Variant report

Variant	nsv1040891
Chromosome Location	chr9:96361529-96397338
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96353488..96355423-chr9:96374627..96377387,2	K562	blood:
2	chr9:96365988..96367962-chr9:96372230..96374229,2	MCF-7	breast:
3	chr9:96374097..96376355-chr9:96382214..96384351,2	K562	blood:
4	chr9:96394493..96396202-chr9:96397169..96399120,2	MCF-7	breast:
5	chr9:96381800..96384732-chr9:96385534..96387472,3	MCF-7	breast:
6	chr9:96379107..96381453-chr9:96385591..96387233,2	MCF-7	breast:
7	chr9:96393648..96395801-chr9:96402500..96404793,2	MCF-7	breast:
8	chr9:96381800..96384732-chr9:96385534..96387472,3	MCF-7	breast:
9	chr9:96360523..96363170-chr9:96791187..96793107,2	MCF-7	breast:
10	chr9:96363027..96365894-chr9:96366005..96367741,2	K562	blood:
11	chr9:96338100..96342684-chr9:96381746..96385734,6	MCF-7	breast:
12	chr9:96338137..96340211-chr9:96373633..96375791,2	K562	blood:
13	chr9:96394612..96397512-chr9:96407900..96409512,2	MCF-7	breast:
14	chr9:96363030..96364591-chr9:96367019..96369226,2	MCF-7	breast:
15	chr9:96338802..96340670-chr9:96371503..96373772,3	MCF-7	breast:
16	chr9:96389762..96391845-chr9:96392211..96394395,2	K562	blood:
17	chr9:96371713..96374026-chr9:96382749..96385685,2	K562	blood:
18	chr9:96394493..96396202-chr9:96397169..96399120,2	MCF-7	breast:
19	chr9:96338187..96341203-chr9:96391174..96393981,3	MCF-7	breast:
20	chr9:96346772..96349327-chr9:96380904..96383527,2	MCF-7	breast:
21	chr9:96371713..96374026-chr9:96382749..96385685,2	K562	blood:
22	chr9:96356589..96359432-chr9:96360730..96362532,3	MCF-7	breast:
23	chr9:96353562..96356481-chr9:96362305..96366209,4	MCF-7	breast:
24	chr9:96337969..96340007-chr9:96379464..96381194,2	MCF-7	breast:
25	chr9:96340603..96342904-chr9:96370807..96373306,2	K562	blood:
26	chr9:96382332..96382997-chr9:96442806..96443414,2	MCF-7	breast:
27	chr9:96363030..96364591-chr9:96367019..96369226,2	MCF-7	breast:
28	chr9:96385198..96387004-chr9:96393310..96394874,2	MCF-7	breast:
29	chr9:96375382..96377064-chr9:96378905..96380672,2	MCF-7	breast:
30	chr9:96374097..96376355-chr9:96382214..96384351,2	K562	blood:
31	chr9:96336608..96339307-chr9:96363926..96365665,2	K562	blood:
32	chr9:96391831..96394155-chr9:96413684..96415869,2	K562	blood:
33	chr9:96382620..96384260-chr9:96389901..96392114,2	MCF-7	breast:
34	chr9:96389762..96391845-chr9:96392211..96394395,2	K562	blood:
35	chr9:96375382..96377064-chr9:96378905..96380672,2	MCF-7	breast:
36	chr9:96363027..96365894-chr9:96366005..96367741,2	K562	blood:
37	chr9:96353399..96355498-chr9:96360574..96362233,2	MCF-7	breast:
38	chr13:19663485..19664146-chr9:96361818..96362350,3	MCF-7	breast:
39	chr9:96391172..96393560-chr9:96396943..96399376,2	K562	blood:
40	chr9:96379107..96381453-chr9:96385591..96387233,2	MCF-7	breast:
41	chr9:96336833..96339118-chr9:96375167..96379434,3	MCF-7	breast:
42	chr9:96382620..96384260-chr9:96389901..96392114,2	MCF-7	breast:
43	chr9:96397302..96399892-chr9:96415445..96418992,3	MCF-7	breast:
44	chr9:96365988..96367962-chr9:96372230..96374229,2	MCF-7	breast:
45	chr9:96385198..96387004-chr9:96393310..96394874,2	MCF-7	breast:
46	chr9:96391172..96393560-chr9:96396943..96399376,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197724	chromatin interactions
ENSG00000158079	chromatin interactions

