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570071797	chr9:93622114-93622115	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12001366	chr9:93622150-93622151	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559016273	chr9:93622175-93622176	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148784658	chr9:93622176-93622177	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561076881	chr9:93622230-93622231	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555144235	chr9:93622231-93622232	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574991716	chr9:93622268-93622269	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542545236	chr9:93622276-93622277	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34203790	chr9:93622277-93622278	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs67515544	chr9:93622284-93622285	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs3838340	chr9:93622285-93622286	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	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:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93601800-93642200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:93605000-93622800	Weak transcription	Adipose Nuclei	Adipose
3	chr9:93605000-93633000	Weak transcription	Fetal Kidney	kidney
4	chr9:93605800-93621400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr9:93605800-93621600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr9:93605800-93631000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr9:93608200-93624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr9:93610400-93624600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr9:93611200-93642200	Weak transcription	Stomach Mucosa	stomach
10	chr9:93612400-93623200	Weak transcription	Colonic Mucosa	Colon
11	chr9:93613200-93621800	Weak transcription	Pancreas	Pancrea
12	chr9:93614800-93623800	Weak transcription	Left Ventricle	heart
13	chr9:93615400-93624000	Weak transcription	Gastric	stomach
14	chr9:93615600-93623200	Weak transcription	Esophagus	oesophagus
15	chr9:93615600-93623600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr9:93616800-93624400	Weak transcription	Lung	lung
17	chr9:93617200-93624000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:93617200-93640600	Weak transcription	K562	blood
19	chr9:93617400-93622600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr9:93617400-93622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:93617400-93629600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:93617400-93640600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:93617600-93623400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:93617800-93640600	Weak transcription	NHEK	skin
25	chr9:93619000-93623800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr9:93619200-93621200	Genic enhancers	Fetal Thymus	thymus
27	chr9:93619200-93621400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr9:93619200-93623600	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr9:93619400-93621600	Enhancers	Primary T cells from cord blood	blood
30	chr9:93619400-93630000	Strong transcription	Thymus	Thymus
31	chr9:93619600-93621600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr9:93619800-93621000	Strong transcription	Fetal Stomach	stomach
33	chr9:93619800-93622200	Strong transcription	Fetal Intestine Large	intestine
34	chr9:93619800-93622800	Weak transcription	GM12878-XiMat	blood
35	chr9:93619800-93627000	Strong transcription	Fetal Intestine Small	intestine
36	chr9:93620000-93621200	Genic enhancers	Primary B cells from cord blood	blood
37	chr9:93620200-93623000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:93620400-93621200	Genic enhancers	Spleen	Spleen
39	chr9:93620600-93621000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:93620600-93621600	Enhancers	Primary hematopoietic stem cells	blood
41	chr9:93620600-93621800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:93620600-93624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr9:93620800-93625600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr9:93621000-93621200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr9:93621000-93622800	Weak transcription	Fetal Stomach	stomach
46	chr9:93621000-93623200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:93621200-93622000	Weak transcription	Spleen	Spleen
48	chr9:93621200-93626600	Strong transcription	Fetal Thymus	thymus
49	chr9:93621200-93631400	Strong transcription	Primary B cells from cord blood	blood
50	chr9:93621400-93621600	Genic enhancers	Duodenum Mucosa	Duodenum

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