Variant report

Variant	nsv520911
Chromosome Location	chr9:110504358-110517794
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:32)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:110514110..110515685-chr9:110517940..110519497,2	MCF-7	breast:
2	chr9:110511283..110513758-chr9:110751617..110753251,2	MCF-7	breast:
3	chr9:110517281..110517920-chr9:110567178..110567695,2	MCF-7	breast:
4	chr9:110506325..110509127-chr9:110512210..110514909,2	MCF-7	breast:
5	chr9:110514515..110516747-chr9:111303982..111305554,2	MCF-7	breast:
6	chr9:110506724..110508935-chr9:110510279..110512239,2	K562	blood:
7	chr9:110500818..110503086-chr9:110517383..110519685,3	MCF-7	breast:
8	chr9:110503474..110505849-chr9:110510284..110512558,2	MCF-7	breast:
9	chr9:110503474..110505849-chr9:110510284..110512558,2	MCF-7	breast:
10	chr9:110251154..110252819-chr9:110502244..110504957,2	MCF-7	breast:
11	chr9:110517535..110518056-chr9:110893068..110893639,2	MCF-7	breast:
12	chr9:110517453..110520305-chr9:110540902..110543494,2	MCF-7	breast:
13	chr9:110506325..110509127-chr9:110512210..110514909,2	MCF-7	breast:
14	chr9:110453703..110455461-chr9:110505529..110507953,2	MCF-7	breast:
15	chr9:110506724..110508935-chr9:110510279..110512239,2	K562	blood:
16	chr9:110264744..110266613-chr9:110510927..110513657,2	MCF-7	breast:
17	chr9:110241813..110245896-chr9:110516233..110519941,6	MCF-7	breast:
18	chr9:110517673..110519483-chr9:110556820..110559158,2	MCF-7	breast:
19	chr9:110250411..110253754-chr9:110517545..110522378,7	MCF-7	breast:
20	chr9:110515788..110518055-chr9:110572897..110574723,2	MCF-7	breast:
21	chr9:110517240..110518079-chr9:110567079..110567605,3	MCF-7	breast:
22	chr9:110246498..110248989-chr9:110515168..110518438,3	MCF-7	breast:
23	chr3:187870942..187871803-chr9:110511912..110512583,2	Hela-S3	cervix:
24	chr9:110248851..110253829-chr9:110506998..110514501,12	MCF-7	breast:
25	chr20:52714890..52716728-chr9:110512982..110515116,2	MCF-7	breast:
26	chr9:110300257..110302612-chr9:110514562..110517473,2	MCF-7	breast:
27	chr9:110506724..110509091-chr9:110510279..110512249,3	K562	blood:
28	chr9:110512265..110514860-chr9:110532289..110535140,2	K562	blood:
29	chr9:110246450..110254025-chr9:110510483..110522079,28	MCF-7	breast:
30	chr9:110303652..110304451-chr9:110517319..110518238,3	MCF-7	breast:
31	chr9:110506724..110509091-chr9:110510279..110512249,3	K562	blood:
32	chr9:110498957..110503711-chr9:110512687..110515100,7	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAD23B-15	chr9:110504869-110505193	NONHSAT133894

No data

Variant related genes	Relation type
ENSG00000136826	chromatin interactions
ENSG00000244104	chromatin interactions
ENSG00000145012	chromatin interactions