Extended variants
information (count: 1646 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1646 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74858391	chr9:96361535-96361536	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117927542	chr9:96361537-96361538	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562899427	chr9:96361538-96361539	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547494528	chr9:96361557-96361558	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535636706	chr9:96361564-96361565	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4744258	chr9:96361569-96361570	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs10739951	chr9:96361585-96361586	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539477182	chr9:96361601-96361602	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146296269	chr9:96361602-96361603	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs560152951	chr9:96361633-96361634	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573042176	chr9:96361634-96361635	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540326835	chr9:96361642-96361643	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555531638	chr9:96361678-96361679	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574589546	chr9:96361703-96361704	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs375878824	chr9:96361705-96361706	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541631237	chr9:96361782-96361783	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563627406	chr9:96361912-96361913	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs10761240	chr9:96361922-96361923	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs117375682	chr9:96361923-96361924	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs564066156	chr9:96361980-96361981	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528042658	chr9:96361998-96361999	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10821170	chr9:96362048-96362049	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs117162228	chr9:96362055-96362056	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs542638914	chr9:96362072-96362073	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574281101	chr9:96362094-96362095	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550875239	chr9:96362102-96362103	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145448313	chr9:96362110-96362111	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539736364	chr9:96362114-96362115	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10992797	chr9:96362115-96362116	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs367621246	chr9:96362123-96362124	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35477424	chr9:96362136-96362137	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs533897939	chr9:96362155-96362156	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs553504295	chr9:96362171-96362172	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs571966482	chr9:96362188-96362189	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10992798	chr9:96362205-96362206	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs10739952	chr9:96362213-96362214	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542039856	chr9:96362230-96362231	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10821171	chr9:96362235-96362236	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs575655149	chr9:96362238-96362239	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs10821172	chr9:96362251-96362252	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs561514589	chr9:96362265-96362266	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs377028922	chr9:96362269-96362270	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182392725	chr9:96362326-96362327	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537536127	chr9:96362413-96362414	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529188798	chr9:96362450-96362451	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs10821173	chr9:96362455-96362456	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs374900026	chr9:96362484-96362485	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs149179468	chr9:96362498-96362499	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs71496444	chr9:96362522-96362523	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs147941136	chr9:96362532-96362533	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1092 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96341800-96362200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr9:96345000-96362600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr9:96349000-96365800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:96352400-96366000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:96352400-96369200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:96352400-96384600	Weak transcription	NHLF	lung
7	chr9:96352600-96362400	Weak transcription	Fetal Lung	lung
8	chr9:96355000-96361800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:96355200-96362600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:96355200-96362800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:96355200-96362800	Weak transcription	Brain Angular Gyrus	brain
12	chr9:96356400-96364000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr9:96356600-96365600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:96356800-96362600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr9:96357000-96361600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:96357000-96362200	Weak transcription	Small Intestine	intestine
17	chr9:96357000-96362400	Weak transcription	HSMM	muscle
18	chr9:96357000-96362600	Weak transcription	A549	lung
19	chr9:96357000-96367000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr9:96357200-96361800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr9:96357200-96361800	Weak transcription	K562	blood
22	chr9:96357200-96362400	Weak transcription	Hela-S3	cervix
23	chr9:96357200-96362800	Weak transcription	HMEC	breast
24	chr9:96357400-96362400	Weak transcription	NHEK	skin
25	chr9:96357600-96364200	Enhancers	Pancreas	Pancrea
26	chr9:96357600-96364600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:96357800-96362600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:96358200-96363000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:96358200-96363600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:96358400-96363000	Enhancers	Right Atrium	heart
31	chr9:96358400-96364000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr9:96358400-96365200	Enhancers	Primary B cells from peripheral blood	blood
33	chr9:96359200-96364000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr9:96359400-96362600	Enhancers	Primary T cells from cord blood	blood
35	chr9:96359600-96361600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:96359600-96361600	Enhancers	Spleen	Spleen
37	chr9:96359600-96363000	Enhancers	Ovary	ovary
38	chr9:96359600-96363200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr9:96359600-96363200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr9:96359600-96363600	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr9:96359600-96363800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr9:96359600-96363800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr9:96359600-96364200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr9:96359600-96364200	Enhancers	Lung	lung
45	chr9:96359600-96364400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr9:96359600-96364400	Enhancers	Left Ventricle	heart
47	chr9:96359800-96363200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr9:96359800-96363400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr9:96359800-96363600	Enhancers	Fetal Thymus	thymus
50	chr9:96360000-96361600	Genic enhancers	Fetal Muscle Leg	muscle

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