Extended variants
information (count: 550 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs944178	chr9:110504358-110504359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72746134	chr9:110504380-110504381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541054576	chr9:110504384-110504385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2030640	chr9:110504394-110504395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs74964483	chr9:110504469-110504470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs2030641	chr9:110504472-110504473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs944177	chr9:110504480-110504481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs77288049	chr9:110504501-110504502	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10979031	chr9:110504502-110504503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs57325103	chr9:110504543-110504544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139938950	chr9:110504544-110504545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183589403	chr9:110504563-110504564	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548123109	chr9:110504564-110504565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565640647	chr9:110504578-110504579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs944176	chr9:110504663-110504664	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs944175	chr9:110504684-110504685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188528561	chr9:110504717-110504718	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79204650	chr9:110504740-110504741	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537231811	chr9:110504745-110504746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371194012	chr9:110504768-110504769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7470561	chr9:110504771-110504772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574043709	chr9:110504816-110504817	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35905303	chr9:110504821-110504822	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559330118	chr9:110504822-110504823	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577588972	chr9:110504840-110504841	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77722823	chr9:110504854-110504855	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs377298602	chr9:110504869-110504870	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs564026916	chr9:110504887-110504888	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs531578245	chr9:110504925-110504926	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs193209914	chr9:110504926-110504927	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs184751793	chr9:110504950-110504951	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs528991060	chr9:110504962-110504963	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
33	rs186548009	chr9:110504984-110504985	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
34	rs112358524	chr9:110504996-110504997	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
35	rs539416765	chr9:110505031-110505032	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
36	rs552136166	chr9:110505050-110505051	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
37	rs570353986	chr9:110505083-110505084	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
38	rs563546899	chr9:110505110-110505111	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
39	rs555682340	chr9:110505130-110505131	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
40	rs573616908	chr9:110505132-110505133	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
41	rs542657344	chr9:110505146-110505147	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
42	rs73518928	chr9:110505156-110505157	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191376903	chr9:110505191-110505192	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
44	rs116596860	chr9:110505192-110505193	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
45	rs577651368	chr9:110505201-110505202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544996078	chr9:110505241-110505242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183728218	chr9:110505293-110505294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552871746	chr9:110505343-110505344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576260995	chr9:110505403-110505404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10979032	chr9:110505424-110505425	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110496000-110510800	Weak transcription	Aorta	Aorta
2	chr9:110497200-110506600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr9:110497200-110506800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr9:110497400-110510800	Weak transcription	Psoas Muscle	Psoas
5	chr9:110499400-110504800	Enhancers	Fetal Muscle Trunk	muscle
6	chr9:110499800-110505200	Enhancers	Adipose Nuclei	Adipose
7	chr9:110500000-110505000	Weak transcription	Spleen	Spleen
8	chr9:110500800-110511600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:110501000-110507000	Weak transcription	GM12878-XiMat	blood
10	chr9:110501200-110510600	Weak transcription	Brain Anterior Caudate	brain
11	chr9:110502600-110504800	Weak transcription	Fetal Brain Male	brain
12	chr9:110502600-110511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:110503000-110504800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:110503000-110504800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:110503000-110504800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:110503000-110504800	Weak transcription	Esophagus	oesophagus
17	chr9:110503000-110510400	Weak transcription	Right Ventricle	heart
18	chr9:110503000-110510600	Weak transcription	Left Ventricle	heart
19	chr9:110503000-110510800	Weak transcription	Placenta	Placenta
20	chr9:110503000-110511400	Weak transcription	NHLF	lung
21	chr9:110503600-110505200	Enhancers	Fetal Lung	lung
22	chr9:110503800-110504800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:110504000-110505600	Enhancers	Ovary	ovary
24	chr9:110504200-110504400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:110504200-110504400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr9:110504200-110504600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:110504200-110504600	Weak transcription	Fetal Muscle Leg	muscle
28	chr9:110504200-110504800	Enhancers	Right Atrium	heart
29	chr9:110504200-110505200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:110504200-110505200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:110504200-110505200	Enhancers	NHEK	skin
32	chr9:110504400-110505000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:110504400-110505400	Enhancers	Fetal Stomach	stomach
34	chr9:110504400-110512000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr9:110504600-110505200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:110504600-110505200	Enhancers	Fetal Muscle Leg	muscle
37	chr9:110504800-110505200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:110504800-110505200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:110504800-110505200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:110504800-110505200	Enhancers	Esophagus	oesophagus
41	chr9:110504800-110505200	Enhancers	Fetal Brain Male	brain
42	chr9:110504800-110505200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr9:110504800-110505400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:110505000-110505200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:110505000-110505200	Enhancers	Spleen	Spleen
46	chr9:110505200-110505400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:110505200-110505800	Enhancers	Fetal Muscle Trunk	muscle
48	chr9:110505200-110509200	Weak transcription	Spleen	Spleen
49	chr9:110505200-110510600	Weak transcription	Adipose Nuclei	Adipose
50	chr9:110505200-110510800	Weak transcription	Fetal Muscle Leg	muscle

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